 |
|
Phenotypic Features of Patients With Congenital Adrenal Hypoplasia and Glycerol Kinase Deficiency
Joyce E. Wise, MD;
Reuben Matalon, MD, PhD;
Andrew M. Morgan, MD;
Edward R. B. McCabe, MD, PhD
Am J Dis Child. 1987;141(7):744-747.
Abstract
• Two unrelated boys with congenital adrenal hypoplasia and glycerol kinase deficiency were found to have similar features, including characteristic fades, testicular abnormalities, short stature, psychomotor retardation, and muscular dystrophy. The resemblance of these boys to other patients described in the literature suggests that a distinct phenotypic syndrome occurs in children with congenital adrenal hypoplasia and glycerol kinase deficiency.
(AJDC 1987;141:744-747)
Author Affiliations
From Sections of Endocrinology (Dr Wise), Genetics (Dr Matalon), and Developmental Pediatrics (Dr Morgan), Department of Pediatrics, University of Illinois College of Medicine, Peoria and Chicago; and the Institute for Molecular Genetics, Baylor College of Medicine, Houston (Dr McCabe).
Footnotes
Accepted for publication Oct 1, 1986.
Reprint requests to One Illini Dr, Box 1649, Peoria, IL 61656 (Dr Wise).
 CiteULike  Connotea  Delicious  Digg  Facebook  Reddit  Technorati  Twitter
What's this?
THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES
Isolated Glycerol Kinase Deficiency in a Neonate
Lewis et al.
J Child Neurol 1994;9:70-73.
ABSTRACT
Topical Review Article: Organic Acidurias: A Review. Part 1
Ozand and Gascon
J Child Neurol 1991;6:196-219.
ABSTRACT
|
