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Research Article

Sibs with Acrocephalopolydactylous Dysplasia (Elejalde Syndrome) in a Non-Consanguineous Family

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Pages 140-144 | Published online: 13 Mar 2012
 

Abstract

Acrocephalopolydactylous dysplasia, (Elejalde syndrome) is a rare condition; only six cases have been reported to date. We describe two infants born with Elejalde syndrome (ES); compare the clinical, pathological, and histological findings with those of known cases of Elejalde syndrome. The post-mortem histology study of the skin shows hyperplasia of connective tissues, a diagnostic sign in this condition. We describe cardiomegaly, cleft palate, and cryptorchidism not reported previously.

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