The Baller-Gerold syndrome.

AUTOR(ES)

Van Maldergem, L

RESUMO

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.

Documentos Relacionados

• The Baller-Gerold syndrome: phenotypic and cytogenetic overlap with Roberts syndrome.
• Baller-Gerold syndrome associated with congenital portal venous malformation.
• Normal growth and development in a child with Baller-Gerold syndrome (craniosynostosis and radial aplasia).
• The Gordon syndrome.
• The hypermobility syndrome.