A Rare Case of Proximal Focal Femoral Deficiency with Overlapping Phenotype of Müllerian Duct Irregularity: An Anatomical and Embryological Anomaly

Proximal focal femoral deficiency (PFFD) is a rare congenital deformity with various degrees of involvement of the femur with or without other skeletal or organ involvement. Aitken (1969) described and ranked four classes (A‐D) of PFFD severity (least to most severe). In class D the severely shortened femoral shaft appears as an irregularly ossified tuft of bone proximal to the distal femoral epiphysis. During physical examination of a donated body we observed 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. Dissection of the cadaver revealed unilateral hypoplasia of the left femur with an aplastic acetabulum, femoral head and patella. Further detailed dissection revealed the absence of the uterus, Fallopian tubes, uterine cervix and the upper part of the vagina. The ovaries were small and atrophied. The external genital structure was normal with blind ending vagina. We also observed involvement of vascular structures. Coexistence of a proximal focal femoral deficiency and congenital absence of the uterus, Fallopian tubes, uterine cervix and vagina is a rare defect (Müllerian duct irregularity) that has not been reported. There is a similarity in the musculoskeletal deformity between the class D phenotype of PFFD we have observed and those with Al‐Awadi‐Raas‐Rothschild syndrome and Fuhrmann syndrome. We report here a rare case of Al‐Awadi‐Raas‐Rothschild syndrome and Fuhrmann syndrome with overlapping phenotype of Mayer‐Rokitansky‐Kuster‐Hauser (MKRH) syndrome typifying congenital absence of the uterus, fallopian tube, cervix and vagina‐Müllerian duct anomaly. Support or Funding Information Supported by the department of Biomedical Sciences, CMSRU.