Monozygotic twins discordant for vaginal agenesis and bilateral tibial longitudinal deficiency.
OBJECTIVE
To report the first case of monozygotic twins with discordant congenital anomalies.


METHODS
Descriptive case report.


METHODS
University hospital.


METHODS
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.


METHODS
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.


METHODS
Diagnosis and appropriate treatment of Mayer-Rokitansky-Kuster-Hauser syndrome and DNA testing with STR loci for monozygosity.


RESULTS
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.


CONCLUSIONS
This case report suggests a link between developmental abnormalities of the genital and skeletal system.
Steinkampf
Michael P
MP
Department of Obsterics and Gynacology, Division of Reproductive Endocrinology and Infertility, University of Alabama at Birmingham, Birmingham, Alabama 35249-7333, USA. msteinkampf@uabmc.edu
Dharia
Sejal P
SP
Dickerson
Ryan D
RD
D000328:Adult; D001186:Artificial Limbs; D004200:Diseases in Twins / Q000235:genetics*; D005260:Female; D006801:Humans; D019738:Surgically-Created Structures; D013977:Tibia / Q000002:abnormalities* / Q000601:surgery; D014430:Twins, Monozygotic / Q000235:genetics*; D014621:Vagina / Q000002:abnormalities* / Q000601:surgery