Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction

Frydman et al. (1993) described a male infant, born of first-cousin parents, with omphalocele, prune belly, thoracolumbar scoliosis, anal atresia, urethral obstruction with hypertrophic urinary bladder, dilated ureters, and dysplastic and hypoplastic kidneys. The proband's mother and all 3 of his sisters had cervical ribs. One sister had chronic immune thrombocytopenia (CIT), Sprengel deformity, and a clubfoot. Another sister had preaxial polydactyly and CIT. Frydman et al. (1993) proposed that all of these abnormalities were different manifestations of the same syndrome with varying expressivity in males and females (or in homo- and heterozygotes).