You are on page 1of 18

CURRENT CONCEPTS

Radial Longitudinal Deficiency: Recent


Developments, Controversies, and an
Evidence-Based Guide to Treatment
David L. Colen, MD,* Ines C. Lin, MD,*† L. Scott Levin, MD,‡
Benjamin Chang, MD*†
CME INFORMATION AND DISCLOSURES
The Journal of Hand Surgery will contain at least 2 clinically relevant articles selected Technical Requirements for the Online Examination can be found at http://jhandsurg.
by the editor to be offered for CME in each issue. For CME credit, the participant must org/cme/home.
read the articles in print or online and correctly answer all related questions through
an online examination. The questions on the test are designed to make the reader Privacy Policy can be found at http://www.assh.org/pages/ASSHPrivacyPolicy.aspx.
think and will occasionally require the reader to go back and scrutinize the article for
ASSH Disclosure Policy: As a provider accredited by the ACCME, the ASSH must ensure
details.
balance, independence, objectivity, and scientific rigor in all its activities.
The JHS CME Activity fee of $15.00 includes the exam questions/answers only and does not
Disclosures for this Article
include access to the JHS articles referenced.
Editors
Statement of Need: This CME activity was developed by the JHS editors as a convenient David T. Netscher, MD, has no relevant conflicts of interest to disclose.
education tool to help increase or affirm reader’s knowledge. The overall goal of the activity
is for participants to evaluate the appropriateness of clinical data and apply it to their Authors
practice and the provision of patient care. All authors of this journal-based CME activity have no relevant conflicts of interest to
disclose. In the printed or PDF version of this article, author affiliations can be found at the
Accreditation: The ASSH is accredited by the Accreditation Council for Continuing Medical bottom of the first page.
Education to provide continuing medical education for physicians.
Planners
AMA PRA Credit Designation: The American Society for Surgery of the Hand designates David T. Netscher, MD, has no relevant conflicts of interest to disclose. The editorial and
this Journal-Based CME activity for a maximum of 1.00 AMA PRA Category 1 Credits. education staff involved with this journal-based CME activity has no relevant conflicts of
Physicians should claim only the credit commensurate with the extent of their participation interest to disclose.
in the activity.
Learning Objectives
ASSH Disclaimer: The material presented in this CME activity is made available by Upon completion of this CME activity, the learner should achieve an understanding of:
the ASSH for educational purposes only. This material is not intended to represent the  Embryology of upper limb development in relation to radial longitudinal
only methods or the best procedures appropriate for the medical situation(s) dis- deficiency and thumb hypoplasia
cussed, but rather it is intended to present an approach, view, statement, or opinion  Relative benefits and risks of wrist centralization on the ulna
of the authors that may be helpful, or of interest, to other practitioners. Examinees  Recent alternatives to wrist centralization
agree to participate in this medical education activity, sponsored by the ASSH, with  Classification and surgical indications for thumb hypoplasia
full knowledge and awareness that they waive any claim they may have against the  Reconstructive options and outcomes for thumb hypoplasia
ASSH for reliance on any information presented. The approval of the US Food and Drug
Administration is required for procedures and drugs that are considered experimental. Deadline: Each examination purchased in 2017 must be completed by January 31, 2018, to
Instrumentation systems discussed or reviewed during this educational activity may be eligible for CME. A certificate will be issued upon completion of the activity. Estimated
not yet have received FDA approval. time to complete each JHS CME activity is up to one hour.

Provider Information can be found at http://www.assh.org/Pages/ContactUs.aspx. Copyright ª 2017 by the American Society for Surgery of the Hand. All rights reserved.

Radial longitudinal deficiency (RLD) is the most common congenital longitudinal deficiency
at birth and represents a wide spectrum of upper extremity anomalies, from mild thumb
hypoplasia to absent radius. Radial dysplasia may be isolated or associated with an array of
systemic anomalies that should be familiar to pediatric hand surgeons. The management
From the *Division of Plastic and Reconstructive Surgery, the ‡Department of Orthopaedic Corresponding author: Benjamin Chang, MD, Division of Plastic and Reconstructive
Surgery, Hospital of the University of Pennsylvania; and the †Division of Plastic Surgery, Surgery, Hospital of the University of Pennsylvania, Perelman Center for Advanced Medicine,
Department of Surgery, Children’s Hospital of Philadelphia, Philadelphia, PA. South Pavilion - 14th Floor, 3400 Civic Center Blvd., Philadelphia, PA, 19104; e-mail:
Benjamin.Chang@uphs.upenn.edu.
Received for publication October 14, 2016; accepted in revised form April 20, 2017.
0363-5023/17/4207-0008$36.00/0
No benefits in any form have been received or will be received related directly or indirectly http://dx.doi.org/10.1016/j.jhsa.2017.04.012
to the subject of this article.

546 r  2017 ASSH r Published by Elsevier, Inc. All rights reserved.


RLD DEVELOPMENTS AND CONTROVERSIES 547

of RLD has evolved greatly since its inception in the late 19th century, largely due to decades
of innovation that followed the thalidomide catastrophe of the 1960s. Yet controversy still
exists regarding many aspects of RLD. Traditional treatments of radial dysplasia (ie,
centralization) are unfortunately wrought with poor outcomes and high rates of recurrence,
leading some authors to recommend alternative techniques for this condition. Reconstruction
of the hypoplastic thumb, although less controversial, is just starting to see long-term out-
comes. This article reviews the etiology, classification, and treatment options for RLD,
highlighting recent developments and outcomes. (J Hand Surg Am. 2017;42(7):546e563.
Copyright  2017 by the American Society for Surgery of the Hand. All rights reserved.)
Key words Radial dysplasia, radial longitudinal deficiency, centralization, thumb hypoplasia,
pollicization.

