Asymmetric Short Stature Syndrome

Jung and Smith (1980) described mother and daughter with asymmetric short stature associated with craniofacial, ocular, and skeletal anomalies. The mother was 132 cm tall; the daughter was 82 cm tall at 3.5 years of age (-4 SD). Both showed mild frontal bossing, small almost beaked nose, mandibular hypoplasia with dental crowding, esotropia, and hyperopia. The right leg was shorter than the left with pelvic tilt and lumbar scoliosis. Fusion and atypicality of cervical vertebrae, carpal bones and ribs were shown in the mother by radiographs. Intelligence was normal. This was the mother's only pregnancy; there was no increased incidence of abortion to suggest X-linked dominance with lethality in the hemizygous male. The disorder could be confused with Russell-Silver syndrome (180860) or Hallermann-Streiff syndrome (234100). Asymmetric short stature and facial anomalies including small nose occur also with chondrodysplasia punctata (118650).