Monozygotic twins discordant for vaginal agenesis and bilateral tibial longitudinal deficiency. 2003

Michael P Steinkampf, and Sejal P Dharia, and Ryan D Dickerson
Department 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. 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.

UI MeSH Term Description Entries
D004200 Diseases in Twins Disorders affecting TWINS, one or both, at any age. Diseases in Twin,Twin, Diseases in,Twins, Diseases in,in Twin, Diseases,in Twins, Diseases
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328 Adult A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. Adults
D001186 Artificial Limbs Prosthetic replacements for arms, legs, and parts thereof. Arm Prosthesis,Arm, Artificial,Artificial Arm,Artificial Leg,Extremities, Artificial,Leg Prosthesis,Leg, Artificial,Limb Prosthesis,Limbs, Artificial,Arm Prostheses,Arms, Artificial,Artificial Arms,Artificial Extremities,Artificial Extremity,Artificial Legs,Artificial Limb,Extremity, Artificial,Leg Prostheses,Legs, Artificial,Limb Prostheses,Limb, Artificial,Prostheses, Arm,Prostheses, Leg,Prostheses, Limb,Prosthesis, Arm,Prosthesis, Leg,Prosthesis, Limb
D013977 Tibia The second longest bone of the skeleton. It is located on the medial side of the lower leg, articulating with the FIBULA laterally, the TALUS distally, and the FEMUR proximally. Tibias
D014430 Twins, Monozygotic Two off-spring from the same PREGNANCY. They are from a single fertilized OVUM that split into two EMBRYOS. Such twins are usually genetically identical and of the same sex. Twins, Identical,Identical Twin,Identical Twins,Monozygotic Twin,Monozygotic Twins,Twin, Identical,Twin, Monozygotic
D014621 Vagina The genital canal in the female, extending from the UTERUS to the VULVA. (Stedman, 25th ed) Vaginas
D019738 Surgically-Created Structures Organs or parts of organs surgically formed from nearby tissue to function as substitutes for diseased or surgically removed tissue. Structure, Surgically-Created,Structures, Surgically-Created,Surgically-Created Structure,Structure, Surgically Created,Structures, Surgically Created,Surgically Created Structure,Surgically Created Structures

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