New form of postaxial acrofacial dysostosis?

Am J Med Genet

Department of Pediatrics, Chaim Sheba Medical Center, Tel-Hashomer, Israel.

Published: December 1991

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.

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http://dx.doi.org/10.1002/ajmg.1320410411DOI Listing

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