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

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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.