fibroblast growth factors (FGF) secreted in the apical

R
ADIAL LONGITUDINAL DEFICIENCY (RLD), or radial
dysplasia, is the most common congenital ectodermal ridge in the distal limb bud. Fibroblast
longitudinal deficiency of the upper extremity growth factors, primarily FGF8, stimulate cell pro-
(1 in 5,000 live births)1 and is characterized by a spec- liferation and survival for nearby mesodermal cells,
trum of dysplastic development along the radial column inducing and maintaining outgrowth of the limb bud.
and includes thumb hypoplasia. The thalidomide- The apical ectodermal ridge is also maintained, not
induced epidemic of phocomelia of the 1960s turned only by FGF signaling via FGFR1&2, but also by
limb hypoplasia into a widespread congenital anomaly Wnt/beta-catenin, bone morphogenic protein (BMP)/
and spurred advances in the treatment of RLD. The BMPR1a, retinoic acid, and Sonic hedgehog (Shh).8
decades that followed saw important innovations in the The anterior-posterior axis differentiates due to Shh
surgical treatment of RLD. Two landmark articles were expression in the zone of polarizing activity (ZPA), a
published in the 1970s that established principles of region of the distal posterior (ulnar) limb mesenchyme.
surgical management. Dieter Buck-Gramcko2 published The ZPA is established owing to FGF signaling via
a series of 100 index pollicizations for congenital thumb FGFR2. The Shh produced by the ZPA induces
hypoplasia in 1971 based on the procedure conceived development of posterior (ulnar) structures via Gli-3
by Littler3 and Riordan.4 In 1972, Lamb5 published and is thought to induce patterning from an ulnar to a
his experience in 41 children and stressed the importance radial direction due to an Shh gradient, with develop-
of early orthosis fabrication to stretch the fibrotic ment of the anteriormost digit (ie, thumb) occurring
radial anlage and centralizing the carpus over the ulna independent of Shh signaling8 (Fig. 1). Recently, Iro-
with Kirschner wire fixation. Important innovations quois homeodomain transcription factors 3 and 5 (IRX
and follow-up studies over the past few years have 3/5) have also been implicated as the driver of anterior
both clarified and called into question several of these limb development. A double knockout murine model
principles. In this article, we review current literature produced a phenotype of RLD and current thought is
and updated recommendations for the treatment of RLD. that Shh has an inhibitory role on IRX 3/59 (Fig. 2).
Alternatively, aberrant expression of hairy2, a limb
ETIOLOGY molecular clock gene that is regulated both instruc-
Embryological development of the upper extremity tively by FGF and permissively by Shh, may be
occurs along 3 axes of the limb bud: proximal/distal involved in deficient radial ray development.8
(longitudinal), anterior/posterior (radial/ulnar), and
dorsal/ventral. According to the Oberg-Manske-Tonkin
classification, RLD is a malformation caused by RADIAL LONGITUDINAL DEFICIENCY
disrupted development along the radial/ulnar axis.6,7 Classification and diagnosis
The developmental biochemical pathways of these 3 Although not commonly screened for, it is possible to
axes are complex and intricately interrelated,8 and the diagnose RLD prenatally with obstetric ultrasound
more severe forms of RLD have a proximal/distal (sensitivity, 75%; specificity, 100%).10 Radial longi-
component of dysplasia as well. tudinal deficiency commonly occurs in conjunction
Growth and patterning along the longitudinal with other congenital anomalies. One-third of patients
axis of the upper extremity is primarily the result of have a named syndrome (Table 1), and 67% of RLD

J Hand Surg Am. r Vol. 42, July 2017


548 RLD DEVELOPMENTS AND CONTROVERSIES

FIGURE 1: Development of the upper limb bud. A The ZPA-Shh is established in early limb development owing to mutually antag-
onistic Gli3 (anterior) and Hand2 (posterior) in the lateral plate mesoderm (LPM). Retinoic acid (RA), apical ectodermal ridge (AER)
FGFs, Hand2, and 5’Hox genes cooperatively facilitate shh induction in the ZPA, which in turn leads to FGF4 expression in the
posterior AER. B Longitudinal growth of the limb bud is primarily due to FGF expression at the AER, which through a feedback loop is
mediated via Grem via BMP. C Dorsal-ventral patterning of the limb is due to opposing Wnt7a and BMP signals. Wnt7a induces Lmx1b
expression exclusively in dorsal mesenchyme whereas BMP signaling in the ventral ectoderm causes En-1 expression leading to DV
limb patterning. Wnt7a is also required for ZPA-Shh signaling and BMP expression for the establishment of the AER.8 All limbs are
represented anterior on top and proximal to the left. (Reproduced with permission from “Sheeba CJ, Andrade RP, Palmeirim I. Getting
a handle on embryo limb development: molecular interactions driving limb outgrowth and patterning. In: Seminars in Cell & Devel-
opmental Biology. 2016;49:92e101. Academic Press.”)

patients have an associated medical or musculoskel- expanded to include proximal longitudinal dysplasia as
etal anomaly. This association grows stronger with well15 (Table 2). The most subtle cases have simple
more severe cases of RLD, reaching 100% in type 5 hypoplasia of the thumb, radial carpus, or thenar mus-
RLD.11 The limb discrepancy may be the only out- cles. With more severe dysplasia, the underdeveloped
ward manifestation of these multiorgan syndromes; (or absent) radius may take the form of a fibrous anlage
thus, the hand surgeon must be aware of the appro- that does not support the radial carpus, which, in
priate work-up for RLD patients12 (Table 1). conjunction with aberrant radial musculature, results in
Skeletal anomalies along the radial column vary from a radially deviated and volarly subluxated hand (Fig. 3).
isolated thumb hypoplasia to complete absence of the
radius, carpus, and radial digits (Fig. 3). The current Treatment and outcomes
classification scheme, originally developed by Bayne The goals of treatment of RLD are to straighten radial
and Klug13 and updated by James et al,14 is based on the bowing of the forearm, correct the radial and volar
severity of the radiographic phenotype and has been subluxation of the carpus, and optimize limb length in

J Hand Surg Am. r Vol. 42, July 2017


RLD DEVELOPMENTS AND CONTROVERSIES 549

TABLE 1. Syndromes Associated With RLD


Systemic Recommended
Syndromes Comorbidities Tests

Holt-Oram Congenital Complete


Fanconi heart anomalies blood count
anemia Blood dyscrasias Echocardiogram
TAR Renal dysfunction Abdominal
VACTERL Gastrointestinal ultrasound
association dysfunction Scoliosis
radiograph
Chromosome
breakage test

TAR, thrombocytopenia-absent radius syndrome; VACTERL, verte-


bral abnormalities, anal atresia, cardiac abnormalities, trache-
oesophageal fistula and/or esophageal atresia, renal agenesis and
dysplasia, and limb defects.

