van Eeghen A M, van Gelderen I, Hennekam R C
Emma Kinderziekenhuis AMC, Department of Pediatrics, University of Amsterdam, The Netherlands.
Am J Med Genet. 1999 Jan 15;82(2):187-93. doi: 10.1002/(sici)1096-8628(19990115)82:2<187::aid-ajmg17>3.0.co;2-2.
We describe a 34-year-old woman with mental retardation, short stature, macrocephaly, a "coarse" face, hoarse voice, and redundant skin with deep palmar and plantar creases who had evident Costello syndrome. Lacking papillomata, she had wart-like lesions of the skin. The previously reported patients with Costello syndrome are reviewed. Costello syndrome is probably an autosomal dominant disorder, either caused by a mutation in a single gene or by microdeletion.
我们描述了一名34岁患有科斯特洛综合征的女性，她有智力障碍、身材矮小、巨头畸形、面容“粗糙”、声音嘶哑以及手掌和足底有深深褶皱的多余皮肤。她没有乳头状瘤，但有皮肤疣状病变。我们回顾了之前报道的科斯特洛综合征患者。科斯特洛综合征可能是一种常染色体显性疾病，由单个基因突变或微缺失引起。
