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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 : [email protected]
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 : [email protected]
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 : [email protected]
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.
FAX NO: +918362467612
mailto:[email protected]:[email protected]:[email protected]:[email protected]:[email protected]:[email protected]:[email protected]:[email protected] -
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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.
http://www.healthline.com/galecontent/genetic-disorders-1http://www.healthline.com/galecontent/genetic-disorders-1 -
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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 descent 4. 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
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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 patients 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,
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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 al6proposed 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 McKusick5
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
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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.
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FIGURE 1
FIGURE 2
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FIGURE 3
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FIGURE 4
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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.
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TABLE 1- SUMMARY OF DATA OF REPORTED CASES OF THURSTON SYNDROME
CASE
NO.
REPORTED BY YEAR MANIFESTATION DESCENT
1 THURSTON3 1909 Median cleft of upper
lip, polydactyly
INDIAN
2 RISCHBIETH9 1910 Median cleft of upper
lip, polydactyly
INDIAN
3 BURIAN10 1962 Median cleft of upper lip, bilateral
hexadactyly,
reduplication ofhalluces
NONINDIAN
4 CHAURASIA & GOSWAMI11 1973 Median cleft of upper lip, bilateral
hexadactyly,
INDIAN
5 CHOWDHARY12
1975 Median cleft of upper lip, bilateral
hexadactyly,
INDIAN
6 KHOO & SAAD13 1980 Median cleft of upper
lip,polydactyly,
syndactyly, multiple toeanomalies
INDIAN
7 SIDHU & GREWAL14 1980 Hypertelorism, cleft lip,Brachydactyly,
syndactyly
INDIAN
8 GOPALAKRISHNAN &
THATTE15
1982 Median cleft lip,
bilateral polydactyly,
INDIAN
9 CRISTOPHOROU ANDNICOLAIDOU 16
1983 Non median cleft lip,Brachydactyly,
syndactyly
NONINDIAN
10 PRAMOD KUMAR 17 1988 Cleft lip, polydactyly, INDIAN
11 ASHIMA4 2006 Median cleft of upper lip, polydactyly,
INDIAN
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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
IV Complete metacarpal duplicationIV1 Without carpal duplication
IV2 With associated carpal duplication
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