Title: THURSTON SYNDROME: Oral and systemic manifestations.

Case report and

review of literature
Dr. Venkatesh G Naikmasur M.D.S.

Professor & Head, Department of Oral Medicine and Radiology

Sri Dharmasthala Manjunatheshwara College of Dental Sciences & Hospital, Dharwad

Karnataka – 580 009, India.

Email : vnmasur@gmail.com

FAX NO: +918362467612

Dr. Arpita Rai (M.D.S).

Post Graduate student, Department of Oral Medicine and Radiology

Sri Dharmasthala Manjunatheshwara College of Dental Sciences & Hospital, Dharwad,

Karnataka- 580 009, India.

Email : arpitadoc@gmail.com

FAX NO: +918362467612

Dr. Manjunatha M. Revanappa (M.D.S).

Post Graduate student, Department of Oral Medicine and Radiology

Sri Dharmasthala Manjunatheshwara College of Dental Sciences & Hospital, Dharwad,

Karnataka- 580 009, India.

Email : manju4744@yahoo.co.in

FAX NO: +918362467612

Dr. Sunil Mutalik M.D.S.

Assistant Professor, Department of Oral Medicine and Radiology

Sri Dharmasthala Manjunatheshwara College of Dental Sciences & Hospital, Dharwad,

Karnataka- 580 009, India.

drsunil00@rediffmail.com

FAX NO: +918362467612

ABSTRACT

Oral-facial-digital (OFD) syndrome is a generic name for a variety of different but

possibly related genetic disorders that result in malformations of the mouth, teeth, jaw,

facial bones, hands and feet and are therefore categorized under oro-acral disorders. 9

different subtypes of OFD syndromes have been identified. OFD Type V is known as

Thurston syndrome of which only 11 cases have been reported so far. We report a case of

19 year old male with this syndrome. A brief review of previously reported cases and

discussion of anomalies of the syndrome is presented.

KEYWORDS

Thurston syndrome, Oro-facial-digital Syndrome, Median cleft lip, Postaxial polydactyly,

Oro – acral, Autosomal recessive.

INTRODUCTION

Oro-facial-digital syndromes (OFD) are a group of congenital abnormalities categorized

under Oro-acral disorders1. 9 different subtypes of OFD syndromes have been identified2.

Common to all are minor facial anomalies, oral findings and digital anomalies. OFD Type V is

known as Thurston syndrome. Thurston in 1909 was the first to report the presence of postaxial

polydactyly with median cleft of upper lip, in a Hindu family3. Oral manifestations of Thurston

syndrome include enamel hypoplasia, hypodontia, hyperplastic frenula, supernumerary teeth and

highly arched palate4. The relative rarity of this syndrome can be assesed from the fact that only

11 cases of this syndrome have been published so far in world literature. One interesting finding

about the syndrome is that with the exception of 2 cases, all subjects were of Indian descent4. We

report a case of Thurston syndrome in a 19-year-old Indian male who presented with oral

features, median cleft of upper lip and polydactyly of both hands and feet.

CASE REPORT

A 19 year old Indian male, reported to the Department of Oral Medicine and Radiology,

for thermal sensitivity of teeth since one month. Patient was one of the three siblings of non

consanguineous parents with no family history of orofacial or acral malformations. He was

moderately built, well nourished and appeared to have normal intelligence. Routine general

physical examination revealed an extra finger in both hands in the postaxial position (Figure 1).

While the extra digit in left hand was a well formed articulated digit (presenting as Type A of

Temtamy and McKusick classification5), the one in the right hand appeared rudimentary (Type
B5). Postaxial polydactyly was observed in both feet (Figure 1) presenting as sixth ray

duplication (Watanabe et al6). No functional deficit in relation to hands or feet was noticed. On

extra oral examination, midline cleft of the upper lip (Figure 2) was seen which extended till the

vermilion border. Intra – orally multiple missing permanent teeth (41,32,33,34) and a number of

retained deciduous teeth (53,72,73,74,81) were noted. 16,26,37,47 were decayed and 73, 74, 75

had cervical abrasion, which could be attributed to patient’s chief complaint. 31 was rotated

distolingually. All dental findings were confirmed by orthopantomogram (Figure 3). Presence of

double freni in lower labial vestibule was noted (figure 2). No associated tongue or palate

anomalies were evident.

Hand and wrist radiograph showed Type II postaxial polydactyly of right hand (presence of

extra phalanges) and Type IV17(complete metacarpal duplication without carpal duplication) of

left hand (Figure 4). Radiograph of feet (Figure 4) revealed presence of a Y- shaped metatarsal

(one of the four metatarsal patterns of Venn – Watson morphological classification of

polydactyly of feet8) in both feet.

The diagnosis of OFD V was arrived based on presence of median cleft of upper lip, double

freni, and bilateral post axial polydactyly of both hands and feet. Orthodontic consultation and

opinion regarding surgical correction of upper lip was sought. Patient is currently undergoing

treatment for functional & esthetic corrections.

DISCUSSION

THURSTON SYNDROME or OFD V is well recognised as an autosomal recessive

congenital condition, clinically presenting as post axial polydactyly, median cleft of upper lip,
duplicated frenulum and other oral manifestations. Since the first case of OFD V was reported by

Thurston in 19093, only a few sporadic cases on this syndrome have been reported. Confusion

exists over the incidence of this syndrome. A thorough survey of the English language literature

encompassing PubMEd and Google Scholar search revealed 10 cases similar to that described by

Thurston (Table1)

Polydactyly is generally classified into three major groups: medial ray (preaxial), central

ray and lateral ray (postaxial). Of the three types, postaxial polydactyly is encountered most

frequently. Several classifications have been proposed in the literature to systematize this

variable malformation, primarily based on morphology.

