Monozygotic twins discordant for vaginal agenesis and bilateral tibial longitudinal deficiency.

Objective: To report the first case of monozygotic twins with discordant congenital anomalies.

Design: Descriptive case report.

Setting: University hospital.

Patient(s): A 20-year woman with complete vaginal agenesis (Mayer-Rokitansky-Kuster-Hauser syndrome) and right renal agenesis presented for creation of a neovagina. She had a monozygous twin confirmed by DNA testing using short tandem repeat (STR) loci; the twin had normal mullerian/mesonephric development but isolated bilateral tibial longitudinal deficiency.

Intervention(s): The complete history, physical, and laboratory data of both the patient and her twin. Also, operative laparoscopy with creation of a neovagina in the patient.

Main Outcome Measure(s): Diagnosis and appropriate treatment of Mayer-Rokitansky-Kuster-Hauser syndrome and DNA testing with STR loci for monozygosity.

Result(s): The surgical resection of the bilateral uterine remnants, creation of a neovagina in the patient, and the demonstration of monozygosity with her twin with bilateral tibial longitudinal deficiency.

Conclusion(s): This case report suggests a link between developmental abnormalities of the genital and skeletal system.