Type:
Educational Exhibit
Keywords:
Paediatric, Anatomy, Bones, Extremities, Conventional radiography, CT, Ultrasound, Diagnostic procedure, Congenital, Developmental disease, Not applicable
Authors:
S. A. M. Ibrahim, H. Esmayil, T. Salem Alyafei; Doha/QA
DOI:
10.26044/ecr2020/C-14789
Background
Lower limb malformations can be isolated or sporadic events and sometimes associated with other anomalies of the bones and/or viscera in patients with constitutional syndromes or disorders of the skeleton.
Congenital limb malformations are the second most common birth defects, ranking only behind congenital heart disease [1]. Can be genes mutations, such as the “homebox” genes and fibroblast growth factors and their receptor genes [2]. Can be due to soft-tissue and/or vascular disruption defects, such as amniotic band-related limb deficiency, and environmental factors, such as teratogen exposure. Maternal causes like cigarette smoking, thrombophilia and poorly controlled diabetes during the first trimester.
Some terminologies associated with limb anomalies are amelia - complete absence of a limb; meromelia - partial absence of a limb; hemimelia - absence of half a limb; phocomelia - flipper-like appendage attached to the trunk; acheiria - missing foot; adactyly - absence of metatarsal; aphalangia - absent digit; symbrachydactyly - combination of syndactyly and brachydactyly. 46
Multiple different classification systems are available to categorise limb abnormalities such as Classic Classification, Frantz Classification, International Society for Prosthetics and Orthotics (ISPO) Classification System. The ISPO system for example, divides the congenital limb anomalies into transverse (no distal remaining portions) or longitudinal defects (distal portions are present) [3].
We describe the congenital lower limb anomalies as follows:
1. Congenital lower limb deficiency:
a. Longitudinal defects:
b. Transverse defects:
2. Congenital lower limb deformity:
-
Sirenomelia
-
Syndactyly
-
Polydactyly
-
Congenital tibial bowing
3. Foot deformities:
-
Vertical Talus
-
Club foot
-
Tarsal coalition