A new oculocerebral syndrome with hypopigmentation

Harold E. Cross, Victor A. McKusick, William Breen

Research output: Contribution to journalArticlepeer-review

52 Scopus citations

Abstract

During the course of a survey for neurologic disorders in a genetic isolate, three sibs with an unusual oculocerebral syndrome were found. The syndrome is manifest at birth by cutaneous hypopigmentation and severe ocular anomalies. Spasticity, mental retardation, and athetoid movements become apparent at several months of age. Genetic evidence suggests autosomal recessive inheritance. Since no cases have been reported with a similar combination of findings, this family is believed to represent a "new" genetic disorder.

Original languageEnglish (US)
Pages (from-to)398-406
Number of pages9
JournalThe Journal of Pediatrics
Volume70
Issue number3 PART 1
DOIs
StatePublished - Mar 1967

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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