Brief clinical report: A syndrome of microcephaly, eye anomalies, short stature, and mental deficiency

J. N. Bouwes Bavinck, D. D. Weaver, F. D. Ellis, R. E. Ward

Research output: Contribution to journalArticle

10 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)825-831
Number of pages7
JournalAmerican Journal of Medical Genetics
Volume26
Issue number4
DOIs
StatePublished - Jan 1 1987

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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