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Elejalde syndrome--a case report
Eva Silhánová1, Pavlína Plevová, Romuald Curík
1Department of Medical Genetics, Faculty Hospital, Ostrava, Czech Republic.
Abstract:
Elejalde syndrome (McKusick 200995), also known as acrocephalopolydactylous dysplasia, is a rare condition. We describe a sixth patient with this syndrome which is characterized by craniosynostosis and hyperproliferation of fibroblasts in many tissues including skin, liver, kidney, and pancreas. The cause of the syndrome is the homozygous state of an autosomal recessive mutation. We present a hypothesis that Elejalde syndrome might be associated with an inactivating FGFR gene mutation.
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