Stoll C, Roth M P, Dott B, Bigel P
Acta Genet Med Gemellol (Roma). 1984;33(3):501-4. doi: 10.1017/s0001566000005961.
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.
报道了一例单卵双胎男性,其骨骼和心脏缺陷不一致。其中一个双胞胎患有眼耳脊椎发育不良的半侧颜面短小畸形类型。另一个双胞胎面部无不对称且耳朵正常,但有轴前多指畸形以及室间隔和房间隔缺损。这对双胞胎在颅缝早闭伴额缝嵴方面是一致的。核型正常。