A Review of the Principles of Radiological Assessment of Skeletal Dysplasias

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Abstract

There are more than 450 well-characterized skeletal dysplasias classified primarily on the basis of clinical, radiographic, and molecular criteria. In the latest 2010 revision of the Nosology and Classification of Genetic Skeletal Disorders, an increase from 372 to 456 disorders had occurred in the four years since the classification was last revisited in 2007. These entities in total represent about 5% of children with birth defects. An accurate diagnosis of a skeletal dysplasia is still based on detailed evaluation of clinical and radiographic [as well as chondro-osseous] findings. Regardless of the specific diagnosis, skeletal dysplasias in general share clinical and radiological findings helping us to group them in several ways. This review aims to outline the diagnostic approach to disproportionate short stature with special emphasis on radiological findings.

Conflict of interest:None declared.

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Nosology and Classification of Genetic Skeletal Disorders: 2010 Revision

Matthew Warman, Valerie Cormier-Daire, Christine Hall … (2011)

Genetic disorders involving the skeletal system arise through disturbances in the complex processes of skeletal development, growth and homeostasis and remain a diagnostic challenge because of their variety. The Nosology and Classification of Genetic Skeletal Disorders provides an overview of recognized diagnostic entities and groups them by clinical and radiographic features and molecular pathogenesis. The aim is to provide the Genetics, Pediatrics and Radiology community with a list of recognized genetic skeletal disorders that can be of help in the diagnosis of individual cases, in the delineation of novel disorders, and in building bridges between clinicians and scientists interested in skeletal biology. In the 2010 revision, 456 conditions were included and placed in 40 groups defined by molecular, biochemical, and/or radiographic criteria. Of these conditions, 316 were associated with mutations in one or more of 226 different genes, ranging from common, recurrent mutations to “private” found in single families or individuals. Thus, the Nosology is a hybrid between a list of clinically defined disorders, waiting for molecular clarification, and an annotated database documenting the phenotypic spectrum produced by mutations in a given gene. The Nosology should be useful for the diagnosis of patients with genetic skeletal diseases, particularly in view of the information flood expected with the novel sequencing technologies; in the delineation of clinical entities and novel disorders, by providing an overview of established nosologic entities; and for scientists looking for the clinical correlates of genes, proteins and pathways involved in skeletal biology. © 2011 Wiley-Liss, Inc.

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The birth prevalence rates for the skeletal dysplasias.

Eduardo Castilla, Gunter Hans-Filhio, Iêda M Orioli (1986)

This study was undertaken to establish the prevalence rates at birth of the skeletal dysplasias that can be recognised in the perinatal period. Using the data base of the Latin-American Collaborative Study of Congenital Malformations (ECLAMC), for the years 1978 to 1983, on 349 470 births (live and stillbirths), a crude prevalence rate of 2.3/10 000 was observed. However, several indications of under-registration suggest that the real value is about twice that observed. The most frequent types of skeletal dysplasia were achondroplasia, with a prevalence rate between 0.5 and 1.5/10 000 births, the thanatophoric dysplasia/achondrogenesis group (0.2 and 0.5/10 000 births), and osteogenesis imperfecta (0.4/10 000 births). The mutation rate for autosomal dominant achondroplasia was estimated at between 1.72 and 5.57 X 10(-5) per gamete per generation.

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The skeletal dysplasias.

Deborah Krakow, David L Rimoin (2010)

The skeletal dysplasias (osteochondrodysplasias) are a heterogeneous group of more than 350 disorders frequently associated with orthopedic complications and varying degrees of dwarfism or short stature. These disorders are diagnosed based on radiographic, clinical, and molecular criteria. The molecular mechanisms have been elucidated in many of these disorders providing for improved clinical diagnosis and reproductive choices for affected individuals and their families. An increasing variety of medical and surgical treatment options can be offered to affected individuals to try to improve their quality of life and lifespan.

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Author and article information

Journal

Journal ID (nlm-ta): J Clin Res Pediatr Endocrinol

Journal ID (publisher-id): JCRPE

Title: Journal of Clinical Research in Pediatric Endocrinology

Publisher: Galenos Publishing

ISSN (Print): 1308-5727

ISSN (Electronic): 1308-5735

Publication date (Print): December 2011

Publication date (Electronic): 6 December 2011

Volume: 3

Issue: 4

Pages: 163-178

Affiliations

[1 ] Pediatric Genetics Unit, Department of Pediatrics, Faculty of Medicine, Acibadem University, Istanbul, Turkey

[2 ] Professor Emeritus of Radiological Sciences and Pediatrics, UCLA School of Medicine, Los Angeles, California, Clinical Professor, Stanford University, Stanford CA, USA

[3 ] International Skeletal Dysplasia Registry, Genetics Institute, Cedars-Sinai Medical Center, Los Angeles, California, USA

+90 212 304 44 44 yalanay@ 123456gmail.com Acıbadem University Faculty of Medicine, Department of Pediatrics, Pediatric Genetics Unit, Istanbul, Turkey

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Publisher Item ID: 122

DOI: 10.4274/jcrpe.463

PMC ID: 3245489

PubMed ID: 22155458

SO-VID: 3b6792da-0348-43c3-9aa0-f90d87128988

License:

This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

A Review of the Principles of Radiological Assessment of Skeletal Dysplasias

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Chinese Journal of Radiological Health

Most cited references 8

Nosology and Classification of Genetic Skeletal Disorders: 2010 Revision

The birth prevalence rates for the skeletal dysplasias.

The skeletal dysplasias.

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