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June 1988

Cape Malay Hypospadias/Mental Retardation Syndrome

Author Affiliations

The Genetics Center Southwest Biomedical Research Institute 6401 E Thomas Rd Scottsdale, AZ 85251

Am J Dis Child. 1988;142(6):589-590. doi:10.1001/archpedi.1988.02150060023009

Sir.—The discovery of a new syndrome is always noteworthy. This is especially so when the syndrome is found first in an isolated community. A new syndrome of hypospadias, with mental retardation, is described in the November 1987 issue of AJDC.1 The excellent description is by Goldblatt et al from Cape Town, South Africa. Three brothers were affected by this syndrome, which includes microcephaly, craniofacial dysmorphism, lax joints, and beaked nails.

What gives this syndrome an extra dimension is its occurrence in the Cape Malay community, which is a social and religious isolate. More information about the Cape Malay community would be welcome, particularly with good references. References might include both general and those to genetic diseases found in the Cape Malay community. A map would help, too.

The genetic issue immediately at stake is whether this syndrome is inherited as an autosomal recessive trait or is X-linked. Occurrence

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