RT Journal Article
SR Electronic
T1 An autosomal recessive syndrome of cleft palate, cardiac defect, genital anomalies, and ectrodactyly (CCGE).
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 72
OP 74
DO 10.1136/jmg.32.1.72
VO 32
IS 1
A1 A Giannotti
A1 M C Digilio
A1 R Mingarelli
A1 B Dallapiccola
YR 1995
UL http://jmg.bmj.com/content/32/1/72.abstract
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.