The G syndrome. A four-generation family study.
A male infant with hypertelorism, hypospadias, swallowing difficulties with tendency to regurgitation and cough, high arched palate, and a delicate voice, consistent with the G syndrome, is reported. In the family the same symptoms in addition to cleft lip and palate were known in several family members through four generations. In the females only slight manifestations of the syndrome were found, and in the males variable expression of symptoms was observed. Autosomal dominant inheritance is likely, but X-linked inheritance cannot be ruled out.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002675:Child, Preschool; D002904:Chromosomes, Human, 21-22 and Y; D003680:Deglutition Disorders / Q000235:genetics; D005799:Genes, Dominant; D006801:Humans; D006972:Hypertelorism / Q000235:genetics; D007021:Hypospadias / Q000235:genetics; D008297:Male; D010375:Pedigree; D012140:Respiratory Tract Diseases / Q000235:genetics; D012730:Sex Chromosomes