Traditional treatment of RLD has been focused on


FIGURE 2: Development of the anterior upper extremity. IRX 3/
5 promotes development of anterior limb and is inhibited by Shh.
repositioning the carpus onto the ulna. Centralization
(Reproduced with permission from Li D, Sakuma R, Vakili NA, was first described in 1893,19 but substantial refinements
et al. Formation of proximal and anterior limb skeleton requires followed the thalidomide epidemic, including release of
early function of Irx3 and Irx5 and is negatively regulated by Shh the ligamentous anlage, advancement of ulnar muscles,
signaling. Developmental cell. 2014;29(2):233e240.) and local tissue rearrangement during carpal reposi-
tioning. The introduction of soft tissue distraction by
Kessler in 198920 further simplified these issues, facili-
order to provide the best functional and aesthetic upper tating carpal repositioning and solving the skin deficit at
extremity possible. This is followed by reconstruction the time of surgery (Fig. 4).
of the hypoplastic thumb as needed. Repositioning the Centralization remains the most common and
hand relative to the forearm also improves the excur- trusted procedure for the treatment of significant RLD;
sion of digital flexor and extensor tendons,16 however, recurrence of deformity is expected21,22
improving digital range of motion. How to achieve even with the use of soft tissue distraction22 (Fig. 5).
the aforementioned goals depends on the severity of Manske et al23 recently found no improvement in
the anomaly and the degree of functional impairment. reducing deformity relapse in centralization even with
Patients with subtle radial bowing (< 20 ) can be soft tissue distraction. No difference was appreciated
treated nonsurgically. Historically, the impetus to between patients who underwent centralization alone
operate on more severe RLD was based on the gradual or distraction prior to centralization and both groups
loss of prehensile function in these patients over had significant recurrence of their radial angulation
time,17 but a recent large series comparing surgical (36%e47%)23 (Table 3).
with nonsurgical treatment for types 3 and 4 RLD Buck-Gramcko16 also introduced the radialization
proved that surgery resulted in substantially better procedure of transposing the ulna under the radial side
outcomes.18 Kotwal et al18 analyzed radiographic and of the carpus and transferring radial wrist musculature
functional outcomes in 446 patients with type 3 or 4 to the ulnar wrist. This levers the wrist and hand on the
RLD over 20 years. The authors compared patients ulna fulcrum, countering radial angulation. However,
who had conservative treatment alone, including pas- Dana et al24 recently described that 7 of 8 arms with
sive stretching and splinting (n ¼ 137), with those who type 3 or 4 RLD had recurrence of the radial deformity
had passive stretching followed by surgical correction and there was no difference between preoperative and
(n ¼ 309), either by centralization (n ¼ 205) or postoperative HFA (Table 3).
radialization (n ¼ 107). With a mean follow-up of 10.1 Recurrence of angulation after ulnocarpal trans-
and 11.1 years in the nonsurgical and surgical groups, position may be significant, and for patients who desire
respectively, the authors showed that surgical correc- a straight wrist after a failed centralization procedure,
tion improved wrist alignment (hand-forearm angle fusion of the ulnocarpal joint is a salvage option.
[HFA], 12 vs 85 ) as well as digital range of motion in Goldfarb and colleagues25 recently published their
the long finger (157 vs 86 )18 (Table 2). experience with 12 patients who underwent ulnocarpal

J Hand Surg Am. r Vol. 42, July 2017


550 RLD DEVELOPMENTS AND CONTROVERSIES

FIGURE 3: Radial dysplasia in a 3-year-old girl with a history of VACTERL (vertebral abnormalities, anal atresia, cardiac abnormalities,
tracheoesophageal fistula and/or esophageal atresia, renal agenesis and dysplasia, and limb defects) association and bilateral type 4 RLD.
Multiple systemic comorbidities including tracheoesophageal fistula and congenital cardiac defects precluded earlier intervention on radial
angulation of her wrists. A, B Right arm Type 4 RLD with severe radial angulation deformity, contracted radial soft tissue, and absence of the
radial two digits. C, D Left arm type 4 RLD with severe radial angulation and Blauth type V thumb hypoplasia.

epiphyseal arthrodesis after recurrence of wrist angu- with improved angulation, prehension decreased. To-
lation. Eleven wrists were successfully fused with 1 tal active range of motion in the digits both decreased
operation, and 1 nonunion was successfully managed from 140 to 105 in the middle finger, from 139 to
with revision arthrodesis. The authors achieved a mean 100 in the ring finger, and from 180 to 143 before
radial angulation of 20 after arthrodesis (range, and after arthrodesis, respectively.
0 e35 ), with a mean improvement of 42 . The mean Limb length is another important consideration. At
postoperative Disabilities of the Arm, Shoulder, and baseline, the ulna of a limb with RLD will only reach
Hand score was 24.5 (12.3; range, 6.8e36.4) and the 60% to 65% of normal length.26,27 Centralization
mean visual analog score was 8 for function (range, worsens this discrepancy, because ulnae only grow to
4e10) and 7 for appearance (range, 5e10). However, be 48% to 58% of normal length (P > .01)25 (Table 3).

J Hand Surg Am. r Vol. 42, July 2017


TABLE 2. Modified Classification of RLD7,10,13,14,15
Relative
Type Thumb Carpus Distal Radius Proximal Radius Humerus10 Incidence (n ¼ 245)7

N Hypoplastic or absent Normal Normal Normal Normal 16.3%


0 Hypoplastic or absent Absence, hypoplasia, Normal Normal, radioulnar Normal

RLD DEVELOPMENTS AND CONTROVERSIES


J Hand Surg Am.

or coalition synostosis, congenital


radial head dislocation
1 Hypoplastic or absent Absence, hypoplasia, > 2 mm shorter Normal, radioulnar Normal 12.2%
or coalition than ulna synostosis, congenital
radial head dislocation
2 Hypoplastic or absent Absence, hypoplasia, Hypoplasia Hypoplasia Normal 6.9%
r
Vol. 42, July 2017

or coalition
3 Hypoplastic or absent Absence, hypoplasia, Physis absent Variable hypoplasia Normal 7.3%
or coalition
4 Hypoplastic or absent Absence, hypoplasia, Absent Absent Normal 52.2%
or coalition
5 Hypoplastic or absent Absence, hypoplasia, Absent Absent Proximal upper extremity 4.9%
or coalition hypoplasia including
abnormal glenoid and
proximal humerus
Distal humerus articulates
with ulna.

