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Popliteal pterygium syndrome: a rare entity
Muhammad Qasim1, Mahmood Shaukat
1Department of Paediatric Surgery, Mayo Hospital Lahore, Pakistan.
APSP Journal of Case Reports
|September 7, 2012
Summary
Popliteal pterygium syndrome, a rare genetic disorder, causes orofacial, musculoskeletal, and genitourinary issues. This report details a family affected by this condition, highlighting surgical interventions for congenital malformations.
Area of Science:
- Genetics
- Developmental Biology
- Clinical Medicine
Background:
- Popliteal pterygium syndrome is a rare, autosomal dominant congenital disorder.
- Characterized by orofacial, musculoskeletal, and genitourinary anomalies.
- Genetic basis and phenotypic variability are key research areas.
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