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How   to   cite   this   Article:    Cheryl   Melovitz-Vasan,   Hiroshi   Kitoh,   Nagaswami   Vasan.    A   RARE   CASE   OF   FEMORAL   HYPOPLASIA   (PROXIMAL FOCAL    FEMORAL    DEFICIENCY)    WITH    OVERLAPPING    PHENOTYPE    OF    MULLERIAN    DUCT    SYNDROME    (MAYER-ROKITANSKY-HAUSER SYNDROME).  Int J Anatomy Res 2016;4(4):3312-3316. DOI: 10.16965/ijar.2016.474.
Type of Article: Case Report DOI: http://dx.doi.org/10.16965/ijar.2016.474 Page No.:  3312-3316
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 . Hamanishi   C.   Congenital   short   femur.   Clinical,   genetic   and   epidemiological   comparison   of   the   naturally   occurring   condition   with   that   caused   by thalidomide. J Bone Joint Surg Br. 1980;62:307-320. 3 . Ring, PA.Congenital abnormalities of the femur. Arch Dis Child 1961;36:410-417. 4 . Emek   D,   Köpük   SY,   Çakıroğlu   Y,   Çakır   Ö,   Yücesoy   G.   Unilateral   Isolated   Proximal   Femoral   Focal   Deficiency.   Obstetrics   and   Gynecology.2013;1-4.   Article ID 637904 http://dx.doi.org/10.1155/2013/637904. 5 . Aitken   GT.   Proximal   femoral   focal   deficiency-Definition,   classification,   and   management.   In:   Proximal   Femoral   Focal   Deficiency.   A   Congenital   Anomaly. Aitken GT (ed) Washington, DC. National Academy of Sciences. 1969. p 1. 6 . Matsushita   M,   Kitoh   H,      Mishima   K,   Nishida   Y   &   Ishiguro   N.   A   case   of   severe   proximal   focal   femoral   deficiency   with   overlapping   phenotypes   of   Al- Awadi-Ross-Rothschild syndrome and Fuihrmann syndrome. Pediatr Radiol 2014;44:1617-1619. 7 . Moore KL, Persaud TVN, Torchia M. Urogenital system. In: The Developing Human, Clinically Oriented Embryology. Elsevier, Inc. 2016; p.241. 8 . Goncalves,   LF.   De   Lucca,   DA.   Vitorello,   DA   et   al.   Prenatal   diagnosis   of   bilateral   proximal   femoral   hypoplasia.   Ultrasound   in   Obstetrics   and   Gynnecology 1996;8:127-130. 9 . Lloyd-Roberts, GC. Stone, KH. Congenital hypoplasia of upper femur. J Bone and Joint Surg. 1963;45B:557-560. 1 0 . Epps CH. Proximal femoral focal deficiency. J Bone Joint Surg Am 1983; 65:867-870. 1 1 . Panting AL, Wiiliams PF. Proximal femoral focal deficiency. J Bone Joint Surg Br.1978;60:46-52. 1 2 . Gillespie R, Torode IP. Classification and management of congenital abnormalities of the femur. J Bone Joint Surg Br .  1983;65:557-568.   1 3 . Chomiak   J,   Horák   M,   Masek   M,   Frydrychová   M,   Dungl   P.   Computed   tomographic   angiography   in   proximal   femoral   focal   deficiency.   J   Bone   Joint   Surg Am 2009;91:1954-64. 1 4 . Daentl DL, Smith DW, Scott CI et al. Femoral hypoplasiaunusual facies syndrome. J Pediatr 1975;86:107–111. 1 5 . Garavelli   L,   Wischmeijer   A,   Rosato   S,   Gelmini   C,   Reverberi   S,   Sassi   S,   Ferrari   A,   Mari   F,   Zabel   B,   Lausch   E,   Unger   S,   Superti-Furga   A.   Al-Awadi–Raas- Rothschild   (limb/pelvis/uterus–hypoplasia/aplasia)   syndrome   and   WNT7A    mutations:   Genetic   homogeneity   and   nosological   delineation.   Am   J   Med Genet Part A 2011;155:332–336. 1 6 . AlQattan   MM,   AlAbdulkareem   I,   Ballow   M   et   al.   A   report   of   two   cases   of   Al-Awadi   Raas-Rothschild   syndrome   (AARRS)   supporting   that   “apparent” Phocomelia differentiates AARRS from Schinzel Phocomelia syndrome (SPS). Gene. 2013;527:371–375. 1 7 . Varner RE, Younger JB, Blackwell RE. Mullerian dysgenesis. J Reprod Med. 1985;30:443-450. 1 8 . Johnson   JP,   Carey   JC,   Manford   Gooch   III   W,   Petersen   J,   Beattie   JF.   Femoral   hypoplasia-unusual   facies   syndrome   in   infants   of   diabetic   mothers.   J. Pedaitr. 1983;102:866-872. 1 9 . Boden   SD,   Fallon   MD,   Davidson   R,   Mennuti   MT,   Kaplan   FS.   Proximal   femoral   focal   deficiency.   Evidence   for   a   defect   in   proliferation   and   maturation   of chondrocytes. J Bone Joint Surg Am 1989;71:1119-1129. 2 0 . Laurenson R.D. Development of the Acetabular Roof in the Fetal Hip. J Bone Joint Surg Am. 1965;47:975-983. 2 1 . Lewin SO, Opitz JM. Fibular a/hypoplasia: review and documentation of the fibular developmental field. Am J Med Genet. 1986;91:347-356. 2 2 . Goodman FR. Limb malformation and the human Hox genes. Am J Med Genet 2002;112:256-265. 2 3 . Woods   CG,    Stricker   S ,   Seemann   P ,   Stern   R,   Cox   J,   Sherridan   E.   et   al.   Mutations   in   WNT7A   Cause   a   Range   of   Limb   Malformations,   Including   Fuhrmann Syndrome and Al-Awadi/Raas-Rothschild/Schinzel Phocomelia Syndrome. Am. J. Hum. Genet 2006;79:402-408. 2 4 . Taylor HS. Endocrine Disruptors Affect Developmental Programming of HOX Gene Expression. Fertil Steril 2008; 89 (2 Suppl):e57–e58. 2 5 . Al-Awadi   A,   Teebi   AS,   Farag   TJ,   Naguib   KM,   El-Khalifa   MY.   Profound   limb   deficiency,   thoracic   dystrophy,   unusual   faces,   and   normal   intelligence:   a   new syndrome. J Med Genet 1985;22:36-38. 2 6 . 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Volume 4 |Issue 4.3 |  2016 Date of Publication:  31 December 2016
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