551
552 RLD DEVELOPMENTS AND CONTROVERSIES

FIGURE 4: Staged centralization of type 4 RLD. The same patient as in Figure 3 undergoing treatment to correct radial angulation of the left
hand. This patient failed initial attempts at serial orthosis fabrication to stretch tight radial fibrous tissue. A At the initial operation, this patient
underwent release of the radial anlage with care taken to protect the median nerve (blue arrow) or radial artery (green arrow), which may be
absent in RLD. B At the same time as radial release, a modified Ilizarov distractor was placed to distract radial soft tissues. C Secondary
operation included z-plasty along radial-sided skin to lengthen the soft tissue envelope along with centralization via an ulnar incision. D An
ellipse of skin of excess ulnar skin was excised, and E complete ulnocarpal capsulotomy was done in order to transpose the carpus onto the
ulna while protecting the ulnar neurovascular bundle (blue arrow) and extensor carpi ulnaris (green arrow). F A pin placed down the long
axis of the ulna and G the third metacarpal is used to keep the centralized carpus internally fixated for 2 to 3 months.

J Hand Surg Am. r Vol. 42, July 2017


RLD DEVELOPMENTS AND CONTROVERSIES 553

include possibly a more robust stock of growing bone


compared with the second MTP and avoiding the
cosmetic implications of sacrificing the second toe.
Longer follow-up and greater volume of cases are
required to confirm these findings.
Noting the unsatisfying results of soft tissue
distraction followed by centralization, Oishi and co-
authors30 recently published their series of 18 wrists in
16 patients in which they used a bilobed flap (Fig. 7)
along with soft tissue release and ulnar osteotomy. The
authors report a mean clinical resting angle of 64 , a 24
improvement (mean follow-up, 9.2 years), and ulnar
length that is 62% of the contralateral side.31 Although
there was statistically significant improvement in the
radial angulation, the radial deviation of the wrist was
greater than other methods (HFA, 64 vs 11 e63 )
(Table 2). The authors recommend this procedure be
done in advance of a second MTP transfer procedure,
but find that patients commonly are satisfied with their
function and opt not to pursue further surgery.

THUMB HYPOPLASIA
Thumb opposition is a crucial component of a fully
functional hand and is required for prehension, fine
FIGURE 5: Outcome after centralization with soft tissue pinch, and power grip. Hypoplasia of the thumb
distraction. The same patient as in Figures 3 and 4 at 1-year occurs along a spectrum that ranges from minor
follow-up demonstrates recurrence of radial angulation with a hypoplasia to its complete absence and includes a
hand-forearm angle of 60 . variable range of hypoplastic skeletal, ligamentous,
and musculotendinous components.
This effect is likely due to trauma to the ulnar physis
during centralization. Classification and diagnosis
Vilkki28 described a vascularized second meta- Previously considered a separate clinical entity, thumb
tarsophalangeal (MTP) joint as a radially oriented strut hypoplasia is now categorized as a component of the
off of the radial platform of the ulna as an alternative to overarching condition, RLD14 (Table 1). Subtypes of
centralization and its trauma to the ulnar physis (Fig. 6). thumb hypoplasia are commonly classified based on
This construct supports the radial carpus and provides radiographic findings according to Manske’s modifica-
growing bone stock to minimize recurrence and tion32 of Blauth’s original anatomical descriptions33
maximize limb length. Long-term follow-up (mean, 11 (Table 4). This system unfortunately ignores the impor-
years) of 19 wrists in 18 patients who underwent soft tant contribution (or lack thereof) made by the extrinsic
tissue distraction and second MTP transfer for types 3 muscles of the thumb. Thus, Tonkin34 recently put
and 4 RLD showed an HFA of 28 and significantly forth an amended classification scheme that reorganizes
improved ulnar growth compared with centralization hypoplastic thumbs based on carpometacarpal laxity,
(67% of contralateral side)28 (Table 3). metacarpal morphology, and quality of extrinsic thumb
Similarly, Yang et al29 recently published 4 cases musculature to better inform the surgeon on reconstruc-
of soft tissue distraction followed by a vascularized tive requirements and compare outcomes (Table 5).
fibular head transfer. This flap, based on the inferior
lateral genicular artery, is used in the same manner Treatment and outcomes
described by Vilkki28 with similar results. The au- The surgical treatment to restore opposition depends
thors report preserved ulnar growth (67.9% of on the severity of thumb hypoplasia, particularly joint
contralateral limb) and promising improvement in stability and extrinsic and intrinsic muscle function.
radial angulation (11 ), although their patients had Traditionally, the mildest form (Blauth type I) does
less severe RLD (all were type 3) and follow-up only not require surgery whereas moderate forms (types II
reached a mean of 42 months. Benefits of this method and IIIA) require procedures to improve function of

J Hand Surg Am. r Vol. 42, July 2017


554
TABLE 3. Comparison of Surgical Methods for Types 3 and 4 RLD17,20,22,23,25,27e30
Preoperative
Preoperative Ulnar Ulnar Ulnar
Ulnar Length Length Length
Preoperative Postoperative HFA Length (% (% (%
Study Procedure Follow-Up HFA HFA Final HFA Recurrence (% Normal) Normal) Contralateral) Contralateral)

Kotwal et al
(2012)18
No surgery 10.1 y 66 ( 21 ) 85 ( 23 )* -
(n ¼ 137) (5e18.5 y)
Surgery (n ¼ 309); 11.1 y 63 ( 19 ) 12 ( 16 )† -
centralization (5.5e19.2 y)
with carpal
notch (n ¼ 202),

RLD DEVELOPMENTS AND CONTROVERSIES


J Hand Surg Am.

radialization
(n ¼ 107)
Sestero et al
(2006)26
No surgery 5.44 y 50 - 62 - 64%‡
(n ¼ 9)
r
Vol. 42, July 2017

Centralization 5.31 y 49 3 38 35.4 58%


(nonnotched)
(n ¼ 7)
Centralization 7.31 y 46 0 15 14.7 48%
(notched)
(n ¼ 26)
Damore et al
(2000)21
Centralization 6.5 y 83 25 63 38
(n ¼ 19) (1.5e22.2 y) (55 e110 ) (5 e60 ) (20 e120 )
Dana et al
(2012)24
Soft tissue 2.6 y 61 12 44 32
distraction þ (26 e91 ) (14 e40 ) (20 e69 )
Radialization
(n ¼ 8)

(Continued)
TABLE 3. Comparison of Surgical Methods for Types 3 and 4 RLD17,20,22,23,25,27e30 (Continued)
Preoperative
Preoperative Ulnar Ulnar Ulnar
Ulnar Length Length Length
Preoperative Postoperative HFA Length (% (% (%
Study Procedure Follow-Up HFA HFA Final HFA Recurrence (% Normal) Normal) Contralateral) Contralateral)

Manske et al
(2014)23
Centralization 10.0 y 53 13 27 14
alone (n ¼ 13) ( 2.7 y) ( 31 ) ( 11 ) ( 24 )
Soft tissue 6.0 y 53  21 36 15
distraction þ ( 2.2 y) ( 26 ) ( 15 ) ( 20 )§
Centralization
(n ¼ 13)

RLD DEVELOPMENTS AND CONTROVERSIES


J Hand Surg Am.

