A    RARE    CASE    OF    FEMORAL    HYPOPLASIA    (PROXIMAL    FOCAL    FEMORAL    DEFICIENCY)    WITH    OVERLAPPING    PHENOTYPE    OF MULLERIAN DUCT SYNDROME (MAYER-ROKITANSKY-HAUSER SYNDROME) Cheryl Melovitz-Vasan 1 , Hiroshi Kitoh 2 , Nagaswami Vasan * 3 . 1   Assistant Professor,   Department of Biomedical Sciences, Cooper Medical School of Rowan University, Camden, New Jersey, USA. 2 Professor,   Department of Orthopedic Surgery, Nagoya University Graduate School of Medicine, Nagoya, Japan. *3 Professor of Anatomy, Department of Biomedical Sciences, Cooper Medical School of Rowan University, Camden, New Jersey, USA. Corresponding   author:   Prof.   Dr.   Nagaswami   Vasan,   D.V.M.,   M.V.Sc.,   Ph.D.   Professor   of   Anatomy,   Department   of   Biomedical   Sciences,   Cooper   Medical   School of Rowan University 401 South Broadway, Camden, New Jersey 08103, USA. Phone: +1 (856) 361-2890 E-Mail:  vasan@rowan.edu ABSTRACT Background:    Congenital    deformities    of    the    femur    vary    from    minimal    hypoplasia    to    total    absence    with    or    without    other    skeletal    or    organ    system involvement. The proximal focal femoral deficiency is a rare congenital deformity with various degrees of involvement. Materials   and   Methods:   During   physical   examination   of   a   donated   body   (willed   body   program)   we   observed   a   donor   with   extreme   hypoplasia   of   the   left femur with other musculoskeletal anomalies. The donor was a 77-year old Caucasian female, who died of coronary artery and peripheral vascular disease. Results   and   Observations:   We   report   here   a   rare   case   of   proximal   focal   femoral   deficiency   with   overlapping   phenotype   of   Müllerian   duct   anomaly   typifying congenital   absence   of   uterus,   fallopian   tube,   uterine   cervix   and   vagina   (Mayer-Rokitansky-Kuster-Hauser   (MKRH)   syndrome).   Dissection   of   the   cadaver revealed   unilateral   hypoplasia   of   the   left   femur   with   an   aplastic   acetabulum,   femoral   head   and   patella.   The   left   tibia   and   fibula   were   anatomically   normal but   shorter.   The   ovaries   were   small   and   atrophied.   The   external   genital   structure   was   normal   with   blind   ending   vagina.   We   also   observed   involvement   of vascular structures. Conclusion:    The   features   we   observed   are   described   in   the   literature   as   that   of   proximal   focal   femoral   deficiency    with   overlapping   phenotype   of   Mayer- Rokitansky-Kuster-Hauser   syndrome.   This   is   first   report   of   coexistence   of   a   proximal   focal   femoral   deficiency   and   congenital   absence   of   uterus,   Fallopian tubes, uterine cervix and vagina is a rare defect. KEY WORDS: Proximal focal femoral deficiency, Mayer-Rokitansky-Kuster-Hauser syndrome, Al-Awadi-Raas-Rothschild syndrome, Fuhrmann syndrome, vascular defect, femoral hypoplasia, Müllerian duct anomaly. References 1 . Ergin,   H.         Semerci,   CN,   Bican,   M   et   al.   A   case   with   proximal   femoral   focal   deficiency   (PFFD)   and   fibular   A/hypoplasia   (FA/H)   associated   with   urogenital anomalies. The Turkish Journal of Pediatrics 2006;48:380-382. 2 . 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