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Bone Abstracts (2013) 1 S3.1 | DOI: 10.1530/boneabs.1.S3.1

ECTS2013 Main Symposium Extreme bone phenotypes (2 abstracts)

Diagnosis and clinical management of genetic skeletal disorders

Yasemin Alanay


Pediatric Genetics Unit, Department of Pediatrics, Acibadem University, Istanbul, Turkey.


Today, there are more than 450 well-characterized genetic skeletal disorders classified primarily on the basis of clinical, radiographic, and molecular criteria. Although individually rare, the overall birth incidence is estimated to be 1/5000 live births. Half a century ago, in the 1960s, individuals with disproportionate short stature were diagnosed either with achondroplasia (short-limbed dwarfism) or Morquio syndrome (short-trunked dwarfism). In time, delineation of numerous entities not fitting these two ‘disorders’ led experts to come up with a systematic approach. The ‘International Nomenclature of Constitutional Diseases of Bone’ group first published in 1970 and has intermittently classified these disorders (1970–1977–1983–1992–2001–2005–2009). In the 1970s the categories were purely clinical and descriptive. This later evolved into a combination of clinical, radiological, and molecular knowledge as the pathogenetic mechanisms of various entities have been revealed. In the latest 2010 revision of the Nosology and Classification of Genetic Skeletal Disorders, an increase from 372 to 456 disorders in the four years since the classification was last revisited in 2007. Of these conditions, 316 are associated with one or more of 226 different genes. This increase reflects the continuing delineation of unique phenotypes among short stature conditions, which in aggregate represent about 5% of children with birth defects.

In daily practice however, clinicians dealing with patients with short stature may be confused with the molecular listings. It is therefore important to remember that an accurate diagnosis of a genetic disorder of skeleton is still based on detailed evaluation of clinical and radiographic (as well as chondro-osseous) findings. This lecture aims to outline the diagnostic approach to disproportionate short stature with emphasis dysmorphic features and radiological findings.

Volume 1

European Calcified Tissue Society Congress 2013

Lisbon, Portugal
18 May 2013 - 22 May 2013

European Calcified Tissue Society 

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