Dubowitz syndrome: a cholesterol metabolism disorder?
Dubowitz syndrome (DS) (MIM#223370) (4) is a very rare genetic and developmental disorder involving multiple congenital anomalies including: 1) growth failure/short stature; 2) unusual but characteristic facial features; small triangular face, high sloping forehead, ptosis, short palpebral fissures, broad and flat nasal bridge; 3) microcephaly; 4) mild mental retardation; and 5) in at least 50% of the cases, eczema. Multiple organ systems are affected and the disorder is unpredictable and extremely variable in its expression. Here we describe a male Turkish patient who has typical and less common findings of DS with additionally persistently low serum lipid levels and an arachnoid cyst. The present patient is the second case of DS with persistently low cholesterol levels.
Yeşilkaya
E
E
Department of Pediatric Endocrinology, Gazi University School of Medicine, Ankara 06500, Turkey.
Karaer
K
K
Bideci
A
A
Camurdan
O
O
Perçin
E F
EF
Cinaz
P
P
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D016080:Arachnoid Cysts / Q000175:diagnosis / Q000235:genetics*; D002784:Cholesterol / Q000097:blood*; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D003241:Consanguinity; D004392:Dwarfism / Q000175:diagnosis / Q000235:genetics*; D005317:Fetal Growth Retardation / Q000175:diagnosis / Q000235:genetics*; D005808:Genes, Recessive / Q000235:genetics*; D006801:Humans; D008052:Lipid Metabolism, Inborn Errors / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D013577:Syndrome; D014421:Turkey
D002784:Cholesterol