X-linked syndrome: mental retardation, hip luxation, and G6PD variant [Gd(+) Butantan]

R C dos Santos; O C Barretto; K Nonoyama; N H Castro; O P Ferraz; J Walter-Moura; C C Vescio; W Beçak

doi:10.1002/ajmg.1320390204

X-linked syndrome: mental retardation, hip luxation, and G6PD variant [Gd(+) Butantan]

Am J Med Genet. 1991 May 1;39(2):133-6. doi: 10.1002/ajmg.1320390204.

Authors

R C dos Santos¹, O C Barretto, K Nonoyama, N H Castro, O P Ferraz, J Walter-Moura, C C Vescio, W Beçak

Affiliation

¹ Serviço de Genética, Instituto Butantan, São Paulo, Brasil.

PMID: 2063914
DOI: 10.1002/ajmg.1320390204

Abstract

An apparently new X-linked syndrome is presented. It occurred in four male first cousins. The main manifestations of this syndrome are severe mental retardation, bilateral congenital hip luxation, and short stature. Three of the affected males showed a new glucose-6-phosphate dehydrogenase variant.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adolescent
Adult
Child
Female
Genetic Linkage
Genetic Markers
Genetic Variation
Glucosephosphate Dehydrogenase / genetics*
Hip Dislocation, Congenital / genetics*
Humans
Intellectual Disability / genetics*
Male
Pedigree
Syndrome
X Chromosome*

Substances

Genetic Markers
Glucosephosphate Dehydrogenase