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Japanese

On Cornelia de Lange Syndrome;Report of Four Cases Kenji Ito 1 , Akiko Adachi 1 1Department of Ophthalmology, Keio University, School of Medicine pp.341-347
Published Date 1969/3/15
DOI https://doi.org/10.11477/mf.1410204039
  • Abstract
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A description is given of the occurrence of Cornelia de Lange syndrome (Typus Amstero-damensis) in four sporadic cases ( 3 females and 1 male). All of the the present 4 cases were characterized by microcephaly, short extre mities, retardation of psychosomatic develop-ment and peculiar mewing when crying as well as synophris, lang cilia and the small nose di-rected upwards. Three of the four cases were premature babies measuring between 2,000 and 2,200 grams. Pallor of the optic disc suggestive of optic atrophy was noted in 3 cases. No de-finite laboratory abnormality was confirmed.


Copyright © 1969, Igaku-Shoin Ltd. All rights reserved.

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電子版ISSN 1882-1308 印刷版ISSN 0370-5579 医学書院

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