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

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

Research output: Contribution to journalArticle

10 Citations (Scopus)

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
Pages (from-to)825-831
Number of pages7
JournalAmerican Journal of Medical Genetics
Volume26
Issue number4
StatePublished - 1987

Fingerprint

Microcephaly
Intellectual Disability
Blepharophimosis
X-Linked Genes
Ear

ASJC Scopus subject areas

  • Genetics(clinical)
  • Neuroscience(all)
  • Neuropsychology and Physiological Psychology

Cite this

Brief clinical report : A syndrome of microcephaly, eye anomalies, short stature, and mental deficiency. / Bouwes Bavinck, J. N.; Weaver, David; Ellis, F. D.; Ward, R. E.

In: American Journal of Medical Genetics, Vol. 26, No. 4, 1987, p. 825-831.

Research output: Contribution to journalArticle

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