Baller-Gerold Syndrome (Craniosynostosis Radial Aplasia)
General: Autosomal recessive inheritance.
Ocular: Ocular hypertelorism; epicanthic folds.
Clinical: High nasal bridge; l 313g62d ow philtrum; dysplastic ears; radius hypoplastic or absent; ulna short and bowed; carpal bones missing or fused; thumb hypoplastic or missing; craniosynostosis; anal, urogenital, cardiac, central nervous system, and vertebral defects; agenesis of frontal and parietal bones; midline facial angioma; scrotally positioned anus; microcephaly; erythroblastosis of the liver; pancreatic islet cell hypertrophy.
Baller F. Radiuasplasie und Inzucht. Z Mensch Vererb Konstitutionsl Lehre 1950; 29:782-790.
Dallapiccola B, et al. Baller-Gerold syndrome: case report and Clinical and radiological review. Am J Med Genet 1992; 42:365-368.
Lin AE, et al. Further delineation of the Baller-Gerold syndrome. Am J Med Genet 1993; 45:519-524.
Magalini SI, Scrascia E. Dictionary of Medical Syndromes, 2nd ed.
Van Maldergem L, et al. The Baller-Gerold syndrome. J Med Genet 1992; 29:266-268.
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