Dislocation Of Hip, Congenital, With Hyperextensibility Of Fingers And Facial Dysmorphism

Collins et al. (1995) described a woman with congenital dislocation of the hips, epicanthus, flat face, and slight joint laxity. Her growth was normal. Her 3 daughters were relatively short and had congenital dislocation of the hips, hyperextensibility of joints, and characteristic facial appearance (flat face with broad nasal bridge, wide-set eyes, and puffy appearance around the eyes). Two of the girls had congenital heart disease (atrial septal defect in one, and patent ductus arteriosus (see 607411) and patent foramen ovale in the other). One of the girls had congenital dislocation of the knee, and another had vesicoureteric reflux and inguinal hernia. Hyperextensibility of joints and inguinal hernia were observed in the girls' father. Clinical examination excluded Larsen syndrome (150250, 245600). Electron microscopic study of collagen excluded Ehlers-Danlos syndrome, type VII (130060, 225410). Collins et al. (1995) proposed that a previously undescribed autosomal dominant syndrome segregates in this family.