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?
We report on four children of both sexes from a highly inbred family with hypotonia, spastic diplegia, microcephaly, microphthalmia, congenital cataract, optic atrophy, ptosis, kyphoscoliosis, short stature, severe mental retardation, and cerebral malformations. Six other children may also have been affected. The differential diagnosis and the possibility of a second family with the micro syndrome are discussed.
Mégarbané
A
A
Unité de Génétique Médicale, Faculté de Médecine, Université Saint-Joseph, Beirut, Lebanon.
Choueiri
R
R
Bleik
J
J
Mezzina
M
M
Caillaud
C
C
D000015:Abnormalities, Multiple; D001921:Brain / Q000473:pathology; D002386:Cataract / Q000151:congenital / Q000235:genetics / Q000473:pathology; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics / Q000473:pathology; D008279:Magnetic Resonance Imaging; D008297:Male; D008831:Microcephaly / Q000235:genetics / Q000473:pathology; D009896:Optic Atrophy / Q000151:congenital / Q000235:genetics / Q000473:pathology; D010375:Pedigree; D011247:Pregnancy; D013577:Syndrome