Philip N, Garcia-Meric P, Wernert F
Service de pédiatrie et génétique médicale, Hôpital d'Enfants de La Timone, Marseille, France.
Pediatrie. 1988;43(7):609-12.
A new case of congenital contracture arachnodactyly (CCA) revealed in the neonatal period is reported. CCA is a dominantly inherited syndrome associating arachnodactyly, kyphoscoliosis, multiple congenital joint contractures and crumpled ears. This condition differs from Marfan's syndrome by the usual absence of visceral involvement, although cardiac complications are possible. The neonatal forms result from new mutations are are generally severe.
本文报道了1例新生儿期发现的先天性挛缩性蜘蛛指(CCA)新病例。CCA是一种显性遗传综合征,伴有蜘蛛指、脊柱侧凸、多发性先天性关节挛缩和皱缩耳。这种疾病与马凡综合征不同,通常无内脏受累,但可能有心脏并发症。新生儿型由新突变引起,通常病情严重。