Vuillermin
(2015, 2016)30,31
Bilobed flap 9.2 y 88 64 e24 63.90% 62%
( ulnar (3e16.3 y) (45 e120 ) (35 e88 )
osteotomy)
(n ¼ 18)
r
Vol. 42, July 2017

Vilkki
(2008)28
Soft tissue 11 y 28 67%
distraction þ (4e19.5 y) (51%e78%)
second MTP
transfer
(n ¼ 19)
Yang et al
(2015)29
Proximal 42 m 39 11 66.20% 67.90%
fibular (24e65 m) (22 e57 ) (5 e20 )
physeal
transfer
(n ¼ 4)

*P ¼ .081.
†P < .001.
‡Significant difference between nonsurgical group and centralization (both notched and nonnotched), P < .01.
§No significant difference between centralization alone or centralization with soft tissue distraction, P ¼ .31.

555
556 RLD DEVELOPMENTS AND CONTROVERSIES

FIGURE 6: An RLD reconstruction with soft tissue distraction followed by microvascular transfer of the second MTP joint. A, B Type 5
RLD after soft tissue distraction using an external fixator. C Exposure of recipient vessels on the radial aspect of distal forearm. In this
case, a radial artery (blue arrow) was present and was used to anastomose the second MTP joint flap. D, E Dissection of the left second
MTP joint along with its pedicle, first dorsal metatarsal artery and vein. F Patient after inset of the second MTP flap. (Images courtesy of
Dr. L. Scott Levin and Dr. Scott Kozin, Shriners Hospitals for Children, Philadelphia, PA)

the existing thumb: opponensplasty, MTP stabiliza- however, 2 recent studies have shown good results
tion, and deepening of the first web space.a,b Two with FDS transfers. de Kraker and authors35 report
primary methods of opposition transfer are used for that 0 out of 16 type II thumbs had MCP instability
types A II and IIIA hypoplastic thumbs. The Huber and they were significantly stronger than nonoperated
transfer utilizes the abductor digiti minimi to sup- type II thumbs (72% of normal opposition strength
plement thumb opposition, whereas the flexor dig- compared with 33%, respectively; P ¼ .01). Vuiller-
itorum superficialis (FDS) transfer uses the superficial min et al36 also showed good results, with no differ-
flexor tendon of the ring or middle finger, which ence between using the flexor carpi ulnaris or the
provides enough tendon length to use a slip of tendon transverse carpal ligament as pulleys for the FDS
for reconstruction of the ulnar collateral ligament of tendon. Both studies report adequate oppositional
the metacarpophalangeal (MCP) joint.35e37 range of motion (mean Kapandji scores, 6.8e8.0).
Unfortunately, no objective data exist regarding the The most severe forms of thumb hypoplasia (types
outcomes of Huber transfers for thumb hypoplasia; IIIB, IV, and V) require amputation of the existing

J Hand Surg Am. r Vol. 42, July 2017


RLD DEVELOPMENTS AND CONTROVERSIES 557

MCP joint stabilization with opponensplasty;

Amputation of hypoplastic thumb followed


by pollicization of the radialmost digit
No surgical treatment necessary

deepening of first web space


Treatment

Deficient CMC joint with absence of trapezium, aplastic proximal first


metacarpal head. Absence of active motion at MCP or IP joint
FIGURE 7: Bilobed flap designed over the dorsal wrist. After
Minimal hypoplasia with full complement of neurovascular and

No muscular or skeletal attachments between thumb and hand;


persistent neurovascular structures within hypoplastic thumb
determining the point of maximal skin deficiency on the radial side
of the ulnocarpal articulation, a longitudinally oriented flap over the collateral ligament of MCP joint. Thenar hypoplasia.
dorsum of the hand is designed along with a transversely oriented
All bones present, but hypoplastic. Instability of ulnar

flap over the ulnar aspect of the ulnocarpal joint with a wide base left
musculoskeletal elements that are small in size

between them. The flaps are raised off of deep fascia, making sure to
keep the sensory branch of the ulnar nerve down. After all fascial
Description

bands are released, radial wrist flexors are transferred. In case of


Poor active motion at MCP and IP joints

ulnar angulation greater than 30 , Vuillermin et al30 recommend


performing a middiaphyseal ulnar osteotomy followed by Kirschner
wire placement under direct visualization. Importantly, finger
Blauth classification of Thumb Hypoplasia33

CMC, carpometacarpal; IP, interphalangeal; MCP, metacarpophalangeal.


flexors and neurovascular structures are preserved and trauma to the
ulnar physis and ulnocarpal joint are avoided.30
CMC joint unstable

thumb and reconstruction, most commonly by index


Absent thumb
Pouce flottant

pollicization (Fig. 8). With more severe RLD,


intrinsic and extrinsic components of the index may
too be hypoplastic or stiff and a fixed flexion
contracture of the index proximal interphalangeal
joint may be present—a finding many consider a
relative contraindication to pollicization. However,
Al Qattan38 recently reported a small series of such
patients in which pollicizations were followed by
arthrodesis of the new thumb MCP joint (former in-
dex proximal interphalangeal joint) using K wires
with the joint held in 10 to 30 of flexion. He reports
TABLE 4.

that all patients (n ¼ 5) used their new thumbs in daily


Type

IIIA

IIIB

activities and were satisfied with their result. Tech-


IV

V
II
I

nical details of index pollicization vary among

J Hand Surg Am. r Vol. 42, July 2017


558
TABLE 5. Proposed Classification of Thumb Hypoplasia by Tonkin34
Type Description Treatment

I Small thumb with some hypoplasia of the thenar musculature; No surgical treatment necessary
mild extrinsic anomalies may be present
II Thumb hypoplasia more severe than type I. Opponensplasty, reconstruction of deficient ligamentous
CMC joint is present. Intrinsic and extrinsic anomalies are more and extrinsic structures as indicated (see later)
significant; underdeveloped first web space; there is MCP joint instability.

