Thurston syndrome (oro-facial-digital syndrome type V) is an autosomal recessive condition characterized by median cleft of the upper lip, postaxial polydactyly of hands and feet, and oral manifestations. According to earlier reports, the syndrome is predominantly seen in subjects of Indian descent. We report a cast of Thurston syndrome in a 13-year-old south Indian boy who presented with oral features, incomplete median cleft of upper lip, and polydactyly of both hands and left foot. A precise clinical differentiation must be made since considerable overlap of the features of the various other forms could give rise to difficulties in diagnosing the condition.
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Thurston Syndrome: An Insight of a Rare Case and Literature Review.
Int J Clin Pediatr Dent
February 2024
Department of Oral and Maxillofacial Pathology, Kalinga Institute of Dental Sciences (KIDS), KIIT Deemed to be University, Bhubaneswar, Odisha, India.
Article Synopsis
- An unusual case of a 2-month-old girl with multiple congenital abnormalities was reported, including cleft palate and polydactyly, raising suspicion for an oral-facial-digital syndrome (OFDS).
- Genetic testing confirmed the diagnosis as OFDS type-V, also known as Thurston syndrome.
- The article provides a summary of the case along with a literature review on OFDS, covering its causes, inheritance patterns, symptoms, and potential management options.
Thurston syndrome with thalassaemia: a rare case devising a novel molecular and phenotypic variation.
BMJ Case Rep
December 2023
Paediatrics, All India Institute of Medical Sciences, Rishikesh, Uttarakhand, India.
A male infant presented with progressive paleness of the body since 3 months of age. On examination, the child had pallor, microcephaly with dysmorphic facies (depressed nasal bridge, low set ears, retrognathia, high arched palate and tongue hamartoma). Postaxial polydactyly in bilateral hands and feet, broad great toes, with syndactyly of left fourth and fifth toes were present.
View Article and Find Full Text PDFMidline Cleft of Lip With Preaxial Polydactyly in One Hand: A Possible New Variation of Thurston Syndrome?
Cleft Palate Craniofac J
April 2020
Department of Oral & Maxillofacial Surgery, Faculty of Dental Sciences, SGT University, Gurugram, Haryana, India.
Oral-facial-digital syndromes are a group of disorders with various subtypes. Type V, also known as the Thurston syndrome, is an autosomal recessive condition characterized by median cleft of the upper lip, postaxial polydactyly of hands and feet, and oral manifestations. Majority of the cases reported in the literature have been of Indian ethnic origin.
View Article and Find Full Text PDFThurston syndrome: an uncommon disorder presenting with common abnormalities.
J Craniofac Surg
March 2013
Department of Plastic Surgery, PGIMER, Chandigarh, India.
This article describes an infant who had a combination of malformations. The boy had a median cleft of the lip, cleft of the soft palate, microcephaly, and ulnar polydactyly of both hands and feet. All of these are relatively commonly encountered in any plastic surgical outpatient department.
View Article and Find Full Text PDFThurston syndrome: oral and systemic manifestations. Case report and review of the literature.
Quintessence Int
April 2010
Department of Oral Medicine and Radiology, S. D. M. College of Dental Sciences and Hospital, Dharwad, Karnataka, India.
Orofaciodigital (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 as oroacral disorders. Nine subtypes of OFD syndromes have been identified. OFD type V is known as Thurston syndrome, of which only 11 cases have been reported to date.
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