Evaluationofthechild Withshortstature: Charles T. Mehlman,, Michael C. Ain

E v a l u a t i o n o f t h e Ch i l d
w ith Short St ature

Charles T. Mehlman, DO, MPHa,*, Michael C. Ain, MDb
KEYWORDS
Prenatal evaluation Children Short stature Differential diagnosis Physical examination
KEY POINTS
Orthopedic surgeons frequently encounter short statured patients. A systematic approach is
needed for proper evaluation of these children.
The differential diagnosis includes both proportionate and disproportionate short stature types.
A proper history and physical examination and judicious use of plain film radiography will establish
the diagnosis in most cases.
In addition to the orthopedic surgeon, most of these patients will also be evaluated by other spe-
cialists, including endocrinologists and geneticists.
INTRODUCTION Egypt. There also were powerful short statured

Egyptian gods with the god Bes (god of music
Normal growth and development usually proceed and warfare) and the god Ptah (a god of creation
quite smoothly from single-celled zygote all the and master architect of the universe) serving as
way to an approximately one hundred trillion– excellent examples.4
celled adult human being.1 Three discernable In 1951 when Sir Harold Arthur Thomas Fairbank
growth spurts occur, with the first being intrauter- (at 75 years of age) published his classic Atlas of
ine (and arguably the most dramatic), the second General Affections of the Skeleton, he helped bring
involving the first 2 years of life (with about a order to the chaos of this complex mixture of
100% increase in size of the child), and the third musculoskeletal entities. This article focuses on
is the adolescent (also known as pubescent) important orthopedic aspects in the evaluation of
growth spurt. The amazing thing may not be that short stature in children with a particular focus
growth aberrations occur, but that they do not on skeletal dysplasia. It does not focus on each
occur more frequently. When a child falls 2 stan- and every diagnostic entity, but rather the options
dard deviations or more below the average height that must be considered and the process one may
for age, sex, and ethnic group established norms, undertake to arrive at the most precise diagnosis.
they are considered to have short stature.2
Short statured humans have been well- DIFFERENTIAL DIAGNOSIS
recognized by others within society all the way
back to antiquity. For instance, the ancient Egyp- The differential diagnosis for short stature is
tian sarcophagus carving of Djeho offers a detailed exhaustive and includes what have been referred
picture of a prominent citizen with achondro- to as proportionate and disproportionate
plasia3 (Fig. 1). Djeho lived around 360 BC and types.5–8 Comprehensive evaluation often in-
worked with the chief financial officer of Upper cludes referrals to pediatric subspecialists like
orthopedic.theclinics.com
a
Division of Pediatric Orthopaedic Surgery, Cincinnati Children’s Hospital Medical Center, MLC 2017, 3333
Burnet Avenue, Cincinnati, OH 45229, USA; b Department of Orthopaedic Surgery, The Johns Hopkins Univer-
sity, 1800 Orleans street, Baltimore, MD 21287, USA
* Corresponding author.
E-mail address: charles.mehlman@cchmc.org
Orthop Clin N Am 46 (2015) 523–531

http://dx.doi.org/10.1016/j.ocl.2015.06.006
0030-5898/15/$ – see front matter Ó 2015 Elsevier Inc. All rights reserved.
Descargado para Maria de los Ángeles Soto Amaya (masoto@fucsalud.edu.co) en Pontifical Xavierian University de ClinicalKey.es por Elsevier en agosto 27,
2023. Para uso personal exclusivamente. No se permiten otros usos sin autorización. Copyright ©2023. Elsevier Inc. Todos los derechos reservados.
524 Mehlman & Ain
and idiopathic short stature.10,11 Multiple evalua-

