OWL: OCOSH Classification/Bone Diseases/Bone Developmental Diseases/Bone Deficiencies

A case with proximal femoral focal deficiency and fibular hypoplasia

Not Available — 2008-03-21 23:30:00 GMT

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 occur with or without fibular hemimelia and can be unilateral or bilateral in presentation[8]. FAH covers a spectrum of malformations including variable degrees of FAH, shortening of the tibia and femur, genu valgum and lateral femoral condyle hypoplasia, knee ligament laxity, tibial bowing, ball and socket ankle joint, tarsal coalitions and missing lateral rays of the foot[9]. In the case presented, anomalies on the left side included hypoplasia of the proximal femur, fibular aplasia, tibial hypoplasia, aplasia of the distal femoral epiphyses, talar aplasia and oligosyndactyly. Some additional features and malformations have been defined associated with congenital limb deficiency including facial, gastrointestinal, urogenital, cardiac, and diaphragmatic anomalies

Cappagh Case 2 Fibular Hemimelia

Not Available — 2008-03-21 23:30:00 GMT

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 knee and deformity of the tibia and foot.

Case 41. Proximal Femoral Focal Deficiency

Magdy Abdel-Mota'al — 2002-02-04 23:30:00 GMT

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.

Congenital deficiency of the fibula JBJS B

C Achterman and A Kalamchi — 2008-03-21 23:30:00 GMT

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 cent of patients with Type I deficiency and in 59 per cent with Type II. The shortening of the limb was by 13 per cent in Type I and by 19 per cent in Type II, and the percentage shortening was fairly constant during growth. A detailed description of the spectrum of other congenital anomalies was found to be characteristic: for example, the ball and socket formation of the ankle, tarsal coalition and anomalies of the foot. The treatment aimed simply to equalise leg length in Type I deficiency, while amputation of the foot and the fitting of a prosthesis were necessary in Type II to obtain satisfactory function. (Full text available)
C Achterman and A Kalamchi Journal of Bone and Joint Surgery - British Volume, 1979, Vol 61-B, Issue 2, 133-137

Congential aplasia and dysplasia of the tibia with intact fibula JBJS B

D Jones, J Barnes, and GC Lloyd-Roberts — 2008-03-21 23:30:00 GMT

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 accurate diagnosis to be of the utmost importance in planning future treatment, both in order that unnecessarily proximal amputations or unrewarding operations designed to preserve the foot may be avoided, and that an opportunity to preserve a functioning knee may not be missed.
D Jones, J Barnes, and GC Lloyd-Roberts Congenital aplasia and dysplasia of the tibia with intact fibula. Classification and management J Bone Joint Surg Br, Feb 1978; 60-B: 31 - 39.

Congential Pseudarthrosis of the Clavicle eMedicine Orthopedics

Koman — 2008-04-07 23:30:00 GMT

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 the pseudoarthrosis and osteosynthesis.
Synonyms and related keywords: congenital failure of formation clavicle, shoulder deformity, chest deformity
Author: L Andrew Koman, MD 2002

Coxa Vara

C.R.Wheeless — 2002-02-04 23:30:00 GMT

- 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), developmental (AD-progressive), or acquired (trauma, LCP, SCFE)
Wheeless' Textbook of Orthopaedics

Dyschondrosteosis

Not Available — 2005-07-16 23:30:00 GMT

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 (Madelung deformity), unusually short lower legs, and associated short stature (mesomelic dwarfism). Affected individuals may also exhibit abnormalities of the large bone of the upper arm (humerus); abnormal bony growths projecting outward from the surface of the shin bones (exostoses of the tibia); unusually short, broad bones in the fingers and toes; and/or abnormalities of the hipbone (i.e., coxa valga). Dyschondrosteosis appears to affect females more severely than males. The disorder is inherited as an autosomal dominant or "pseudoautosomal" trait.

Fibular Hemimelia Diseases Database

Not Available — 2008-03-21 23:30:00 GMT

Fibular hemimelia aka/or Postaxial hypoplasia of the lower extremity
may cause or feature
* Disproportionate short stature
* Genu valgum
* Genu varum
* Limb bone deformity
may be associated with
* Acetabular Dysplasia
* Tarsal Coalition

Fibular Hemimelia eMedicine Orthopedics

Holmstrom & Stevens — 2008-03-21 23:30:00 GMT

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 seen with this syndrome.
Synonyms and related keywords: postaxial hypoplasia of the lower extremity, fibular hypoplasia, fibular aplasia, fibular abnormality, limb-length discrepancy, postaxial hypoplasia of the lower extremity
Holmstrom & Stevens 2004

Fibular Hemimelia Wheeless

C.R.Wheeless — 2008-03-21 23:30:00 GMT

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;

Gollop Wolfgang Complex OMIM

Not Available — 2008-03-21 23:30:00 GMT

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 tibias, and unilateral bifurcation of the femur. A sister of the paternal grandfather was purportedly similarly affected.

Ipsilateral femoral bifurcation and tibial hemimelia JBJS A

Ogden — 2008-03-21 23:30:00 GMT

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

Paraxial Tibial Hemimelia Wheeless

C.R.Wheeless — 2008-03-21 23:30:00 GMT

- 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.
- 30% percent of cases are bilateral;

PFFD Ladisten Clinic

Not Available — 2008-03-21 23:30:00 GMT

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