[Multiple pterygium syndrome in children. 7 cases]

Abstract

Seven children have been observed and treated for a multiple pterygia syndrome. The characteristics of this affection which is rare and mostly transmitted as an autosomal recessive, are: a growth retardation, a facial dysmorphia, pterygia resulting in flexion deformities, and anomalies of hands, feet and external genitale. But the severity of the syndrome is linked with the spine malformation, whose fusions produce severe and precocious deformities. This syndrome must be differentiated from the popliteal pterygium syndrome, whose repercussions are only functional; from the arthrogryposis multiplex congenita, whose syndrome is already complete at birth; and from the false secondary pterygia (caudal spinal agenesis, campomelic syndrome, quadriceps hypoplasia). The multiple pterygia syndrome imposes a genetic investigation and a serious observation of the spine and of the evolutive flexion deformities.