tions over time may be quite valuable, because
skeletal dysplasia may be later confirmed in up
to 20% of patients previously labeled as idio-
pathic short stature or small for gestational
age.12 This paper does not focus on these pro-
portionate short stature types because it is
extremely rare for such patients to present undi-
agnosed to the orthopedic surgeon.
Disproportionate short stature relates to an
improper balance between standing height and
sitting height. In normal populations, the sitting
height/standing height ratio has been shown to
be approximately 0.7 at birth and closer to 0.5 at
skeletal maturity.13 Standing height has contribu-
tions from both limb length as well as trunk length,
whereas sitting height is effectively all about trunk
length. One broad (and imperfect) generalization is
that disproportionate short stature can be divided
into those characterized mainly by shortened
limbs and those mainly characterized by a short-
ened trunk. In the past, these have been referred
to as short limb dwarfism and short trunk
dwarfism.14 Fig. 2 illustrates the striking contrast
that can be seen when assessing standing height
Fig. 1. Sarcophagus carving of Djeho illustrating
typical features of achondroplasia.
and sitting height. The sitting height/standing
height ratio has been shown to be of significant
endocrinology and genetics.9 Proportionate short clinical value.15,16 In addition to many other more
stature may be owing to familial short stature, in- sophisticated methods, the relative femoral and
trauterine growth retardation (commonly owing to tibial contributions to lower limb length discrep-
smoking), constitutional delay of growth, occult ancy can be determined by instantaneous limb
medical diseases (including endocrinopathy), length assessment (Fig. 3).17
Fig. 2. Standing height versus sitting height. (A) A normal statured female standing back to back with a female
with skeletal dysplasia. This illustrates a significant difference in standing height. (B) The same normal statured
female and female with skeletal dysplasia sitting side by side, illustrating nearly identical sitting height.
Evaluation of the Child with Short Stature 525
Fig. 3. Instantaneous leg length assessment. (A) With the patient supine femoral length is assessed with knees
and hips flexed to 90 . (B) Measurement of knee height inequality with a ruler. (C) With the patient prone tibial
(lower leg) length is assessed with knees flexed 90 and hips neutral. (D) Visualization of lower leg difference,
which also clearly accounts for any difference in foot size.
PRENATAL EVALUATION appropriate include a parent with a known skeletal

