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?
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
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.