Related Experiment Video
Updated: Jul 6, 2026
06:53
A Rat Tibial Growth Plate Injury Model to Characterize Repair Mechanisms and Evaluate Growth Plate Regeneration Strategies
Published on: July 4, 2017
Tibial developmental field defect is the most common lower limb malformation pattern in VACTERL association
Marco Castori1, Rosanna Rinaldi, Sandra Cappellacci
1Medical Genetics, Experimental Medicine Department, Sapienza-University of Rome, S. Camillo-Forlanini Hospital, Rome, Italy. m.castori@idi.it
American Journal of Medical Genetics. Part A
|April 5, 2008
Summary
VACTERL association, a common birth defect pattern, often involves limb anomalies. This study highlights tibial ray malformations as a frequent finding in VACTERL patients, suggesting a link to developmental field defects.
Area of Science:
- Developmental Biology
- Clinical Genetics
- Pediatric Malformations
Background:
- VACTERL association is a recognized pattern of multiple congenital anomalies.
- Limb anomalies, particularly radial ray defects, are characteristic but variable in VACTERL.
- The condition is understood as a multiple polytopic developmental field defect.
Observation:
- A case report details a boy with VACTERL, including costovertebral defects, dextrocardia, radial ray hypo/aplasia, kidney agenesis, anal atresia, and complex lower limb malformation.
- A literature review identified 24 additional VACTERL patients with lower limb malformations.
- The patient presented with distal tibial aplasia, clubfoot, hallucal deficiency, and preaxial polydactyly.
Findings:
- Tibial hypo/aplasia and related tibial field defects are the most common lower limb anomalies in VACTERL, occurring in approximately 68% of patients.
- Fibular ray involvement is less common (20%) and often associated with tibial anomalies.
- These findings support the developmental field theory, explaining the homology in limb malformations.
Implications:
- The high frequency of tibial anomalies in VACTERL warrants careful examination of lower limb development in affected individuals.
- Understanding these patterns aids in diagnosis and management of VACTERL association.
- This research contributes to the understanding of polytopic developmental field defects and their manifestation in limb development.
Related Concept Videos
01:10Bones of the Lower Limb: Tibia and Fibula
The tibia is the main weight-bearing bone of the lower leg. It is larger than the fibula with which it is paired. The tibia is also the second longest bone in the body and is located right below the skin. The proximal end of the tibia forms the medial and the lateral condyle, which articulates with the condyles of the femur to form the knee joint. Between the articulating surfaces is the irregular elevated area known as the intercondylar eminence that serves as the inferior attachment point for...
01:16Bones of the Lower Limb: Femur and Patella
The femur is the body's longest and strongest bone spanning the thigh region. Its head articulates with the acetabulum of the hip bone to form the hip joint. A minor indentation on the medial side of the femoral head, called the fovea capitis, serves as the site of attachment for the ligament of the head of the femur. This weak ligament spans the femur and acetabulum and supports the hip joint. The narrowed region below the head is the neck of the femur. The inclination angle between the neck...
01:20Venous Thrombosis II: Clinical Manifestations and Diagnostic Studies
The key difference between Superficial Vein Thrombosis (SVT) and Deep Vein Thrombosis (DVT) lies in their location and severity.Clinical ManifestationsSVT typically presents with localized pain, tenderness, and redness along the course of a superficial vein, often accompanied by a palpable, cord-like structure under the skin. This condition is usually less dangerous than DVT but can be uncomfortable and may lead to complications such as cellulitis or, rarely, a clot extension into the deep...
01:15Veins of Lower Limbs
The human body consists of an intricate network of veins responsible for the crucial task of blood drainage from the lower limbs. These veins can be categorized into two main types: deep veins and superficial veins.
Formed by the union of the medial and lateral plantar veins, the posterior tibial vein, rising through the calf muscle, assimilates the fibular vein. The anterior tibial vein, a superior extension of the foot's dorsalis pedis vein, merges with the posterior tibial vein at the knee,...
Formed by the union of the medial and lateral plantar veins, the posterior tibial vein, rising through the calf muscle, assimilates the fibular vein. The anterior tibial vein, a superior extension of the foot's dorsalis pedis vein, merges with the posterior tibial vein at the knee,...
01:09Changes in the Appendicular Skeleton with Age
The upper and lower limb initially develops as a small bulge called a limb bud, which appears on the lateral side of the early embryo. The upper limb bud appears near the end of the fourth week of development, with the lower limb bud appearing shortly after.
Initially, the limb buds consist of a core of mesenchyme covered by a layer of ectoderm. The ectoderm at the end of the limb bud thickens to form a narrow crest called the apical ectodermal ridge. This ridge stimulates the underlying...
Initially, the limb buds consist of a core of mesenchyme covered by a layer of ectoderm. The ectoderm at the end of the limb bud thickens to form a narrow crest called the apical ectodermal ridge. This ridge stimulates the underlying...
01:30Venous Thrombosis I: Introduction
Venous thrombosis, the most common disorder of the veins, involves the formation of a thrombus or blood clot associated with vein inflammation. It can be classified as either superficial vein thrombosis or deep vein thrombosis.Superficial Vein Thrombosis: This involves the formation of a thrombus in a superficial vein, usually the greater or lesser saphenous vein. Though less severe than deep vein thrombosis (DVT), SVT can lead to complications if untreated.Deep Vein Thrombosis (DVT): This...