Madhukara J, Kumaran M Sendhil
Department of Dermatology, St John's Medical College Hospital, Sarjapur Road, Bangalore, Karnataka, India.
Indian J Dermatol Venereol Leprol. 2007 Nov-Dec;73(6):406-8. doi: 10.4103/0378-6323.37059.
Costello syndrome is a rare, distinctive, multiple congenital anomaly syndrome, characterized by soft, loose skin with deep palmar and plantar creases, loose joints, distinctive coarse facial features and skeletal and cardiac abnormalities. The affected patients have a predisposition to develop malignancy, developmental delays and mental retardation. Recently, a 7-year-old male child born to normal nonconsanguineous parents presented to us with abnormal facial features, arrhythmia, mitral valve dysfunction and growth retardation. His cutaneous examination revealed lax and pigmented skin over hands and feet with deep creases, acanthosis nigricans and short curly hairs. Its differentiation from other syndromes with similar clinical features is discussed in this article.
科斯特洛综合征是一种罕见的、独特的多发性先天性异常综合征，其特征为皮肤柔软、松弛，手掌和足底有深褶痕，关节松弛，面部特征独特粗糙，以及骨骼和心脏异常。受影响的患者易患恶性肿瘤、发育迟缓及智力障碍。最近，一名7岁男性儿童，其父母为非近亲婚配的正常人，前来我院就诊，表现为面部特征异常、心律失常、二尖瓣功能障碍及生长发育迟缓。他的皮肤检查显示手脚皮肤松弛、色素沉着，有深褶痕、黑棘皮病及短卷发。本文讨论了该病与其他具有相似临床特征的综合征的鉴别诊断。
