SMITH-LEMLI-OPITZ SYNDROME - BIOCHEMICAL BEFORE CLINICAL-DIAGNOSIS - EARLY DIETARY-MANAGEMENT

Authors
NWOKORO NA HYDE B MULVIHILL JJ
Citation
Na. Nwokoro et al., SMITH-LEMLI-OPITZ SYNDROME - BIOCHEMICAL BEFORE CLINICAL-DIAGNOSIS - EARLY DIETARY-MANAGEMENT, American journal of medical genetics, 50(4), 1994, pp. 375-376
Citations number
4
Categorie Soggetti
Genetics & Heredity
Journal title
American journal of medical genetics → ACNP
ISSN journal
01487299
Volume
50
Issue
4
Year of publication
1994
Pages
375 - 376
Database
ISI
SICI code
0148-7299(1994)50:4<375:SS-BBC>2.0.ZU;2-K
Abstract
Pursuit of a possible metabolic basis for an unrecognized pattern of m ultiple congenital anomalies in a newborn girl led to the detection of a huge elevation of plasma 7-dehydrocholesterol at age 8 months. The biochemical findings and the evolving clinical picture led to the diag nosis of Smith-Lemli-Opitz syndrome at age 11 months. High cholesterol diet may have improved the rate of developmental progress. (C) 1994 W iley-Liss, Inc.