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Congenital adrenal hypoplasia, progressive muscular dystrophy, and severe mental retardation, in association with glycerol kinase deficiency, in male sibs
Author(s) -
Renier W. O.,
Nabben F. A. E.,
Hustinx T. W. J.,
Veerkamp J. H.,
Otten B. J.,
Laak H. J. Ter,
Haar B. G. A. Ter,
Gabreëls F. J. M.
Publication year - 1983
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1983.tb00078.x
Subject(s) - hypoplasia , medicine , muscular dystrophy , endocrinology , duchenne muscular dystrophy , glycerol kinase , disease , dystrophy , growth retardation , pediatrics , biology , genetics , pathology , pregnancy , gene
2 Department of Pediatrics, Groot Ziekengasthuis, 's Hertogenbosch, The Netherlands 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 this exceptional family are reported and discussed.