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New form of postaxial acrofacial dysostosis?
R Arens1, B Reichman, M B Katznelson
1Department of Pediatrics, Chaim Sheba Medical Center, Tel-Hashomer, Israel.
American Journal of Medical Genetics
|December 15, 1991
Abstract:
We report on a 2-month-old Sephardic Jewish girl with bilateral and symmetrical deficiency of the fifth digital rays of all 4 limbs, combined with severe deformations and other malformations of the limbs. These findings were associated with orofacial malformations, as well as with visceral anomalies differing from those found in other postaxial deficiency syndromes. Parents were closely consanguineous. We assume this patient represents a new form of postaxial acrofacial dysostosis.