Dubowitz syndrome: A cholesterol metabolism disorder?

Genetic Counseling

Volumn 19, Issue 3, 2008, Pages 287-290

  Yesilkaya E ^a   Karaer, K ^a   Bideci, A ^a   Camurdan O ^a   Perçin, E Ferda ^a   Cinaz, P ^a  

^a GAZI UNIVERSITY FACULTY OF MEDICINE   (Turkey)

Author keywords

Cholesterol metabolism disorder; Dubowitz Syndrome

Indexed keywords

CHOLESTEROL; LIPID;

ADOLESCENT; ARACHNOID CYST; ARTICLE; CASE REPORT; CHROMOSOME ANALYSIS; CONSANGUINITY; DISORDERS OF CHOLESTEROL METABOLISM; DUBOWITZ SYNDROME; FEEDING DISORDER; GESTATION PERIOD; HOSPITAL ADMISSION; HUMAN; LIPID BLOOD LEVEL; MALE; MICROCEPHALY; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOGENESIS; PHYSICAL EXAMINATION; PSYCHOMOTOR DISORDER; SHORT STATURE; TURKEY (REPUBLIC);

ABNORMALITIES, MULTIPLE; ADOLESCENT; ARACHNOID CYSTS; CHOLESTEROL; CHROMOSOME ABERRATIONS; CHROMOSOME BANDING; CONSANGUINITY; DWARFISM; FETAL GROWTH RETARDATION; GENES, RECESSIVE; HUMANS; LIPID METABOLISM, INBORN ERRORS; MALE; SYNDROME; TURKEY;

EID: 55049084393     PISSN: 10158146     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (5)

1. AHMAD A., AMALFITANO A., CHEN YT, KISHNANI P.S., MILLER C., KELLEY R.: Dubowitz syndrome: a defect in the cholesterol biosynthetic pathway? Am. J. Med. Genet., 1999, 86, 503-504.
2. BERTHOLD F., FUHRMANN W., LAMPERT F.: Fatal aplastic anaemia in a child with features of Dubowitz syndrome. Eur. J. Pediatr., 1987, 146, 605-607.
3. ILYINA H.G., LURIE I.W.: Dubowitz syndrome: possible evidence for a clinical subtype. Am. J. Med. Genet. 1990, 35, 561-565.
4. ONLINE MENDELIAN INHERITENCE IN MAN (OMIM). Dubowitz Syndrome (MIM#223370), Smith-Lemli-Opitz Syndrome (MIM#270400), Baltimore, MD, Johns Hopkins University, 2005. World Wide Web URL: http://www.ncbi.nlm.nih. gov/omim/.
5. TSUKAHARA M., OPITZ JM.: Dubowitz syndrome: review of 141 cases including 36 previously unreported patients. Am. J. Med. Genet. 1996, 63, 277-89.