Information de reference pour ce titreAccession Number: | 00005005-199908000-00011.
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Author: | Megarbane, A; Choueiri, R; Bleik, J; Mezzina, M; Caillaud, C
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Institution: | Unite de Genetique Medicale, Faculte de Medecine, Universite Saint-Joseph, Beirut, Lebanon A Megarbane Department of Pediatrics, American University Hospital, Beirut, Lebanon R Choueiri Service d'Ophtalmologie, Hopital Rizk, Beirut, Lebanon J Bleik URA 1923 CNRS, Genethon III, Evry, France M Mezzina Biochimie Genetique, Hopital Cochin, Paris, France C Caillaud Correspondence to: Dr Megarbane, Unite de Genetique Medicale, Faculte de Medecine, Universite Saint-Joseph, 42 rue de Grenelle, 75007 Paris, France. Received 4 August 1998 Revised version accepted for publication 24 March 1999
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Title: | 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?[Report]
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Source: | Journal of Medical Genetics. 36(8):637-640, August 1999.
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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.
(J Med Genet 1999;36:637-640)
Copyright (C) 1999 by Journal of Medical Genetics.
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References: | 1. Warburg M. Classification of microphthalmos and coloboma. J Med Genet 1993;30:664-9.
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Language: | English.
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Document Type: | Short Reports.
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Journal Subset: | Clinical Medicine. Life Sciences.
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ISSN: | 0022-2593
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NLM Journal Code: | j1f, 2985087r
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