Tibia, Absence Or Hypoplasia Of, With Polydactyly, Retrocerebellar Arachnoid Cyst, And Other Anomalies

Clinical Features

Holmes et al. (1995) described 3 sibs, 1 female and 2 male, with absence or hypoplasia of the tibia in association with other malformations. The parents were first cousins once removed. The girl had unilateral cleft lip, absence of the diaphragm, and postaxial polydactyly of the feet. The second born was found by prenatal ultrasonography at 20 weeks of gestation to have a small cystic mass in the posterior fossa, a unilateral choroid plexus cyst, bowing of the radius and ulna, forelimb postaxial polydactyly, absence of the tibia, and a clubfoot deformity. The abnormality in the third infant was likewise recognized by prenatal ultrasonography. There was no cleft palate or polydactyly of the hands but there was preaxial polydactyly of both feet. Holmes et al. (1995) identified no abnormalities in the HOX genes studied: HOXD10 (142984), HOXA9 (142956), and HOXC9 (142971). They concluded that this represents a 'new' autosomal recessive syndrome. It should be noted that the 2 males who were investigated by the authors both showed retrocerebellar arachnoid cysts.