dysplasia, significant family history, and micomelic
Various imaging techniques (most commonly ul- or hypoplastic thorax ultrasound findings.25
trasonography) may be used to assess the unborn Although more firmly established for congenital
child suspected of having skeletal dysplasia.18,19 It central nervous system and cardiac anomalies,
should be remembered that as many as 80% of the role of fetal MRI continues to evolve in the
prenatally detected skeletal dysplasias are lethal, setting of prenatal evaluation of skeletal dyspla-
and thus the prenatal cohort and the live birth sias.26,27 It should also be remembered that ultra-
cohort are epidemiologically distinct.20 Under- sound remains the only recommended imaging in
standing this allows one to properly interpret the the first trimester.28 Information from fetal MRI
differential prevalence between live births and still may be considered complementary to that ob-
births (3.0 per 10,000 vs 20.0 per 10,000).21 A tained from ultrasound, adding additional findings
powerful rule of thumb is that until proven other- in about 30% of cases and changing the diagnosis
wise, age-adjusted fetal femoral length of less more than 50% of the time when considering all
than 40% indicates achondrogenesis, 40% to fetal diagnoses.29 However, when focusing on
60% is consistent with osteogenesis imperfecta musculoskeletal system fetal MRI, it is less likely
type II or thanotophoric dysplasia, and greater to show diagnostic advantages over ultrasound.29
than 80% of femoral length points to osteogenesis Researchers from the Cincinnati Children’s Hospi-
imperfecta type III or achondroplasia.22,23 Addi- tal have recently shown that fetal MRI can play a
tional prenatal cytogenetic and molecular genetic significant role in predicting lethal skeletal dyspla-
analysis may also be undertaken as indicated.24 sias based on fetal lung volume.30 Until these
Situations where such studies are felt to be various applications mature and clinical utility
526 Mehlman & Ain
becomes clear, the overall indications for fetal MRI depression may be a prominent feature of achon-
for suspected skeletal dysplasia remain limited. droplasia, whereas broadening of the same nasal
region is characteristic of mucopolysaccharido-
ses, like Hunter and Hurler syndromes. Abnormal-
PHYSICAL EXAMINATION
ities of the teeth and gums are common in Ellis van
Of the more than 450 known skeletal dysplasias, Crevald syndromes and cleft palate has been
only about 100 are discernable at birth. The associated with diastrophic dysplasia and many
remainder may not manifest until after 2 to 3 years other skeletal dysplasias.
of age.31 Height, weight, head circumference, and In addition to anthropomorphic measurements
growth velocity are all important parameters that of the trunk and extremities, particular attention
must be measured. There are significant rates of should be paid to several other areas. A markedly
hearing impairment among skeletal dysplasia pa- abducted thumb (hitchhiker’s thumb) is consistent
tients and it is reasonable for the orthopedist to with disastrohic dysplasia. Exceptionally well-
ask about prior hearing assessment.32 Airway formed polydactyly is strongly associated with
and pulmonary compromise are also common in Ellis van Crevald syndrome (Fig. 4). A trident hand
these patients and at times require sophisticated (relatively abducted index and long finger one
assessment.33,34 way and abducted ring and small finger the other
The impact on health-related quality of life way) is one of the hallmarks of achondroplasia.
caused by pain and decreased physical function Examination of the patient’s trunk and axial skel-
can be substantial in skeletal dysplasia pa- eton may also yield important findings. A dysmor-
tients.32,35,36 Many validated instruments are phic or otherwise distorted thoracic cage is
available to measure this in the clinical setting.36 associated with certain severe skeletal dysplasias
In the most common skeletal dysplasia, achon- like Jeune syndrome. Evidence of spinal deformity
droplasia, low back pain and lower extremity should be sought as a broad spectrum of scoliosis,
pain have been shown to be brutally progressive kyphosis, excessive lumbar lordosis, and kypho-
over time.37 An increased rate of sleep apnea scoliosis may manifest. Kyphotic spinal deformity
and sudden infant death syndrome have also may be particularly striking when the patient is
been identified in newborns with achondroplasia. seated, while the appearance improves signifi-
Multidisciplinary evaluation may include pediatric cantly while standing. Metatropic dysplasia is
otolaryngology as well as pediatric pulmonology particularly famous for its associated coccygeal
and sleep studies of even very young children tail. It also behooves the pediatric orthopedist to
are often indicated.38–40 remember that inguinal hernia is especially com-
There are several important points regarding the mon in individuals with skeletal dysplasia.
history and physical examination of short statured
patients during the newborn and early childhood RADIOGRAPHIC EVALUATION
periods. The craniofacial region should be in-
spected for a wide variety of abnormalities The evaluation of disproportionate short stature
including clouding of the cornea (eg, mucopoly- always involves plain radiography.31 Alanay and
saccharidoses), calcification of or overall thick- Lachman have described this as a 3-step radio-
ening of the ears (eg, diastrophic dwarfism), and graphic process (Box 1). The skeletal survey is
midface hypoplasia (eg, achondroplasia). Nasal firmly rooted in the evaluation of both child
Fig. 4. Clinical and radiographic illustration of Ellis van Crevald associated polydactyly. (A) Clinical photo showing
remarkably functional and well-formed polydactyly (6 digits on each hand). (B) Radiographic appearance of the
same patient.
Box 1 distance.43,44 Thoracolumbar kyphosis with

