Talk:Musculoskeletal System - Limb Abnormalities: Difference between revisions
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This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial Share Alike License (http://creativecommons.org/licenses/by-nc-sa/3.0), which permits unrestricted non-commercial use, distribution and reproduction in any medium provided that the original work is properly cited and all further distributions of the work or adaptation are subject to the same Creative Commons License terms. | This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial Share Alike License (http://creativecommons.org/licenses/by-nc-sa/3.0), which permits unrestricted non-commercial use, distribution and reproduction in any medium provided that the original work is properly cited and all further distributions of the work or adaptation are subject to the same Creative Commons License terms. | ||
http://www.ncbi.nlm.nih.gov/omim?term=CYP26A1 | |||
==2007== | ==2007== | ||
Revision as of 10:59, 6 March 2012
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Cite this page: Hill, M.A. (2026, September 19) Embryology Musculoskeletal System - Limb Abnormalities. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/Talk:Musculoskeletal_System_-_Limb_Abnormalities |
2011
A clinical and experimental overview of sirenomelia: insight into the mechanisms of congenital limb malformations
Dis Model Mech. 2011 May;4(3):289-99. Epub 2011 Apr 18.
Garrido-Allepuz C, Haro E, González-Lamuño D, Martínez-Frías ML, Bertocchini F, Ros MA.
Source
Instituto de Biomedicina y Biotecnología de Cantabria, Universidad de Cantabria-CSIC-SODERCAN, C. Herrera Oria s/n, 39011 Santander, Spain.
Abstract
Sirenomelia, also known as sirenomelia sequence, is a severe malformation of the lower body characterized by fusion of the legs and a variable combination of visceral abnormalities. The causes of this malformation remain unknown, although the discovery that it can have a genetic basis in mice represents an important step towards the understanding of its pathogenesis. Sirenomelia occurs in mice lacking Cyp26a1, an enzyme that degrades retinoic acid (RA), and in mice that develop with reduced bone morphogenetic protein (Bmp) signaling in the caudal embryonic region. The phenotypes of these mutant mice suggest that sirenomelia in humans is associated with an excess of RA signaling and a deficit in Bmp signaling in the caudal body. Clinical studies of sirenomelia have given rise to two main pathogenic hypotheses. The first hypothesis, based on the aberrant abdominal and umbilical vascular pattern of affected individuals, postulates a primary vascular defect that leaves the caudal part of the embryo hypoperfused. The second hypothesis, based on the overall malformation of the caudal body, postulates a primary defect in the generation of the mesoderm. This review gathers experimental and clinical information on sirenomelia together with the necessary background to understand how deviations from normal development of the caudal part of the embryo might lead to this multisystemic malformation.
PMID 21504909
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3097451
This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial Share Alike License (http://creativecommons.org/licenses/by-nc-sa/3.0), which permits unrestricted non-commercial use, distribution and reproduction in any medium provided that the original work is properly cited and all further distributions of the work or adaptation are subject to the same Creative Commons License terms.
http://www.ncbi.nlm.nih.gov/omim?term=CYP26A1
2007
Developmental dysplasia of the hip
Lancet. 2007 May 5;369(9572):1541-52.
Dezateux C, Rosendahl K. Source Centre of Epidemiology for Child Health, Institute of Child Health, London, UK. c.dezateux@ich.ucl.ac.uk
Abstract
In its severest form, developmental dysplasia of the hip is one of the most common congenital malformations. The pathophysiology and natural history of the range of morphological and clinical disorders that constitute developmental dysplasia of the hip are poorly understood. Neonatal screening programmes, based on clinical screening examinations, have been established for more than 40 years but their effectiveness remains controversial. Whereas systematic sonographic imaging of newborn and young infants has afforded insights into normal and abnormal hip development in early life, we do not clearly understand the longer-term outcomes of developmental hip dysplasia, its contribution to premature degenerative hip disorders in adult life, and the benefits and harms of newborn screening. High quality studies of the adult outcomes of developmental hip dysplasia and the childhood origins of early degenerative hip disease are needed, as are randomised trials to assess the effectiveness and safety of neonatal screening and early treatment.
