Clinical heterogeneity of skeletal dysplasia in Roberts syndrome: a review.

Roberts syndrome is a rare autosomal recessive disorder with highly variable clinical features. The most notable manifestations include pre- and postnatal growth retardation, craniofacial anomalies and improper development of all four extremities. We reviewed 50 cases whose clinical evaluation has been vigorously pursued. A relationship of deformities exists between humerus versus femur, and radius and ulna versus tibia and fibula. Only six cases had clubfoot. The number of fingers and toes was variable. The sex ratio was 1:1. Most individuals died in early infancy, although the longest follow-up survival was 13 years in one case. Premature centromere separation, centromere splitting and puffing were common chromosomal abnormalities. An annotated bibliography on notable cases is also provided which should serve as an aid for clinicians who wish to further understand the genetic and clinical heterogeneity noted in their cases.