Bone Deficiencies (Subscribe)  

A case with proximal femoral focal deficiency (PFFD) and fibular A/hypoplasia (FA/H) associated with urogenital anomalies. The Turkish Journal of Pediatrics 2006, Volume 48, Number 4, Page(s) 380-382
Proximal femoral focal deficiency is a rare malformation of the lower limbs that involves the femur and acetabulum in varying degrees. It may...

Briefly,this child age 2.5years has an isolated congenital abnormality of his left lower limb. There is no family history and he was a normal delivery at full term. As you can see from the attached clinical photographs he has limb length discrepancy with 20 degrees of valgus angulation at the...

Proximal femoral focal deficiency, PFFD, is a congenital anomaly of the pelvis and proximal femur which causes hip deformity and shortening and altered function of the involved lower extremity. The condition may be unilateral or bilateral and is often associated with other congenital anomalies.

Abstract - Ninety-seven limbs, in eighty-one patients, with a diagnosis of congenital deficiency of the fibula have been reviewed. A classification was devised to distinguish the minimal hypoplasia of the fibula (Type I) from the well-known complete absence (Type II). Congenital anomalies of the femur were present in 76 per...

We have reviewed congenital aplasia or dysplasia of the tibia with intact fibula in twenty children (twenty-nine limbs). We have described four morphological groups and four radiological types, and have proposed the clinical and radiological features which in early infancy distinguish these varieties, which vary in their prognosis. We regard...

Congenital failure of the clavicle to form is rare. Fewer than 200 cases have been described in the English literature. A painless mass over the right clavicle is the most common finding that prompts parents to seek consultation with a physician. Treatment may consist of mere observation or resection of...

- decreased neck shaft angle from defect in ossification of femoral neck;
- it is bilateral in 1/3 to 1/2 of cases;
- it can be congenital (noted at birth & differenitated from CDH by MRI), ...

Dwarfism, Madelung Deformity. NORD Database
Dyschondrosteosis is a very rare inherited disorder characterized by unusually shortened, bowed bones in the forearms (radius and ulna), abnormal deviation of the wrist toward the thumb side of the hand due to shortening of the radius and dislocation of the end portion of the ulna...

Fibular hemimelia aka/or Postaxial hypoplasia of the lower extremity
may cause or feature
* Disproportionate short stature
* Genu valgum
* Genu varum
...

A constellation of lower-extremity features accompanies fibular hemimelia. These should be evaluated and treated when appropriate. The association of these features has led to a recent recommendation that the name postaxial hypoplasia of the lower extremity may be more appropriate and a better description of the entire pattern of abnormalities...

among most frequent limb anomalies is partial or total absence of fibula;
- it is most common long bone deficiency and is the most common skeletal deformity in the leg;

FEMUR, UNILATERAL BIFID, WITH MONODACTYLOUS ECTRODACTYLY
Gollop et al. (1980) described 2 brothers, each with 1 normal upper limb; 1 had tridactylous ectrodactyly of 1 hand with normal radius and ulna, and the other had monodactyly of 1 hand with absent ulna. Both had monodactyly of the feet, absence of the...

PDF version of: J Bone Joint Surg Am Ogden 58 (5): 712.(1976)

- distal end of femur is hypoplastic, tibia is absent, & proximal dislocation of fibular head;
- incidence is 1 in 1 million.
- has a familial inheritance;
- tibial hemimelia may be terminal or intercalary, complete or incomplete.
...

Report of a case of Proximal Femoral Focal Deficiency treated by Ilizarov technique. Well illustrated