Three-step method of Alanay and Lachman associated vertebral body wedging is also a
common finding in patients with achondroplasia
Step 1: Assess relative disproportion of spine (Fig. 5).45 In most instances, this kyphosis re-
and extremities solves spontaneously, although in a minority of
Step 2: Assess epiphyses, metaphyses, and cases it demonstrates relentless progression.46
diaphyses Varus lower extremity alignment is also com-
Step 3: Differentiate pathology from normal mon.47–49 Midface hypoplasia is associated
variants with radiographically underdeveloped facial
structure. Stenosis of the foramen magnum is a
Data from Alanay Y, Lachman RS. A review of the prin-
particularly important radiographic problem to
ciples of radiological assessment of skeletal dysplasias.
J Clin Res Pediatr Endocrinol 2011;3:163–78. identify, because if left untreated, devastating
neurologic consequences may occur. It has
been recommended that all infants be screened
for foramen magnum stenosis.50
abuse and skeletal dysplasia, but skeletal A cluster of other radiographic findings including
dysplasia patients require fewer views.11,41 Rec- rhizomelic shortening, flaring of the metaphyses,
ommended skeletal survey views established by and the so-called inverted V shape of the physis
the American College of Radiology for skeletal of the distal femur are all explained by the genetic
dysplasias and syndromes are listed in Box 2. root cause of achondroplasia. The FGF receptor 3
An interactive digital atlas of the most common defect leads to a dysfunctional proliferative zone of
skeletal dysplasias has also recently been the physis, thus disrupting proper endochondral
created.42 Now we will highlight some of the ossification. Therefore, the fastest growing growth
classic radiographic findings associated with plates, which lie in the proximal limb segments
skeletal dysplasias. (like the proximal humerus and that of the distal fe-
It has been said that the key radiographic mur) take a disproportionate hit leading to the rhi-
feature of achondroplasia is the characteristic zomelic effect. It must also be remembered that
caudal narrowing of lumbar interpedicular intramembranous ossification proceeds relatively
undisturbed, and this leads to the metaphyseal
flaring and inverted V aspects of the observed
radiography.
Spondyloepiphyseal dysplasia (SED) is notorious
Box 2
Skeletal survey for suspected skeletal for its associated atlantoaxial instability (Fig. 6). An
dysplasia/syndromes autosomal-dominant form of SED presenting with
atlantoaxial instability and neurologic compromise
Appendicular skeleton has been reported by researcher from the Hospital
AP humeri for Sick Children in London, England.51 The verte-
bral body involvement in SED has been variably
AP forearms
described as the pear-shaped appearance in in-
PA hands fancy (posterior vertebral body narrowing) to the
AP femurs extensive platyspondyly and flame-shaped
AP lower legs vertebra of older individuals. The classic finding
(which SED shares with multiple epiphyseal
AP feet dysplasia) is the markedly delayed and irregular
Axial skeleton ossification of the capital femoral epiphyses.
AP and lateral of skull The mucopolysaccharide disorders also may
present with a vast array of radiographic find-
Lateral C-spine ings.52,53 Collectively, these have been referred
Lateral lumbosacral spine to as dysostosis multiplex. White and Sousa54
AP pelvis (to include mid lumbar spine) have provided a fine list of these abnormalities
(Box 3), noting that they vary based on both the
AP, Lateral, both obliques of thorax
age of the patient and the specific mucopolysac-
Abbreviations: AP, anteroposterior; C-spine, cervical charide disorder. Modern medical therapies have
spine; PA, posteroanterior. significantly improved the lives and life spans of
Data from Hansen KK, Keeshim BR, Flaherty E, et al.
Sensitivity of the limited view follow-up skeletal sur-
many mucopolysaccharide patients, but not to
vey. Pediatrics 2014;134(2):242–8. the point that these bony abnormalities are
prevented.55,56
528 Mehlman & Ain
Fig. 5. Spinal radiographs of a child with achondroplasia. (A) Anteroposterior radiograph demonstrating pro-
gressive narrowing of L1 to L5 lumbar pedicle distance. (B) Standing lateral radiograph illustrating commonly
seen wedging of L2 vertebra along with thoracolumbar kyphosis.
GENETIC/CHROMOSOMAL EVALUATION Medical Genetics published their practice guide-

line for the genetic evaluation of short stature.11
Consultation with a clinical geneticist is a vital step These authors assert the importance of the history
in establishing an accurate diagnosis and prog- and physical examination in short stature patients,
nosis.57,58 In 2009, the American College of
Fig. 6. Atlantoaxial instability in child with spondyloepiphyseal dysplasia. (A) Neutral lateral cervical spine radio-
graph showing increase in atlantodens interval and decrease in space available for cord. (B) Postoperative radio-
graph after C1 decompressive laminectomy and occipitocervical fusion (occiput to C3) with autogenous iliac crest
bone graft. Halo vest immobilization was also utilized.
5. Bailey JA. Orthopaedic aspects of achondroplasia.

