A Rare Case of Femoral Hypoplasia (Proximal Focal Femoral Deficiency) With Overlapping Phenotype of Mullerian Duct Syndrome (Mayer-Rokitansky-Hauser Syndrome)

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.

Proximal femoral focal deficiency – a rare congenital entity: two case reports and a review of the literature

“…Other syndromes and associations of PFFD are femoral-fibula-ulna syndrome (OMIM 228200), femoral-facial syndrome (OMIM 134780), coxa vara (OMIM 122750), oligodactyly (OMIM 176240), absent patella (OMIM 161200), absence of cruciate ligaments, spinal deformities, congenital knee instability, club foot deformities (OMIM 119800), and limb/pelvis-hypoplasia/aplasia syndrome (OMIM 276820) [2][3][4][5]13]. PFFD has also been seen to have co-existed with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome (OMIM 277000) [14]. This is a Müllerian duct anomaly whereby the uterus, fallopian tube, cervix, and vagina are congenitally absent.…”