Sibs with acrocephalopolydactylous dysplasia (Elejalde Syndrome) in a non-consanguineous family

Charles O. Onyeama; Michael Lotke; Dennis Vickers; Terence Harper

doi:10.3109/15513815.2012.656828

Sibs with acrocephalopolydactylous dysplasia (Elejalde Syndrome) in a non-consanguineous family

Charles O. Onyeama^*, Michael Lotke, Dennis Vickers, Terence Harper

^*Corresponding author for this work

Pediatrics

Research output: Contribution to journal › Article › peer-review

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.

Original language	English (US)
Pages (from-to)	140-144
Number of pages	5
Journal	Fetal and Pediatric Pathology
Volume	31
Issue number	3
DOIs	https://doi.org/10.3109/15513815.2012.656828
State	Published - Jun 2012

Keywords

Acrocephalopolydactylous dysplasia
Elejalde syndrome (ES)
Multiple congenital anomalies

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health
Pathology and Forensic Medicine

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10.3109/15513815.2012.656828

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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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AU - Lotke, Michael

AU - Vickers, Dennis

AU - Harper, Terence

PY - 2012/6

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AB - 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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KW - Elejalde syndrome (ES)

KW - Multiple congenital anomalies

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Sibs with acrocephalopolydactylous dysplasia (Elejalde Syndrome) in a non-consanguineous family

Abstract

Keywords

ASJC Scopus subject areas

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