title: An autosomal recessive syndrome of cleft palate, cardiac defect, genital anomalies, and ectrodactyly (CCGE).
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.
authors.affiliation: Department of Medical Genetics, Bambino Gesù Hospital, IRCCS, Salita S Onofrio 4, Rome, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Giannotti
authors.forename: M C
authors.initials: MC
authors.lastname: Digilio
authors.forename: R
authors.initials: R
authors.lastname: Mingarelli
authors.forename: B
authors.initials: B
authors.lastname: Dallapiccola
mesh_terms: D000015:Abnormalities, Multiple / Q000473:pathology*; D002971:Cleft Lip; D002972:Cleft Palate; D003241:Consanguinity; D005260:Female; D005532:Foot Deformities, Congenital / Q000473:pathology; D005808:Genes, Recessive; D005837:Genitalia, Male / Q000002:abnormalities; D006228:Hand Deformities, Congenital / Q000473:pathology; D006330:Heart Defects, Congenital; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability; D008297:Male; D013577:Syndrome