| Literature DB >> 1583650 |
L Van Maldergem1, A Verloes, L Lejeune, Y Gillerot.
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.Entities:
Mesh:
Year: 1992 PMID: 1583650 PMCID: PMC1015930 DOI: 10.1136/jmg.29.4.266
Source DB: PubMed Journal: J Med Genet ISSN: 0022-2593 Impact factor: 6.318