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MELAS
Joseph Junewick, MD FACR
over 6 years ago
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ARSt Case Repository

Fibula Hemimelia

Case Detail

Anatomy: Musculoskeletal
Junewick
Joseph Junewick, MD FACR
Diagnostic Category: Developmental or Congenital
Created: over 5 years ago
Updated: over 5 years ago
Tags: PEDS
Modality/Study Types: CR
Activities:
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History

Newborn with limb deformity.


Case Images


Diagnosis

Fibula Hemimelia

Findings

CR – Lateral radiograph of the right leg shows a short thin fibula, anterior bowing of the tibia and absence of the lateral 2 rays of the foot.

Discussion

Fibula hemimelia is a rare disorder. However, it is the most common malformation among the long bone deficiency disorders. It has been estimated that there are approximately 5.7 to 20 cases per 1 million births. Fibular hemimelia is classified as hypoplasia or aplasia; aplasia is more common than hypoplasia. Unilateral involvement is more common than bilateral; anterior tibial bowing is associated with unilateral involvement whereas the tibias are usually straight with bilateral involvement. The right side is more commonly affected than the left and males are more commonly affected than females. The precise etiology of fibula hemimelia is unclear but association with anomalies of the lateral aspect of the limb suggest a focal insult of the limb bud during embryogenesis. The prognosis depends on the degree of limb deformity. A clinically nonfunctional foot or a limb length discrepancy of greater than 30% usually fares better with surgical amputation and early use of prosthesis; whereas less significant deformities may do well with lengthening procedures and conservative treatment.

Reference

Monteagudo A, Dong R, Timor-Tritsch IE. Fetal fibular hemimelia: case report and review of the literature. J Ultrasound in Med (2006); 25(4): 533–537.

Contributor

Chirag Patel, MD



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