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J Med Genet. Apr 1992; 29(4): 266–268.
PMCID: PMC1015930
The Baller-Gerold syndrome.
L Van Maldergem, A Verloes, L Lejeune, and Y Gillerot
Centre de Génétique Humaine, Institut de Morphologie Pathologique, Gerpinnes (Loverval), Belgium.
Abstract
A case of severe craniosynostosis-radial aplasia (Baller-Gerold) syndrome is described in a newborn male, following a pregnancy complicated by polyhydramnios and intrauterine growth retardation. Death occurred after two hours owing to a prolonged apnoeic spell. Extensive agenesis of the frontal and parietal bones, resulting in a very large fontanelle, in addition to coronal bilateral craniosynostosis was observed at necropsy. There was also bilateral radial agenesis, oligodactyly of the hands and feet, a midline facial angioma, and a scrotally positioned anus, all of which have been described in some of the 10 previously reported cases. Microcephaly, erythroblastosis of the liver, and pancreatic islet cell hypertrophy were also noted.
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