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

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