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?
作者： A Mégarbané , C Caillaud , M Mezzina , J Bleik , R Choueiri
DOI: 10.1136/JMG.36.8.637
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摘要: 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 may also have been affected. The differential diagnosis the possibility second micro syndrome are discussed.
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