RLD DEVELOPMENTS AND CONTROVERSIES


J Hand Surg Am.

IIA (mild) MCP joint instability is uniaxial. Mild extrinsic anomalies MCP joint stabilization (UCL reconstruction)
with opponensplasty; deepening of first web space
IIB (moderate) More severe intrinsic hypoplasia and web insufficiency than IIA; As earlier, along with reconstruction of extrinsic anomalies
multiplanar MCP joint instability. CMC joint is adequately stable and mobile.
Radiographic evidence of proximal flare at the first metacarpal base.
IIC (severe) Severe global MCP joint instability, gross extrinsic hypoplasia, As earlier along with chondrodesis or fusion of
r
Vol. 42, July 2017

and inadequate CMC joint (unstable or immobile). MCP joint and reconstruction of CMC joint.
Radiographically absent flare of proximal first metacarpal base For most severe IIC patients, amputation
and pollicization can be considered
III Increasing hypoplasia of all structures Amputation of hypoplastic thumb followed
CMC joint absent. by pollicization of the radialmost digit
IIIa Absence of the proximal metacarpal
IIIB Only a distal metacarpal remnant remains
IV Pouce flottant
No muscular or skeletal attachments between thumb and hand;
persistent neurovascular structures within hypoplastic thumb
V Absent thumb

CMC, carpometacarpal; UC, ulnar collateral ligament.


RLD DEVELOPMENTS AND CONTROVERSIES 559

FIGURE 8: Thumb hypoplasia subtypes requiring index finger pollicization. A, B Type 3A, with deficient carpometacarpal seen on
radiograph. C Type 4 (pouce flotant). D Type 5, absent thumb.

authors, in particular regarding the reconfiguration of are diminished in pollicized fingers, ranging from
the extrinsic musculature of the index and design of 40% to 77% of normal hands,45e47 with worse
skin incision39e42 (Fig. 9).cee impairment in patients with more severe RLD.46
Function of the new thumb after pollicization Strength also falls short relative to a normal thumb:
(Fig. 10) is invariably weaker and stiffer than the grip, lateral (key) pinch, and tripod pinch in hands
thumb of a nonoperated hand.33,43,44 The degree of after pollicization without radial dysplasia range from
function greatly depends on the original state of 44% to 60% of patients’ nonoperated contralateral
the pollicized digit prior to surgery with better out- hands and 25% to 38% of hands of unaffected control
comes in hands with preoperatively supple index patients44,46,48 (Video 1; available on the Journal’s
fingers.1,42 Both active and passive range of motion Web site at www.jhandsurg.org).

J Hand Surg Am. r Vol. 42, July 2017


560 RLD DEVELOPMENTS AND CONTROVERSIES

FIGURE 9: Index pollicization. A, B Skin incisions and CeE skin closure of pollicization to treat type 4 thumb hypoplasia.

de Kraker et al46 showed that the severity of radial severe radial dysplasia (types 3 and 4) were signifi-
dysplasia correlates with the quality of the post- cantly more stiff in MCP flexion and thumb opposi-
pollicization functional deficit. Compared with hands tion and significantly weaker in grip, pinch, key
with mild forms of RLD (Types 0e2), patients with pinch, and tripod pinch.46 Dexterity of the new thumb

J Hand Surg Am. r Vol. 42, July 2017


RLD DEVELOPMENTS AND CONTROVERSIES 561

FIGURE 10: A, B Type 4 thumb hypoplasia before CeE pollicization of a fully functional index finger and F, G outcome at 4 years
follow-up shows good opposition and prehension of the new thumb.

is similarly deficient: pollicized hands take longer and that may favor this technique over others, although
score lower on functional hand tests.46 Whereas this recent papers also indicate that there may be suffi-
is inextricably tied to the poor strength and flexibility cient satisfaction with less technically demanding
of the thumb, pollicized hands also have poor reconstructions.30,31 Treatment of thumb hypoplasia
dynamic control of their thumb, a function of is less controversial: opponensplasty and MCP sta-
neuromuscular coordination.48 Nonetheless, polli- bilization remains the treatment of choice for hypo-
cized hands tend to develop at a rate comparable with plastic thumbs with an intact carpometacarpal joint
that of age-matched controls in both strength and whereas index pollicization is the well-described
dexterity.49 By and large, patients and their parents, treatment of choice for more severe thumb hypopla-
including those with more advanced radial dysplasia, sia. However, as we continue to elucidate the long-
tend to be satisfied with the function and cosmesis of term outcomes of function, strength, and motion of
their new thumb.46 these reconstructive techniques, there remains some
controversy regarding the optimal way to stratify
Discussion these patients for which operation best serves them.
Treatment of RLD must address both the deficiency
of the radius and thumb hypoplasia. Centralization ACKNOWLEDGMENTS
has historically been the treatment of choice to cor- The authors thank Dr Scott Kozin for contributing
rect the abnormality at the wrist, but it often results images to this manuscript.
in recurrence of angulation and exaggerates limb
shortening. Recent advances have focused on soft
REFERENCES
tissue release or distraction and vascularized epiph-
yseal transfer of the second MTP or fibula. The short- 1. Koskimies E, Lindfors N, Gissler M, Peltonen J, Nietosvaara Y.
Congenital upper limb deficiencies and associated malformations in
and medium-term results of these transfers show Finland: a population-based study. J Hand Surg Am. 2011;36(6):
promise, with maintenance of radial column support 1058e1065.

