A family with whistling-face-syndrome.
A family with 7 persons affected with whistling-face-syndrome in 3 successive generations is described. The clinical variability of the syndrome within one family is demonstrated by means of examining particular characteristics of four daughters in the family. Six affected persons are female; the only male carrier died in early infancy because of the severity of symptoms. The known autosomal dominant inheritance combined with clinical variability and bias towards female manifestation is present in this family.
D000293:Adolescent; D000328:Adult; D001848:Bone Diseases, Developmental / Q000235:genetics*; D002648:Child; D005260:Female; D005799:Genes, Dominant; D014644:Genetic Variation; D006801:Humans; D008875:Middle Aged; D009056:Mouth Abnormalities / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D013577:Syndrome