Microcephaly, microphthalmia, congenital cataract, optic atrophy, short stature, hypotonia, severe psychomotor retardation, and cerebral malformations: a second family with micro syndrome or a new syndrome?

Citation
A. Megarbane et al., Microcephaly, microphthalmia, congenital cataract, optic atrophy, short stature, hypotonia, severe psychomotor retardation, and cerebral malformations: a second family with micro syndrome or a new syndrome?, J MED GENET, 36(8), 1999, pp. 637-640
Citations number
8
Categorie Soggetti
Research/Laboratory Medicine & Medical Tecnology","Molecular Biology & Genetics
Journal title
JOURNAL OF MEDICAL GENETICS
ISSN journal
00222593 → ACNP
Volume
36
Issue
8
Year of publication
1999
Pages
637 - 640
Database
ISI
SICI code
0022-2593(199908)36:8<637:MMCCOA>2.0.ZU;2-Q
Abstract
We report on four children of both sexes from a highly inbred family with h ypotonia, spastic diplegia, microcephaly, microphthalmia, congenital catara ct, optic atrophy, ptosis, kyphoscoliosis, short stature, severe mental ret ardation, and cerebral malformations. Six other children may also have been affected. The differential diagnosis and the possibility of a second famil y with the micro syndrome are discussed.