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.
Abnormalities, MultipleCleft LipCleft PalateConsanguinityFemaleFoot Deformities, CongenitalGenes, RecessiveGenitalia, MaleHand Deformities, CongenitalHeart Defects, CongenitalHumansInfant, NewbornIntellectual DisabilityMaleSyndrome