An autosomal recessive syndrome of cleft palate, cardiac defect, genital anomalies, and ectrodactyly (CCGE).
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.
Giannotti
A
A
Department of Medical Genetics, Bambino Gesù Hospital, IRCCS, Salita S Onofrio 4, Rome, Italy.
Digilio
M C
MC
Mingarelli
R
R
Dallapiccola
B
B
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