| Literature DB >> 9823490 |
S A Temtamy1, N A Meguid, S I Ismail, M I Ramzy.
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.Entities:
Mesh:
Year: 1998 PMID: 9823490 DOI: 10.1097/00019605-199810000-00003
Source DB: PubMed Journal: Clin Dysmorphol ISSN: 0962-8827 Impact factor: 0.816