DUBOWITZ SYNDROME: A CHOLESTEROL METABOLISM DISORDER?

Yesilkaya E., Karaer K., Bideci A., Camurdan O., PERÇİN F. E., Cinaz P.

GENETIC COUNSELING, cilt.19, sa.3, ss.287-290, 2008 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 19 Sayı: 3
  • Basım Tarihi: 2008
  • Dergi Adı: GENETIC COUNSELING
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED)
  • Sayfa Sayıları: ss.287-290
  • Anahtar Kelimeler: Dubowitz Syndrome, Cholesterol metabolism disorder
  • Gazi Üniversitesi Adresli: Evet

Özet

Dubowitz syndrome: a cholesterol metabolism disorder?: Dubowitz sydrome (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.