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A syndrome of microcephaly, eye anomalies, short stature, and mental deficiency

✍ Scribed by Bavinck, Jan N. Bouwes ;Weaver, David D. ;Ellis, Forrest D. ;Ward, Richard E. ;Opitz, John M. ;Reynolds, James F.

Publisher: John Wiley and Sons
Year: 1987
Tongue: English
Weight: 406 KB
Volume: 26
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320260409

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✦ Synopsis

We have studied a mother and son with a previously apparently undescribed syndrome of microcephaly, eye defects, small ears, mild mental deficiency, and short stature. The syndrome appears to be an autosomal or X-linked dominant trait. The cat eye syndrome, blepharophimosis or Kohn-Romano syndrome, Rieger syndrome, and other disorders are discussed in relationship to this entity.

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