Watanabe et al6 proposed a morphological classification of polydactyly of foot based on

type of ray involvement and level of duplication. Lateral-ray polydactyly was divided into fifth-

ray duplication (medial supernumerary toe) and sixth-ray duplication (lateral supernumerary

toe). In Venn-Watson8 classification of postaxial four metatarsal patterns were noted: soft-tissue

duplication, wide metatarsal head, Y-shaped metatarsal and complete duplication. In the present

case, sixth – ray duplication was evident in both feet, on clinical examination with Y- shaped

metatarsal bone seen bilaterally on anterio- posterior feet radiographs.

Reports of polydactyly of the hand are numerous. According to Temtamy and McKusick 5

postaxial polydactyly is divided into types A and B. In type A the extra digit is well formed,

articulates with the fifth or extra metacarpal and is inherited as a dominant trait with reduced

penetrance. Type B is represented by a poorly differentiated extra digit, usually just a skin tag

attached to the fifth finger. The inheritance of type B is unclear. The classification system

followed by American society for surgery of hand7 is given in Table 2. Our case presented with

type A polydactyly of left hand and type B polydactyly of right hand clinically which was later
confirmed as type IV 1 of left hand & type II of right hand respectively by hand and wrist

radiographs.

One other interesting finding of OFD V is frenulum duplication. Abnormal frena have

been found associated with several genetic and chromosomal conditions, other than OFD

syndromes, such as Ehlers-Danlos syndrome (EDS), infantile hypertrophic pyloric stenosis

(IHPS), Ellisevan Creveld syndrome (EVCS) and holoprosencephaly18. Munke et al. noted oral

frenula as a finding in Thurston syndrome19.

Median cleft of upper lip is the other diagnostic feature of Thurston syndrome. Its

incidence is about 1: 10,00,000 births and may occur as a sporadic event or as a part of an

inherited sequence of anomalies such as DeMyer sequence or median cleft face syndrome.20

Close differential diagnosis for Thurston syndrome is OFD type VI which mimics this

condition except for cerebellar anomalies and absence of oral frenula.21 Other OFD syndromes to

be excluded in the differential diagnosis are OFD IV (Baraitser- Burn syndrome), OFD III

(Sugarman syndrome), OFD I (Papillon-League-Psaume syndrome), and OFD II (Mohr

syndrome).22

The diagnosis of Thurston syndrome can be easily made based on clinical and

radiological findings. A brief knowledge of various limb anomalies is essential to diagnose this

condition. Management of oral manifestations in these patients can be achieved by conventional

treatment methods like orthodontic correction for alignment of teeth supplemented by extraction

of over retained teeth. Surgical intervention for esthetic correction of median cleft of lip should

be sought.
 FIGURE 1

FIGURE 2
FIGURE 3
FIGURE 4
LEGENDS FOR FIGURES

1. FIGURE 1 – Postaxial polydactyly of both hands and feet

2. FIGURE 2 – Midline cleft of the upper lip

3. Figure 3 - Double frenula in mandibular labial vestibule.

4. FIGURE 4 – Orthopantomogram showing multiple impacted permanent teeth and

retained primary teeth.

5. FIGURE 5a – Hand and wrist radiograph showing Type II postaxial polydactyly of right

hand and Type IV1 polydactyly of left hand.

6. FIGURE 5b - Anterior – Posterior feet radiograph showing Y – shaped metatarsals of

both feet.
TABLE 1- SUMMARY OF DATA OF REPORTED CASES OF THURSTON SYNDROME

CASE REPORTED BY YEAR MANIFESTATION DESCENT

NO.
1 THURSTON3 1909 Median cleft of upper INDIAN
lip, polydactyly
2 RISCHBIETH9 1910 Median cleft of upper INDIAN
lip, polydactyly
3 BURIAN10 1962 Median cleft of upper NON
lip, bilateral INDIAN
hexadactyly,
reduplication of
halluces
4 CHAURASIA & GOSWAMI11 1973 Median cleft of upper INDIAN
lip, bilateral
hexadactyly,
5 CHOWDHARY12 1975 Median cleft of upper INDIAN
lip, bilateral
hexadactyly,
6 KHOO & SAAD13 1980 Median cleft of upper INDIAN
lip,polydactyly,
syndactyly, multiple toe
anomalies
7 SIDHU & GREWAL14 1980 Hypertelorism, cleft lip, INDIAN
Brachydactyly,
syndactyly
8 GOPALAKRISHNAN & 1982 Median cleft lip, INDIAN
THATTE15 bilateral polydactyly,
9 CRISTOPHOROU AND 1983 Non median cleft lip, NON
NICOLAIDOU 16 Brachydactyly, INDIAN
syndactyly
10 PRAMOD KUMAR17 1988 Cleft lip, polydactyly, INDIAN
11 ASHIMA4 2006 Median cleft of upper INDIAN
lip, polydactyly,
TABLE 2 - CLASSIFICATION SYSTEM FOLLOWED BY AMERICAN SOCIETY FOR
SURGERY OF HAND FOR POSTAXIAL POLYDACTYLY OF HAND

Postaxial Polydactyly7
I Soft tissue
II Extra phalanges
III Two fingers on single metacarpal head
IV Y shaped metacarpal
IV1 Without carpal duplication
IV Complete metacarpal duplication
IV2 With associated carpal duplication
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