Congenital Hypoplasia of the Upper Femur

Lloyd-Roberts, G. C.; Stone, Kyle

doi:10.1302/0301-620x.45b3.557

Cited by 13 publications

(2 citation statements)

References 4 publications

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“…Congenital defects of the long bones and the extent of the defects varied from total absence to minor differences [1,2]. Unilateral femoral dysplasia accounts for 85-90% of congenital skeletal defects [8] and the affected individuals are mostly female [9].…”

Section: Resultsmentioning

confidence: 99%

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

Melovitz-Vasan¹,

Kitoh²,

Vasan³

2016

IJAR

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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.

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Section: Resultsmentioning

confidence: 99%

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

Melovitz-Vasan¹,

Kitoh²,

Vasan³

2016

IJAR

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show abstract

“…Many of these continued to have marked abductor weakness and Trendelenburg gait. Lloyd-Roberts and Stone (1963) described the technique of fibular grafting combined with valgus osteotomy in a case of pseudarthrosis of the proximal femur. Union was achieved, but the procedure was complicated by heterotopic ossification between the femur and the ilium; this recurred despite excision.…”

Section: Discussionmentioning

confidence: 99%