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Roberts syndrome or "X-linked amelia"?
R Gershoni-Baruch1, A Drugan, M Bronshtein
1Department of Pediatrics, Rambam Medical Center, Haifa, Israel.
American Journal of Medical Genetics
|December 1, 1990
Summary
A rare genetic disorder characterized by tetra-amelia and facial anomalies was observed in seven male infants. The study suggests potential links to Roberts syndrome or a novel X-linked amelia syndrome.
Area of Science:
- Medical Genetics
- Human Teratology
- Pediatric Syndromes
Background:
- A rare congenital disorder affecting multiple male infants within a single Arab Moslem kindred.
- Affected individuals exhibit tetra-amelia, facial clefts, ear and nose malformations, and atresia ani.