Thurston syndrome: an uncommon disorder presenting with common abnormalities
Jerry R John1, Parmod Kumar, Ramesh Kumar Sharma
1Department of Plastic Surgery, PGIMER, Chandigarh, India. jerryrjohn@hotmail.com
The Journal of Craniofacial Surgery
|March 26, 2013
Summary
This case report details an infant with a rare combination of median cleft lip, cleft palate, microcephaly, and polydactyly. These oral-facial-digital anomalies highlight Thurston syndrome, a rare genetic condition.
Area of Science:
- Medical Genetics
- Pediatric Surgery
- Developmental Biology
Background:
- Oral-facial-digital syndromes (OFDS) represent a group of rare congenital anomalies characterized by malformations of the face, oral cavity, and digits.
- Thurston syndrome is a specific, though infrequently diagnosed, subtype within the broader OFDS classification.
- Understanding the phenotypic spectrum and genetic underpinnings of OFDS is crucial for accurate diagnosis and management.
Observation:
- The article presents a male infant with a unique constellation of congenital abnormalities.
- Observed malformations include median cleft lip, cleft of the soft palate, microcephaly, and bilateral ulnar polydactyly of hands and feet.
- While individually common, this specific combination of features is exceptionally rare in clinical practice.
Findings:
- The infant's presentation aligns with features associated with oral-facial-digital syndromes.
- The diagnostic consideration of Thurston syndrome is discussed in the context of the observed malformations.
- A literature review highlights the salient features of various oral-facial-digital syndromes, emphasizing diagnostic criteria and variability.
Implications:
- This case underscores the importance of recognizing rare combinations of congenital anomalies for accurate syndromic diagnosis.
- Such presentations necessitate a thorough evaluation for underlying genetic conditions like Thurston syndrome.
- Further research into the genetic basis and phenotypic variability of oral-facial-digital syndromes can improve clinical outcomes.
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