Kaufman oculocerebrofacial syndrome: case report.
Am J Med Genet, 1979;3(1):15-9.
PMID: 112864
Abstract
The oculocerebrofacial syndrome was described from siblings of both sexes in 1971 by Kaufman. A 12-year-old child with a set of corresponding malformations is described. This would suggest that the original report did not describe a "private" syndrome.
MeSH terms
Dermatoglyphics; Eye Abnormalities; Face; Female; Humans; Intellectual Disability; Phenotype; Syndrome
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