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Published on: May 1, 2015
[Malformations of the lower extremities]
1Kinderorthopädische Universitätsklinik, Universitätskinderklinik beider Basel (UKBB), Postfach, 4005 Basel, Schweiz. fritz.hefti@unibas.ch
Insights
Congenital lower extremity deficiencies, affecting 18 in 100,000 newborns, stem from genetic or early pregnancy factors. Treatment involves a multidisciplinary team approach for optimal outcomes.
Area of Science:
- Orthopedics and Genetics
- Developmental Biology
- Pediatric Surgery
Context:
- Congenital lower extremity deficiencies are rare malformations, impacting approximately 18 in 100,000 live births.
- Etiologies include toxic exposures during early gestation (4-12 weeks) and genetic factors.
- Common types include fibular hemimelia, congenital femoral deficiency, and tibial hemimelia, often with associated digital or ray defects.
Purpose:
- To provide an overview of congenital deficiencies of the lower extremities.
- To discuss the incidence, common types, and associated conditions.
- To outline available treatment modalities and the importance of specialized care.
Summary:
- The incidence of congenital lower extremity deficiencies is approximately 18 per 100,000 newborns.
- Fibular hemimelia is the most common type, followed by congenital femoral and tibial hemimelias.
- Treatment strategies range from conservative measures to surgical interventions, necessitating a multidisciplinary team.
Impact:
- Highlights the rarity and diverse origins of these congenital conditions.
- Emphasizes the need for early diagnosis and comprehensive management by specialists.
- Informs clinicians and researchers about the spectrum of lower limb malformations and their treatment.
Abstract:
Malformations with deficiencies of the lower extremities are rare. They are usually caused by toxic influences during pregnancy between the 4th and the 12th week of gestation. Some malformations have a genetic origin. The total incidence of congenital deficiencies of the lower extremities is approximately 18 in 100,000 newborns. The most common deficiencies are fibular hemimelias, followed by congenital femoral deficiencies and tibial hemimelias. Hemimelias are often associated with deficient toes or ray defects. Congenital pseudarthrosis of the tibia is less common, but this diagnosis is underestimated in epidemiological studies in neonates, because the fracture usually only occurs at walking age. Other deficiencies such as bladder exstrophy with pelvic defects, split feet and defects in association with hereditary skeletal dysplasias (Apert syndrome, constriction band syndrome) are extremely rare. Various treatment options are available, including shoe elevation, orthotic or prosthetic devices, realignment osteotomy, arthrodesis, rotationplasty, amputation and surgical leg lengthening. Complex deformities should be treated by a team of specialists such as orthopedic surgeons, orthotists, physiotherapists, psychologists and possibly other surgeons too.
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