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Clin Dysmorphol. 1998 Oct;7(4):249-55.

A new multiple congenital anomaly, mental retardation syndrome with preaxial brachydactyly, hyperphalangism, deafness and orodental anomalies.

Author information

1
Department of Human Genetics, National Research Center, El-Dokki, Cairo, Egypt. Stemtamy@intouch.com

Abstract

We report on a child with a 'new' syndrome characterized by multiple congenital anomalies, mental retardation, sensorineural deafness, talon cusps of upper central incisors, growth retardation, bilateral symmetrical digital anomalies mainly in the form of preaxial brachydactyly and hyperphalangism of digits I-III. Because he had a similarly affected brother and his parents were cousins we suggest autosomal recessive inheritance, X-linked recessive inheritance cannot be excluded. Differential diagnosis from other syndromes with preaxial brachydactyly and hyperphalangism is presented.

PMID:
9823490
[Indexed for MEDLINE]

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