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

Am J Med Genet. 1987 Apr;26(4):825-31. doi: 10.1002/ajmg.1320260409.


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.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / physiopathology
  • Eye / physiopathology
  • Eye Abnormalities*
  • Female
  • Growth Disorders / genetics
  • Humans
  • Intellectual Disability / genetics*
  • Male
  • Microcephaly / genetics*
  • Microcephaly / physiopathology
  • Syndrome