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

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

doi:10.1136/jmg.32.1.72

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

J Med Genet. 1995 Jan;32(1):72-4. doi: 10.1136/jmg.32.1.72.

Authors

A Giannotti¹, M C Digilio, R Mingarelli, B Dallapiccola

Affiliation

¹ Department of Medical Genetics, Bambino Gesù Hospital, IRCCS, Salita S Onofrio 4, Rome, Italy.

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.

Publication types

Case Reports

MeSH terms

Abnormalities, Multiple / pathology*
Cleft Lip
Cleft Palate
Consanguinity
Female
Foot Deformities, Congenital / pathology
Genes, Recessive
Genitalia, Male / abnormalities
Hand Deformities, Congenital / pathology
Heart Defects, Congenital
Humans
Infant, Newborn
Intellectual Disability*
Male
Syndrome