J Hand Surg Am. r Vol. 42, July 2017


562 RLD DEVELOPMENTS AND CONTROVERSIES

2. Buck-Gramcko D. Pollicization of the index finger. Method and subsequent radialization for radial longitudinal deficiency. J Hand
results in aplasia and hypoplasia of the thumb. J Bone Joint Surg Am. Surg Am. 2012;37(10):2082e2087.
1971;53(8):1605e1617. 25. Pike JM, Manske PR, Steffen JA, Goldfarb CA. Ulnocarpal
3. Littler JW. The neurovascular pedicle method of digital transposition epiphyseal arthrodesis for recurrent deformity after centralization for
for reconstruction of the thumb. Plast Reconstr Surg (1946). radial longitudinal deficiency. J Hand Surg Am. 2010;35(11):
1953;12(5):303e319. 1755e1761.
4. Riordan DC. Congenital absence of the radius. J Bone Joint Surg Am. 26. Sestero AM, Van Heest A, Agel J. Ulnar growth patterns in
1955;37-A(6):1129e1139; discussion, 1139e1140. radial longitudinal deficiency. J Hand Surg Am. 2006;31(6):
5. Lamb D. The treatment of radial club hand absent radius, aplasia of 960e967.
the radius, hypoplasia of the radius, radial paraxial hemimelia. Hand 27. Heikel HV. Aplasia and hypoplasia of the radius: studies on 64 cases
(N Y). 1972;4(1):22e30. and on epiphyseal transplantation in rabbits with the imitated defect.
6. Oberg KC, Feenstra JM, Manske PR, Tonkin MA. Develop- Acta Orthop Scand. 1959;30(Suppl 39):3e155.
mental biology and classification of congenital anomalies of the 28. Vilkki SK. Vascularized metatarsophalangeal joint transfer for radial
hand and upper extremity. J Hand Surg Am. 2010;35(12): hypoplasia. Semin Plast Surg. 2008;22(3):195e212.
2066e2076. 29. Yang J, Qin B, Li P, Fu G, Xiang J, Gu L. Vascularized proximal
7. Tonkin MA, Tolerton SK, Quick TJ, et al. Classification of fibular epiphyseal transfer for Bayne and Klug type III radial longitu-
congenital anomalies of the hand and upper limb: development and dinal deficiency in children. Plast Reconstr Surg. 2015;135(1):
assessment of a new system. J Hand Surg Am. 2013;38(9): 157ee166e.
1845e1853. 30. Vuillermin C, Wall L, Mills J, et al. Soft tissue release and bilobed
8. Sheeba CJ, Andrade RP, Palmeirim I. Getting a handle on flap for severe radial longitudinal deficiency. J Hand Surg Am.
embryo limb development: molecular interactions driving 2015;40(5):894e899.
limb outgrowth and patterning. Semin Cell Dev Biol. 2016;49: 31. Vuillermin C, Butler L, Ezaki M, Oishi S. Ulna growth patterns after
92e101. soft tissue release with bilobed flap in radial longitudinal deficiency.
9. Li D, Sakuma R, Vakili NA, et al. Formation of proximal and J Pediatr Orthop. 2016 Jun 8. Epub ahead of print.
anterior limb skeleton requires early function of Irx3 and Irx5 and is 32. Manske PR, McCarroll HR Jr. Reconstruction of the congenitally
negatively regulated by Shh signaling. Dev Cell. 2014;29(2): deficient thumb. Hand Clin. 1992;8(1):177e196.
233e240. 33. Blauth W. The hypoplastic thumb [in German]. Arch Orthop
10. Piper SL, Dicke JM, Wall LB, Shen TS, Goldfarb CA. Prenatal Unfallchir. 1967;62(3):225e246.
detection of upper limb differences with obstetric ultrasound. J Hand 34. Tonkin MA. On the classification of congenital thumb hypoplasia.
Surg Am. 2015;40(7):1310e1317.e3. J Hand Surg Eur Vol. 2014;39(9):948e955.
11. Goldfarb CA, Wall L, Manske PR. Radial longitudinal deficiency: 35. de Kraker M, Selles RW, Zuidam JM, Molenaar HM, Stam HJ,
the incidence of associated medical and musculoskeletal conditions. Hovius SE. Outcome of flexor digitorum superficialis opponensplasty
J Hand Surg Am. 2006;31(7):1176e1182. for Type II and IIIA thumb hypoplasia. J Hand Surg Eur Vol.
12. Wall LB, Ezaki M, Oishi SN. Management of congenital radial 2016;41(3):258e264.
longitudinal deficiency: controversies and current concepts. Plast 36. Vuillermin C, Butler L, Lake A, Ezaki M, Oishi S. Flexor digitorum
Reconstr Surg. 2013;132(1):122e128. superficialis opposition transfer for augmenting function in types II
13. Bayne LG, Klug SM. Long-term review of the surgical treatment of and IIIA thumb hypoplasia. J Hand Surg Am. 2016;41(2):244e249.
radial deficiencies. J Hand Surg Am. 1987;12(2):169e179. 37. Kozin SH, Ezaki M. Flexor digitorum superficialis opponensplasty
14. James MA, McCarroll HR Jr, Manske PR. The spectrum of radial with ulnar collateral ligament reconstruction for thumb deficiency.
longitudinal deficiency: a modified classification. J Hand Surg Am. Tech Hand Up Extrem Surg. 2010;14(1):46e50.
1999;24(6):1145e1155. 38. Al-Qattan MM. Pollicization of the index finger requiring secondary
15. Goldfarb CA, Manske PR, Busa R, Mills J, Carter P, Ezaki M. fusion of the new metacarpophalangeal joint. J Hand Surg Eur Vol.
Upper-extremity phocomelia reexamined: a longitudinal dysplasia. 2016;41(3):295e300.
J Bone Joint Surg Am. 2005;87(12):2639e2648. 39. Foucher G, Medina J, Lorea P, Pivato G. Principalization of polli-
16. Buck-Gramcko D. Radialization as a new treatment for radial club cization of the index finger in congenital absence of the thumb. Tech
hand. J Hand Surg Am. 1985;10(6 Pt 2):964e968. Hand Up Extrem Surg. 2005;9(2):96e104.
17. Bora FW Jr, Osterman AL, Kaneda RR, Esterhai J. Radial club-hand 40. Kozin SH. Pollicization: the concept, technical details, and outcome.
deformity. Long-term follow-up. J Bone Joint Surg Am. 1981;63(5): Clin Orthop Surg. 2012;4(1):18e35.
741e745. 41. Goldfarb CA, Monroe E, Steffen J, Manske PR. Incidence and treat-
18. Kotwal PP, Varshney MK, Soral A. Comparison of surgical ment of complications, suboptimal outcomes, and functional
treatment and nonoperative management for radial longitudinal deficiencies after pollicization. J Hand Surg Am. 2009;34(7):
deficiency. J Hand Surg Eur Vol. 2012;37(2):161e169. 1291e1797.
19. Sayre RH. A contribution to the study of club-hand. Trans Am 42. Taghinia AH, Littler JW, Upton J. Refinements in pollicization:
Orthop Assoc. 1894;1(1):208e216. a 30-year experience. Plast Reconstr Surg. 2012;130(3):423ee433e.
20. Kessler I. Centralisation of the radial club hand by gradual distrac- 43. Lightdale-Miric N, Mueske NM, Lawrence EL, et al. Long term
tion. J Hand Surg Br. 1989;14(1):37e42. functional outcomes after early childhood pollicization. J Hand Ther.
21. Damore E, Kozin SH, Thoder JJ, Porter S. The recurrence of 2015;28(2):158e166.
deformity after surgical centralization for radial clubhand. J Hand 44. Netscher DT, Aliu O, Sandvall BK, et al. Functional outcomes of
Surg Am. 2000;25(4):745e751. children with index pollicizations for thumb deficiency. J Hand Surg
22. Lamb DW. Radial club hand. A continuing study of sixty-eight Am. 2013;38(2):250e257.
patients with one hundred and seventeen club hands. J Bone Joint 45. Tan JSW, Tu Y. Comparative study of outcomes between pollici-
Surg Am. 1977;59(1):1e13. zation and microsurgical second toe-metatarsal bone transfer for
23. Manske MC, Wall LB, Steffen JA, Goldfarb CA. The effect of soft congenital radial deficiency with hypoplastic thumb. J Reconstr
tissue distraction on deformity recurrence after centralization for Microsurg. 2013;29(9):587e592.
radial longitudinal deficiency. J Hand Surg Am. 2014;39(5): 46. de Kraker M, Selles RW, van Vooren J, Stam HJ, Hovius SE.
895e901. Outcome after pollicization: comparison of patients with mild and
24. Dana C, Aurégan JC, Salon A, Guéro S, Glorion C, Pannier S. severe longitudinal radial deficiency. Plast Reconstr Surg.
Recurrence of radial bowing after soft tissue distraction and 2013;131(4):544ee551e.

