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- Title
Genetics Corner: A Consultation for Familial Polysyndactyly.
- Authors
Ramanathan, Subhadra; Clark, Robin D.
- Abstract
The article focuses on a 7-month-old female with preaxial polydactyly and syndactyly in both hands and feet, alongside a positive family history of similar conditions in her father, indicating a potential genetic syndrome. Topics include the clinical examination findings, imaging studies revealing specific skeletal anomalies, and the genetic testing confirming Greig cephalopolysyndactyly syndrome (GCPS) due to a pathogenic variant in the GLI3 gene, inherited in an autosomal dominant manner.
- Subjects
FINGER abnormalities; ACROCEPHALOSYNDACTYLIA type II; HAND abnormalities; FOOT abnormalities; FAMILY history (Medicine); GENETIC variation; SYNDACTYLY; X-rays; CRANIOFACIAL abnormalities; GENETIC mutation; GENETICS; GENETIC testing
- Publication
Neonatology Today, 2024, Vol 19, Issue 6, p171
- ISSN
1932-7129
- Publication type
Article