Talk:Musculoskeletal System - Limb Abnormalities

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On this website the Discussion Tab or "talk pages" for a topic has been used for several purposes: References - recent and historic that relates to the topic Additional topic information - currently prepared in draft format Links - to related webpages Topic page - an edit history as used on other Wiki sites Lecture/Practical - student feedback Student Projects - online project discussions. Links: Pubmed Most Recent | Reference Tutorial | Journal Searches Glossary Links Glossary: A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | Q | R | S | T | U | V | W | X | Y | Z | Numbers | Symbols | Term Link 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

2012

Thumb duplication: concepts and techniques

Clin Orthop Surg. 2012 Mar;4(1):1-17. Epub 2012 Feb 20.

Tonkin MA. Source Department of Hand Surgery and Peripheral Nerve Surgery, University of Sydney, Royal North Shore Hospital, St. Leonards, Australia. mtonkin@surgery.usyd.edu.au

Abstract

Within the Oberg, Manske, Tonkin (OMT) classification, thumb duplications are a failure of formation and/or differentiation affecting the radial-ulnar axis of the hand plate. The Wassel description of seven types of thumb duplication provides a good structure from which an approach to management is based. The aim of surgical reconstruction is to obtain a stable, mobile thumb of adequate size and appropriate shape. The most common form of reconstruction is removal of the lesser digit and reconstruction of the dominant digit. Surgical techniques address the problems of deviation, instability and lack of size. The disadvantages of the Bilhaut-Cloquet procedure, these being joint stiffness and a nail ridge, may be lesser concerns when reconstruction of one digit will not create a satisfactory thumb of adequate mobility, stability, alignment and size. Complicated problems of triphalangism, triplication, ulnar dimelia and the rare circumstance in which neither of the duplicated thumbs may be adequately reconstructed present specific challenges which demand alternative techniques.

PMID 22379552

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3288491

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

http://omim.org/entry/602239

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.
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