Yeşilkaya E, Karaer K, Bideci A, Camurdan O, Perçin E F, Cinaz P
Department of Pediatric Endocrinology, Gazi University School of Medicine, Ankara 06500, Turkey.
Genet Couns. 2008;19(3):287-90.
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.
杜波维茨综合征（DS）（MIM#223370）（4）是一种非常罕见的遗传性发育障碍，涉及多种先天性异常，包括：1）生长发育迟缓/身材矮小；2）不寻常但具有特征性的面部特征；小三角形脸、高额斜度、上睑下垂、睑裂短、鼻梁宽平；3）小头畸形；4）轻度智力障碍；5）至少50%的病例有湿疹。多个器官系统受到影响，该疾病表现不可预测且极其多变。在此，我们描述一名土耳其男性患者，他具有典型且较少见的杜波维茨综合征表现，此外还有持续低血脂水平和一个蛛网膜囊肿。本患者是第二例患有持续低胆固醇水平的杜波维茨综合征病例。
