A syndrome of microcephaly, eye anomalies, short stature, and mental deficiency.
作者信息
Bouwes Bavinck J N, Weaver D D, Ellis F D, Ward R E
出版信息
Am J Med Genet. 1987 Apr;26(4):825-31. doi: 10.1002/ajmg.1320260409.
PMID:3109242
Abstract
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.
摘要
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