J Hand Surg Am. r Vol. 42, July 2017


RLD DEVELOPMENTS AND CONTROVERSIES 563

47. Manske PR, Rotman MB, Dailey LA. Long-term functional results a. Christen T, Dautel G. Type II and IIIA thumb hypoplasia recon-
after pollicization for the congenitally deficient thumb. J Hand Surg struction. J Hand Surg Am. 2013;38(10):2009e2015.
Am. 1992;17(6):1064e1072. b. Light TR, Gaffey JL. Reconstruction of the hypoplastic thumb. J Hand
48. Lightdale-Miric N, Mueske NM, Dayanidhi S, et al. Quantitative Surg Am. 2010;35(3):474e479.
assessment of dynamic control of fingertip forces after pollicization. c. Taghinia AH, Upton J. Index finger pollicization. J Hand Surg Am.
Gait Posture. 2015;41(1):1e6. 2011;36(2):333e339.
49. Aliu O, Netscher DT, Staines KG, Thornby J, Armenta AA. 5-year interval d. TSRH pollicization (Video D; available on the Journal’s Web site
evaluation of function after pollicization for congenital thumb aplasia using at www.jhandsurg.org). Oishi S. Presented at: American Society
multiple outcome measures. Plast Reconstr Surg. 2008;122(1):198e205. for Surgery of the Hand Annual Meeting: September 10e12,
2015; Seattle, WA. Also available at: Hand-e: http://www.assh.
org/hand-e.
EDITOR’S SUGGESTIONS FOR MORE e. Pollicization: Buck-Gramko incision (Video E; available on the
INFORMATION Journal’s Web site at www.jhandsurg.org). Bednar MS. Presented
at: American Society for Surgery of the Hand Annual Meeting:
The Editor chose to include these references and videos to provide September 10e12, 2015; Seattle, WA. Also available at: Hand-e:
readers with additional information. http://www.assh.org/hand-e.

JOURNAL CME QUESTIONS

Radial Longitudinal Deficiency: Recent 3. Patterning of the upper extremity along the
Developments, Controversies, and an anterior posterior axis during fetal development is
Evidence-Based Guide to Treatment primarily due to which of the following pairs of
structures and signaling pathways?
1. Compared to an unaffected limb, the ulna in
a. Apical ectodermal Ridge (AER), Fibroblast
limbs with type 3 and 4 radial longitudinal
Growth Factor 8 (Fgf8)
deficiency (RLD) grows to be:
b. Apical Ectodermal Ridge (AER), Wnt7a
a. 35% of normal ulnar length
c. Zone of Polarizing Activity (ZPA), Bone
b. 50% of normal ulnar length
Morphogenic Protein (BMP)
c. 65% of normal ulnar length
d. Zone of Polarizing Activity (ZPA), Sonic
d. 85% of normal ulnar length hedgehog (Shh)
e. Normal in length e. Zone of Polarizing Activity (ZPA), Fibroblast
Growth Factor 8 (Fgf8)
2. In types II and IIIA thumb hypoplasia, compared
to the Huber transfer, a particular advantage of the 4. A 3-week-old female patient with type 3 RLD
flexor digitorum superficialis (FDS) tendon transfer and thumb hypoplasia is also found to have an
opponensplasty is that: atrial septal defect and first degree heart block on
a. It has a more advantageous vector of force for electrocardiogram. A full work-up reveals she has a
thumb opposition normal complete blood count (CBC) and no
b. A slip of the FDS tendon can be used to reconstruct anomalies of the genitourinary or gastrointestinal
an incompetent thumb MP joint ulnar collateral systems. Which of the following is the most likely
ligament syndromic diagnosis in this child?
c. It provides a better thumb abduction force a. Holt-Oram Syndrome
d. It has greater oppositional strength b. Thrombocytopenia Absent Radius (TAR)
Syndrome
e. A slip of FDS is used to augment thumb meta-
carpophalangeal extension c. VACTERL association
d. Duane Syndrome
e. Fanconi Anemia

To take the online test and receive CME credit, go to http://www.jhandsurg.org/CME/home.

J Hand Surg Am. r Vol. 42, July 2017

You might also like