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Elejalde syndrome--a case report.

Eva Silhánová·Pavlína Plevová·Romuald Curík·Ivo Kaspercík·Anna Krepelová
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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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Abnormalities, MultipleCraniosynostosesFemaleHumansInfant, NewbornKidneyLiverPancreasRadiographySkinSyndromeCase ReportsJournal ArticleResearch Support, Non-U.S. Gov't

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Eva Silhánová, Pavlína Plevová, Romuald Curík, Ivo Kaspercík, Anna Krepelová. 2006-10-15. Elejalde syndrome--a case report.. https://doi.org/10.1002/ajmg.a.31419

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