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Microcephaly, colobomatous microphthalmia, short stature, and severe psychomotor retardation in two male cousins: A new MCA/MR syndrome?

✍ Scribed by M�garban�, Andr�; Haddad-Zebouni, Soha; Nabbout, Rima; Khoury, Antoine H.; Traboulsi, Elias I.

Publisher: John Wiley and Sons
Year: 1999
Tongue: English
Weight: 33 KB
Volume: 83
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19990312)83:2<82::aid-ajmg2>3.0.co;2-g

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✦ Synopsis

We report on 2 male cousins with minor facial anomalies, microcephaly, colobomatous microphthalmia, psychomotor retardation, short stature, and skeletal malformations. The children belong to a highly inbred family. We conclude that these patients have a previously undescribed autosomal-recessive syndrome. Am. J. Med. Genet. 83:82-87, 1999.

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