PMID 17482986
Brachydactyly
http://en.wikipedia.org/wiki/Brachydactyly
There are several types of Brachydactyly:
| Type | OMIM | Gene | Locus (genetics) | Also known as/Description |
| Type A1, BDA1 | 112500 | IHH BDA1B | 5p13.3-p13.2, 2q33-q35 | Brachydactyly type A1 or Farabee-type brachydactyly. BDA1 is an autosomal dominant inherited disease. Features include: Brachydactyly, Short or absent phalanges, Extra carpal bones, Hypoplastic or absent ulna and Short metacarpal bones. |
| Type A2, BDA2 | 112600 | BMPR1B GDF5 | 20q11.2, 4q23-q24 | Brachydactyly type A2, Brachymesophalangy II or Brachydactyly Mohr-Wriedt type. Type A2 is a very rare form of brachydactyly. The phalanges of the index fingers and second toes are shortened. |
| Type A3, BDA3 | 112700 | Brachydactyly type A3, Brachymesophalangy V or Brachydactyly-Clinodactyly. | ||
| Type A4, BDA4 | 112800 | Brachydactyly type A4, Brachymesophalangy II and V or Brachydactyly Temtamy type | ||
| Type A5, BDA5 | 112900 | Brachydactyly type A5 nail dysplasia. | ||
| Type A6, BDA6 | 112910 | Brachydactyly type A6 or Osebold-Remondini syndrome. | ||
| Type A7, BDA7 | Brachydactyly type A7 or Brachydactyly Smorgasbord type.[1] | |||
| Type B, BDB (or BDB1) | 113000 | ROR2 | 9q22 | Brachydactyly type B. |
| Type C, BDC | 113100 | GDF5 | 20q11.2 | Brachydactyly type C or Brachydactyly Haws type. |
| Type D, BDD | 113200 | HOXD13 | 2q31-q32 | Brachydactyly type D. |
| Type E, BDE | 113300 | HOXD13 | 2q31-q32 | Brachydactyly type E. |
| Type B and E | 112440 | ROR2 HOXD13 | 9q22, 2q31-q32 | Brachydactyly types B and E combined, Ballard syndrome or Pitt-Williams brachydactyly. |
| Type A1B, BDA1B | 607004 | 5p13.3-p13.2 | Brachydactyly type A1, B. |
Morphogenesis and dysmorphogenesis of the appendicular skeleton
Shum L, Coleman CM, Hatakeyama Y, Tuan RS. Birth Defects Res C Embryo Today. 2003 May;69(2):102-22. Review.
Cartilage patterning and differentiation are prerequisites for skeletal development through endochondral ossification (EO). Multipotential mesenchymal cells undergo a complex process of cell fate determination to become chondroprogenitors and eventually differentiate into chondrocytes. These developmental processes require the orchestration of cell-cell and cell-matrix interactions. In this review, we present limb bud development as a model for cartilage patterning and differentiation. We summarize the molecular and cellular events and signaling pathways for axis patterning, cell condensation, cell fate determination, digit formation, interdigital apoptosis, EO, and joint formation. The interconnected nature of these pathways underscores the effects of genetic and teratogenic perturbations that result in skeletal birth defects. The topics reviewed also include limb dysmorphogenesis as a result of genetic disorders and environmental factors, including FGFR, GLI3, GDF5/CDMP1, Sox9, and Cbfa1 mutations, as well as thalidomide- and alcohol-induced malformations. Understanding the complex interactions involved in cartilage development and EO provides insight into mechanisms underlying the biology of normal cartilage, congenital disorders, and pathologic adult cartilage.
PMID: 12955856 http://www.ncbi.nlm.nih.gov/pubmed/12955856
