A familial syndrome of microcephaly, sparse hair, mental retardation, and seizures

A van Haeringen; J A Hurst; R Savidge; M Baraitser

doi:10.1136/jmg.27.2.127

A familial syndrome of microcephaly, sparse hair, mental retardation, and seizures

J Med Genet. 1990 Feb;27(2):127-9. doi: 10.1136/jmg.27.2.127.

Authors

A van Haeringen¹, J A Hurst, R Savidge, M Baraitser

Affiliation

¹ Clinical Genetics Unit, Hospital for Sick Children, London.

Abstract

A family is described in which the father and three of his seven children have microcephaly, mild to moderate mental retardation, and sparse hair. The two affected boys have generalised seizures in addition.

Publication types

Case Reports

MeSH terms

Alopecia / diagnosis
Alopecia / genetics*
Child
Child, Preschool
Female
Humans
Intellectual Disability / diagnosis
Intellectual Disability / genetics*
Male
Microcephaly / diagnosis
Microcephaly / genetics*
Pedigree
Seizures / diagnosis
Seizures / genetics*
Syndrome