Box 3
Radiographic findings in mucopolysaccharide J Bone Joint Surg Am 1970;52-A:1285–301.
disorders 6. Kaufmann HJ. Classification of the skeletal dyspla-
sias and the radiologic approach to their differentia-
Hip dysplasia tion. Clin Orthop Relat Res 1976;114:12–7.
Coarsened long bones 7. Silverman FN, Brunner S. Errors in the diagnosis of
achondroplasia. Acta Radiol 1967;6:305–21.
Shortened ulna
8. Silverman FN. A differential diagnosis of achondro-
Madelung deformity of distal radius plasia. Radiol Clin North Am 1968;6:223–37.
Shortened metacarpals 9. Nampoothiri S, Yesodharan D, Sainulabdin G, et al.
Platyspondyly Eight years experience from a skeletal dysplasia
referral center in a tertiary hospital in Southern India:
Broad clavicles
a model for the diagnosis and treatment of rare dis-
Broad (oar-shaped) ribs eases in a developing country. Am J Med Genet A
Enlarged skull/thickened calavaria 2014;164A(9):2317–23.
J-shaped sella tursica 10. Lee MM. Idiopathic short stature. N Engl J Med
2006;354:2576–82.
Data from White KK, Sousa T. Mucopolysaccharide dis- 11. Seaver LH, Irons M. ACMG practice guideline: ge-
orders in orthopedic surgery. J Am Acad Orthop Surg
netic evaluation of short stature. Genet Med 2009;
2013;21:12–22.
11:465–70.
12. Flechtner I, Lambot-Juhan K, Teissier R, et al. Unex-
pected high frequency of skeletal dysplasia in idio-
and how a skeletal survey is indicated when faced pathic short stature and small for gestational age
with disproportionate short stature followed by se- patients. Eur J Endocrinol 2014;170:677–84.
lective use of genetic studies. They also state that 13. deArriba Munoz A, Dominguez Caja M, Rueda
in clinical situations where these initial measures Caballero C, et al. Sitting height/standing height ra-
do not indicate a clear diagnosis, chromosomal tio in a Spanish population from birth to adulthood.
analysis may be of great value, particularly in iden- Arch Argent Pediatr 2013;111:309–14.
tifying genetic mosaicism.11 14. Bailey JA. Disproportionate short stature: diagnosis
and management. 1st edition. Philadelphia: WB Sa-
unders; 1973. p. 5–25.
SUMMARY
15. Fredriks AM, vanBuuren S, vanHeel WJM, et al.
Short stature is not an uncommon concern. The Nationwide age references for sitting height leg
aim of this article was to provide an overview of length and sitting height/height ratio and their diag-
the evaluation of children presenting with this nostic value for disproportionate growth disorders.
problem. Many other entities associated with short Arch Dis Child 2005;90:807–12.
stature have not been discussed or illustrated in 16. Malaquias AC, Scalco RC, Fontenele EG, et al. The
this article. The main points that the authors feel sitting height/height ratio for age in healthy and short
the reader should take away are the importance individuals and its potential role in selecting short
of the history and physical examination and plain children for SHOX analysis. Horm Res Paediatr
film radiography as well as the importance of 2013;80:449–56.
multidisciplinary care. 17. Smith CF. Instantaneous leg length discrepancy
determination by the “thigh-leg” technique. Ortho-
pedics 1996;19:955–6.
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E v a l u a t i o n o f t h e Ch i l d

w ith Short St ature

INTRODUCTION Egypt. There also were powerful short statured

Orthop Clin N Am 46 (2015) 523–531

and idiopathic short stature.10,11 Multiple evalua-

PRENATAL EVALUATION appropriate include a parent with a known skeletal

Box 1 distance.43,44 Thoracolumbar kyphosis with

GENETIC/CHROMOSOMAL EVALUATION Medical Genetics published their practice guide-

5. Bailey JA. Orthopaedic aspects of achondroplasia.

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