A new oculocerebral syndrome with hypopigmentation

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

doi:10.1016/s0022-3476(67)80137-9

A new oculocerebral syndrome with hypopigmentation

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

Research output: Contribution to journal › Article › peer-review

66 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 language	English (US)
Pages (from-to)	398-406
Number of pages	9
Journal	The Journal of Pediatrics
Volume	70
Issue number	3 PART 1
DOIs	https://doi.org/10.1016/s0022-3476(67)80137-9
State	Published - Mar 1967
Externally published	Yes

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health

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10.1016/s0022-3476(67)80137-9

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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.",

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year = "1967",

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AU - Cross, Harold E.

AU - McKusick, Victor A.

AU - Breen, William

PY - 1967/3

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N2 - 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.

AB - 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.

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JO - The Journal of Pediatrics

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IS - 3 PART 1

ER -

A new oculocerebral syndrome with hypopigmentation

Abstract

ASJC Scopus subject areas

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