Autosomal recessive type of whistling face syndrome in twins.
A report of concordant monochorionic, diamnionic like-sex twins with whistling face syndrome is presented. The diagnosis was based on the characteristic facies with prominent supraorbital ridge, sunken eyes, telacanthus, short nose and colobomata of the nostrils, long philtrum, high narrow palate, and marked microstomia with puckered lips and an "H"-shaped cutaneous dimpling on the chin. The hands showed symmetrically clenched fingers with camptodactyly and ulnar deviation. The feet demonstrated mild bilateral talipes equinovarus. HLA studies to determine the zygosity of the twins showed discordance in HLA haplotypes, which indicated dizygosity. The pedigree analysis showed normal nonconsanguineos parents, and no other family members had the syndrome. The findings support the existence of an autosomal recessive type of whistling face syndrome.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D004200:Diseases in Twins; D005145:Face / Q000002:abnormalities*; D005260:Female; D005532:Foot Deformities, Congenital; D005808:Genes, Recessive; D006228:Hand Deformities, Congenital; D006801:Humans; D007231:Infant, Newborn; D010375:Pedigree; D011247:Pregnancy; D013577:Syndrome; D014429:Twins, Dizygotic