Article
X-linked syndrome: mental retardation, hip luxation, and G6PD variant [Gd(+) Butantan].
American journal of medical genetics - 1 May 1991
dos Santos R C, Barretto O C, Nonoyama K, Castro N H, Ferraz O P, Walter-Moura J, Vescio C C, Beçak W
Abstract excerpt
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.
Topics
- Adolescent
- Adult
- Child
- Female
- Genetic Linkage
- Genetic Markers
- Genetic Variation
- Glucosephosphate Dehydrogenase
- Hip Dislocation, Congenital
- Humans
- Intellectual Disability
- Male
- Pedigree
- Syndrome
- X Chromosome