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Congenital adrenal hypoplasia, progressive muscular dystrophy, and severe mental retardation, in association with glycerol kinase deficiency, in male sibs.
- Source :
-
Clinical genetics [Clin Genet] 1983 Oct; Vol. 24 (4), pp. 243-51. - Publication Year :
- 1983
-
Abstract
- A family is described with three male sibs suffering from congenital adrenal hypoplasia (CAH). In the two surviving brothers the disease is clinically further characterized by a Duchenne type muscular dystrophy, growth failure and severe mental retardation. Laboratory investigations revealed deficient activities of gonadotrophin and glycerol kinase. The clinical, biochemical and genetic findings in ths exceptional family are reported and discussed.
- Subjects :
- Adrenal Hyperplasia, Congenital complications
Female
Genetic Linkage
Growth Disorders genetics
Humans
Infant, Newborn
Intellectual Disability complications
Male
Muscular Dystrophies complications
Pedigree
X Chromosome
Adrenal Hyperplasia, Congenital genetics
Glycerol Kinase deficiency
Intellectual Disability genetics
Muscular Dystrophies genetics
Phosphotransferases deficiency
Subjects
Details
- Language :
- English
- ISSN :
- 0009-9163
- Volume :
- 24
- Issue :
- 4
- Database :
- MEDLINE
- Journal :
- Clinical genetics
- Publication Type :
- Academic Journal
- Accession number :
- 6315281
- Full Text :
- https://doi.org/10.1111/j.1399-0004.1983.tb00078.x