Short report
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 Mégarbanéa, R Choueirib, J Bleikc, M Mezzinad, C Caillaude
a Unité
de Génétique Médicale, Faculté de Médecine, Université
Saint-Joseph, Beirut, Lebanon, b Department of Pediatrics, American University
Hospital, Beirut, Lebanon, c Service d'Ophtalmologie, Hôpital Rizk,
Beirut, Lebanon, d URA 1923 CNRS, Genethon III, Evry, France, e Biochimie Génétique, Hôpital Cochin,
Paris, France
Correspondence to: Dr Mégarbané, Unité de Génétique Médicale, Faculté de Médecine, Université Saint-Joseph, 42 rue de Grenelle, 75007 Paris, France.
Received 4
August 1998;
Revised version accepted for publication 24 March
1999
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.
Keywords: autosomal recessive; cataract; consanguinity; mental retardation
© 1999 by J Med Genet
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