A new oculocerebral syndrome with hypopigmentation

Harold E Cross, Victor A. McKusick, William Breen

Research output: Contribution to journalArticle

52 Citations (Scopus)

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
StatePublished - Mar 1967
Externally publishedYes

Fingerprint

Athetosis
Hypopigmentation
Inborn Genetic Diseases
Nervous System Diseases
Intellectual Disability
Parturition
Skin
Oculocerebral hypopigmentation syndrome type Preus
Surveys and Questionnaires

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Cross, H. E., McKusick, V. A., & Breen, W. (1967). A new oculocerebral syndrome with hypopigmentation. The Journal of Pediatrics, 70(3 PART 1), 398-406.

A new oculocerebral syndrome with hypopigmentation. / Cross, Harold E; McKusick, Victor A.; Breen, William.

In: The Journal of Pediatrics, Vol. 70, No. 3 PART 1, 03.1967, p. 398-406.

Research output: Contribution to journalArticle

Cross, HE, McKusick, VA & Breen, W 1967, 'A new oculocerebral syndrome with hypopigmentation', The Journal of Pediatrics, vol. 70, no. 3 PART 1, pp. 398-406.
Cross HE, McKusick VA, Breen W. A new oculocerebral syndrome with hypopigmentation. The Journal of Pediatrics. 1967 Mar;70(3 PART 1):398-406.
Cross, Harold E ; McKusick, Victor A. ; Breen, William. / A new oculocerebral syndrome with hypopigmentation. In: The Journal of Pediatrics. 1967 ; Vol. 70, No. 3 PART 1. pp. 398-406.
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