Discordance for skeletal and cardiac defect in monozygotic twins.
A case of monozygotic male twins discordant for skeletal and cardiac defect is reported. One twin had the hemifacial microsomia type of the oculo-auriculo-vertebral dysplasia. The cotwin had no asymmetry of the face and normal ears, but preaxial polydactyly and ventricular and auricular septal defects. The cotwins were concordant for craniostenosis with a ridge metopic suture. Karyotypes were normal.
D004200:Diseases in Twins; D005146:Facial Asymmetry / Q000235:genetics*; D005260:Female; D006053:Goldenhar Syndrome / Q000235:genetics; D006345:Heart Septal Defects, Ventricular / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011247:Pregnancy; D014430:Twins, Monozygotic