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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.


FAX NO: +918362467612

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

Post Graduate student, Department of Oral Medicine and Radiology




FAX NO: +918362467612

Dr. Sunil Mutalik M.D.S.

Assistant Professor, Department of Oral Medicine and Radiology



[email protected]

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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REFERENCES

1. Brachial arch and Oral- Acral Disorders. In: Gorlin RG, Cohen MM, Hennekan RCM

(eds). Syndromes of the head and neck, ed 4.New York:Oxford University Press,

2001:790 -849.

2. Tsai Patricia S, O'Brien Joan M. Retinal Hamartoma in Oral-Facial-Digital Syndrome.

Archives of Opthalmology 1999;117(7) :963-965

3. Thurston EO. A case of median harelip associated with other malformations. Lancet II

1909;2 :996-7.

4. Ashima Valiathan, Arunachalam Sivakumar, David Marianayagam, Manna Valiathan,

Kapaettu Satyamoorthy. Thurston syndrome: Report of a new case. Oral Surg Oral Med

Oral Pathol Oral Radiol Endod 2006;101:757-60

5. Temtamy S, McKusick V: Synopsis of hand malformations with particular emphasis on

genetic factors. Birth Defects: Orig Art Ser 1969; 5(3):125-184.

6. Watanabe H., Fujita S., Oka I. Polydactyly of the foot: An analysis of 265 cases and a

morphological classification. Plast Reconstr Surg 1992; 89:856-877.

7. American society for surgery of hand. Classification of polydactyly.

http://www.eatonhand.com/clf/clf314.htm. (Accessed on 19.10.2008)

8. Venn-Watson E. A. Problems in polydactyly of the foot. Orthop Clin North Am 1976; 7:

909-927.

9. Rischbieth H. Harelip and cleft palate. In: Pearson K, editor. Treasury of human

inheritance part IV. London: Cambridge University Press; 1910: 79-123. [cited in:

reference 4].
http://www.eatonhand.com/clf/clf314.htm.%20(Accessedhttp://www.eatonhand.com/clf/clf314.htm.%20(Accessedhttp://www.eatonhand.com/clf/clf314.htm.%20(Accessedhttp://www.eatonhand.com/clf/clf314.htm.%20(Accessed


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10.Burian F. 1962 personal communication. In: Orodigito facial syndrome. Gorlin RJ,

Pindborg JJ (eds). Syndromes of the Head and Neck, ed 2. New York: McGraw-Hill;

1976: 163. [cited in: reference 4].

11. Chaurasia BD, Goswami HK. A contribution to the genetics of oral facial digital

(OFD) syndrome. Jpn J Hum Genet 1973; 18: 294 -299.

12. Chowdhary J. A study of five siblings with median cleft lips and polydactyly. Trans 6th

Int Cong Plast Reconstr Surg (Paris) 1975: 208 211. [cited in reference 1]

13. Khoo CTK and Saad MN. Median cleft of the upper lip in association with bilateral

hexadactyly and accessory toes. British Journal of Plastic Surgery 1980;33 (4): 407

409.

14. Sidhu SS, Grewal MS. Cleft lip, notched alveolus, postaxial polydactyly. Case 64.

Syndrome Ident 1980; 6 (1): 12 -13. [cited in reference 1]

15.Gopalakrishna A, Thatte RL. Median cleft lip associated with bimanual hexadactyly and

bilateral accessory toes: Another case. Brit J Plast Surg 1982; 35: 354-5.

16.Christophorou MN, Nicolaidou P. Median cleft lip, polydactyly, syndactyly and toe

anomalies in a non-Indian infant. Brit J Plast Surg 1983; 36:447-8.

17. Pramod Kumar, Sudhir Kumar Bhatnagar, Guru Dayal Singh Kalra, Arun Kumar Singh.

Median Cleft Lip with Bimanual Hexadactyly and Bilateral Accessory Toes. J. Cranio

Max. Fac. Surg.1988; 16: 243 -244.

18. Sheldon MM, Michael AS, Paul JS. An overview of oral frena and their association with

multiple syndromic and nonsyndromic conditions. Oral Surg Oral Med Oral Pathol Oral

Radiol Endod 2005; 99:321-4.


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19.Munke M, McDonald DM, Cronister A, Stewart JM, Gorlin RJ, Zackai EH. Oral-facial-

digital syndrome Type VI (Varadi syndrome): further clinical delineation. Am J Med

Genet 1990; 35:360-9.

20.Sanjay Saraf. Median cleft of the Lip: A rare facial anomaly. The Internet Journal Of

plastic Surgery 2006; 2 (2). http://www.ispub.com/ostia/index.php?

xmlFilePath=journals/ijps/vol2n2/cleft.xml. (Accessed on 22.10.2008)

21.Chung WY, Chung LP. A case of oral-facial-digital syndrome with overlapping

manifestations of type V and type VI: A possible new OFD syndrome. Pediatr Radiol

1999; 29: 268-271.

22.Jones KL (ed). Smiths recognizable pattern of human malformation. Philadelphia:

Saunders, 1997: 362-365.
http://www.ispub.com/ostia/index.php?xmlFilePath=journals/ijps/vol2n2/cleft.xmlhttp://www.ispub.com/ostia/index.php?xmlFilePath=journals/ijps/vol2n2/cleft.xmlhttp://www.ispub.com/ostia/index.php?xmlFilePath=journals/ijps/vol2n2/cleft.xmlhttp://www.ispub.com/ostia/index.php?xmlFilePath=journals/ijps/vol2n2/cleft.xml

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