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  • 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?

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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?
  1. A Mégarbanéa,
  2. R Choueirib,
  3. J Bleikc,
  4. M Mezzinad,
  5. C Caillaude
  1. aUnité de Génétique Médicale, Faculté de Médecine, Université Saint-Joseph, Beirut, Lebanon, bDepartment of Pediatrics, American University Hospital, Beirut, Lebanon, cService d’Ophtalmologie, Hôpital Rizk, Beirut, Lebanon, dURA 1923 CNRS, Genethon III, Evry, France, eBiochimie Génétique, Hôpital Cochin, Paris, France
  1. Dr Mégarbané, Unité de Génétique Médicale, Faculté de Médecine, Université Saint-Joseph, 42 rue de Grenelle, 75007 Paris, France.

Abstract

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.

  • autosomal recessive
  • cataract
  • consanguinity
  • mental retardation

https://doi.org/10.1136/jmg.36.8.637

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