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Published on: September 5, 2011
Monozygotic twins discordant for vaginal agenesis and bilateral tibial longitudinal deficiency
Michael P Steinkampf1, Sejal P Dharia, Ryan D Dickerson
1Department of Obsterics and Gynacology, Division of Reproductive Endocrinology and Infertility, University of Alabama at Birmingham, Birmingham, Alabama 35249-7333, USA. msteinkampf@uabmc.edu
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.
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