There are an enormous number of genetic and environmental influences upon the musculoskeletal system. The first page on this topic introduced some key major abnormalities, this current page is an attempt to provide additional information on other rarer Musculoskeletal Abnormalities.
Some defects appear as obvious malformations, such as syndactyly and limb reductions. Other muscular defects only become obvious postnatally when the muscles are required to be used, those in highest use are respiratory (diaphragm, intercostals) and anti-gravity (those that hold you upright) muscles.
Introduction | Tibial Hemimelia | Australian Statistics | References
1. Normal growth and development of the limb requires (a) normal cell numbers; (b) normal locomotor elements, e.g. bone, joint, muscle; (c) normal blood and nerve supply.
2. Retardation of limb growth is produced by (a) deficient nerve supply; (b) impaired blood supply or (c) systemic abnormalities affecting the growth plate.
3. Increased limb growth is produced by some nerve malformations and by increased blood supply to the growth plate.
Congenital deficiency of the tibia: tibial hemimelia, aplasia, or dysplasia occurs with an incidence of approximately 1 per 1 million live births. This rare lower limb anomaly is characterized by deficiency of the tibia with relatively intact fibula, which historically (by Jones, 1978) has been classified into 4 groups (type I-IV) based on radiology data. The treatment of severe tibial hemimelia has been in the past by amputation, there has recently been some preliminary data on alternative therapeutics (see Hosny, 2005).
Limb development occurs at different times for forelimbs and hindlimbs. In the mid-4th week, human upper limb buds first form and lower limbs about 2 days later. The limbs form at vertebra segmental levels C5-C8 (upper limbs) L3-L5 (lower limbs).
The tibia is situated on the medial side of the leg and is the longest bone of the skeleton (excepting the femur), with reportedly more variation in length and form than any other limb long bone.
Links:
UNSW Embryology Limb Development | Stage 22 - Lower Limb | Stage 22 - Lower Limb Section G4
OMIM Entry - 275220 TIBIAL HEMIMELIA
See also Support Group Website Hemimelia - Information and Support Group
Gray's Anatomy of the Human Body The Tibia (Shin Bone)
llustrated Encyclopedia of Human Anatomic Variation Tibia and Fibula
References
Fernandez-Palazzi F, Bendahan J, Rivas S., Congenital deficiency of the tibia: a report on 22 cases, J Pediatr Orthop B. 1998 Oct;7(4):298-302. Review.
Hosny GA. Treatment of tibial hemimelia without amputation: preliminary report. J Pediatr Orthop B. 2005 Jul;14(4):249-54.
Kantaputra PN, Chalidapong P., Are triphalangeal thumb-polysyndactyly syndrome (TPTPS) and tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome (THPTTS) identical? A father with TPTPS and his daughter with THPTTS in a Thai family. Am J Med Genet. 2000 Jul 17;93(2):126-31. Review.
Jones D., Barnes J., Lloyd-Roberts G.C.J., Congenital aplasia and dysplasia of the tibia with intact fibula: classification and management. Bone Joint Surg. 60B: 31-39, 1978.
Search Pubmed Now: Tibial hemimelia[TITL]
Data shown as a % of all Major Abnormalities based upon published statistics using the same groupings as CMA 81-92.
You can also see:
all the statistical data as graphs
List of all Minor Abnormalities
Online Medline Database PubMed- Medline
National Library of Medicine (US) search service to access the 9 million citations in MEDLINE and Pre-MEDLINE (with links to participating on-line journals), and other related databases.
Internet Search this database or use the form below with the keyword skmus or related topics. You can also restrict to reviews or by date published.
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This page is currently being developed to cover additional relevant Musculoskeletal Abnormalities.
This system (muscle, bone, connective tissue) has a large number of genetically associated disorders identified prenatally by ultrasound and neonatally in the infant.
In addition, there are later developing postnatal disorders identified with development (walking, Duchenne muscular dystrophy) and associated with growth (puberty, scoliosis).
Please email Dr Mark Hill if you wish to make a comment about this current project.