Ioan D M, Fryns J P
Department of Medical Genetics, Institute of Endocrinology, Bucharest, Roumania.
Genet Couns. 2002;13(3):353-6.
We report on two siblings: the index patient, a 9 months old boy and his 2.5 years old sister, both presenting the main clinical signs and symptoms of Costello syndrome (CS): severe mental and motor retardation, feeding difficulties, failure to thrive in the first months of life, coarse facial appearance, skin hyperlaxity and skeletal deformities. Their mother presented with mild to moderate mental retardation, short stature, facial fullness and wart-like lesions on her face. The present observation confirms previous data on the apparent autosomal dominant pattern of inheritance in Costello syndrome with variable expression.
索引患者，一名9个月大的男孩及其2.5岁的妹妹，两人均表现出科斯特洛综合征（CS）的主要临床体征和症状：严重的智力和运动发育迟缓、喂养困难、出生后头几个月生长发育不良、面容粗糙、皮肤过度松弛和骨骼畸形。他们的母亲表现为轻度至中度智力发育迟缓、身材矮小、面部丰满以及面部有疣状病变。本观察结果证实了先前关于科斯特洛综合征呈常染色体显性遗传模式且表现可变的相关数据。
