An autosomal recessive syndrome of cleft palate, cardiac defect, genital anomalies, and ectrodactyly (CCGE)

A. Giannotti; M. C. Digilio; R. Mingarelli; B. Dallapiccola

An autosomal recessive syndrome of cleft palate, cardiac defect, genital anomalies, and ectrodactyly (CCGE)

A. Giannotti, M. C. Digilio, R. Mingarelli, B. Dallapiccola

Ospedale Pediatrico Bambino Gesu

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

Abstract

We report a brother and sister affected by a constellation of malformations, including cleft palate, cardiac defect, genital anomalies, and ectrodactyly (CCGE). A similar association has been reported previously by Richieri-Costa and Orquizas in a male patient born to consanguineous parents. An autosomal recessive pattern of inheritance is proposed for this syndrome.

Original language	English
Pages (from-to)	72-74
Number of pages	3
Journal	Journal of Medical Genetics
Volume	32
Issue number	1
Publication status	Published - 1995

ASJC Scopus subject areas

Genetics
Genetics(clinical)

Cite this

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AU - Dallapiccola, B.

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AB - We report a brother and sister affected by a constellation of malformations, including cleft palate, cardiac defect, genital anomalies, and ectrodactyly (CCGE). A similar association has been reported previously by Richieri-Costa and Orquizas in a male patient born to consanguineous parents. An autosomal recessive pattern of inheritance is proposed for this syndrome.

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An autosomal recessive syndrome of cleft palate, cardiac defect, genital anomalies, and ectrodactyly (CCGE)

Abstract

ASJC Scopus subject areas

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