A familial syndrome present from birth characterized by multiple bone abnormalities and peculiar facies. Craniofacial defects consist of midfacial hypoplasia, mandibular prognathism, mandible with wide angle, flat nasal bridge, micromaxilla, pointed chin, depressed zygomatic bones, calvarial thinning, brachycephaly, hypoplasia of the petrous bone, prominent eyebrows, malocclusion, and large ear lobes. Additional malformations include increased length, cortical thickening of the long bones and bones of the hands and feet, kyphoscoliosis., and reduced bigonial width. Also: hypertension, hyperuricemia and reduced height, Etiology unknown. Inheritance is autosomal recessive.
- L. G. Anderson, A. J. Cook, P.J. Coccaro, et al:
Journal of the American Medical Association, Chicago, 1972, 220: 1687-1693.
- L. G. Anderson, J. S. Buchignani, A. J. Cook:
Roentgenographic findings in familial osteodysplasia.
American Journal of Roentgenology, Leesburg, Virginia, 1972, 116: 602-608.