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Multiple pterygium syndrome with body asymmetry
P J Willems1, C Colpaert, M Vaerenbergh
1Department of Medical Genetics, University of Antwerp-U.I.A., Belgium.
American Journal of Medical Genetics
|August 1, 1993
Summary
This study details a rare case of multiple pterygium syndrome with severe congenital anomalies, including arthrogryposis and body asymmetry, leading to neonatal death. This unique presentation expands the known spectrum of these complex genetic disorders.
Area of Science:
- Medical Genetics
- Developmental Biology
- Clinical Dysmorphology
Background:
- Multiple pterygium syndromes are a group of rare inherited disorders characterized by webbing (pterygia) in various body regions.
- These syndromes often involve multiple congenital anomalies and can have significant clinical impact.