Monozygotic twins discordant for vaginal agenesis and bilateral tibial longitudinal deficiency

Abstract

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.