This Article  • References  • Full text PDF  • Send to a friend  • Save in My Folder  • Save to citation manager  • Permissions  Citing Articles  • Citation map  • Citing articles on HighWire  • Contact me when this article is cited  Related Content  • Similar articles in this journal  Social Bookmarking   What's this?

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    Del.icio.us    Digg    Reddit    Technorati    Twitter     What's this?

THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES

IMAGe, a New Clinical Association of Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies
J. Clin. Endocrinol. Metab. 1999;84:4335-4340.
ABSTRACT | FULL TEXT  

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