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

Abstract

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.

Cite this paper

@article{Mgarban1999MicrocephalyCM, title={Microcephaly, colobomatous microphthalmia, short stature, and severe psychomotor retardation in two male cousins: a new MCA/MR syndrome?}, author={Andr{\'e} M{\'e}garban{\'e} and Soha Haddad-Z{\'e}bouni and Rima Nabbout and Amir H. Khoury and Elias I. Traboulsi}, journal={American journal of medical genetics}, year={1999}, volume={83 2}, pages={82-7} }