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Achondroplasia, Disproportionate short stature
[OCOSH Code: D000130 86268005 Q77.4 bd_dbd_dwf_ac]

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achondroplasia

Location: http://chorus.rad.mcw.edu/doc/01026.html

achondroplasia most common type of short limbed dwarfism; caused by defect in enchondral bone formation => shortening of tubular bones with normal shaft caliber
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Achondroplasia

Location: http://myweb.lsbu.ac.uk/dirt/museum/458-1521.html

Clinical presentation:
A patient with short limbs. no history available.
* Features in images
* Diagnosis
* Differential Similar appearances to this image.
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Achondroplasia

Location: http://www.ncbi.nlm.nih.gov/books/bv.fcgi?rid=gnd.section.256&ref=sidebar

Achondroplasia is a Greek word meaning "without cartilage formation" and is one of the most common causes of dwarfism. The appearance is of short stature with disproportionately short arms and legs and a large head. The characteristic facial features include a prominent forehead and a flattened bridge of the nose. Although...
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Achondroplasia eMedicine Orthopedics

Location: http://www.emedicine.com/orthoped/topic4.htm

Synonyms and related keywords: rhizomelic dwarfism, short-limb dwarfism, short-trunk dwarfism, chondrodystrophia fetalis, classic chondrodystrophy, dyschondroplasia fetalis, chondrodysplasia, micromelia, skeletal dysplasia, little people, achondroplastic, skeletal dysplasia
Author: Shital Parikh, MBBS, MS, Consulting Staff, Department of Orthopedics, Buchanan General Hospital
Coauthor: Preeti Batra, MBBS, MD, Staff Physician, Department of Radiology, VS Hospital, India
Achondroplasia is...
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Achondroplasia MedlinePlus

Location: http://www.nlm.nih.gov/medlineplus/ency/article/001577.htm

Achondroplasia is an inherited disorder of bone growth. It is one of the group of disorders that are collectively called chondrodystrophies or osteochondrodysplasias. The disorder causes a type of dwarfism that is recognized by a characteristic normal- to large-sized head, shortened arms and legs (especially the upper arm and thigh), a...
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Achondroplasia PatientPlus

Location: http://www.patient.co.uk/showdoc/40001123/

Achondroplasia is the most frequent form of short-limb dwarfism. As well as short stature due to shortening of limbs, affected individuals have characteristic facies with frontal bossing and mid-face hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension and genu varum and trident hands. Incidence increases with paternal age. Achondroplasia is...
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Achondroplasia POSNA Study Guide

Location: http://www.posna.org/education/StudyGuide/achondroplasia.asp

Objectives
1. Describe the genetics and pathophysiology of achondroplasia
2. Describe the clinical features of achondroplasia in the newborn and in the older child
3. Describe spinal problems associated with achondroplasia
4. Discuss indications for lengthening in achondroplasia
5. Discuss...
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Achondroplasia Wikibooks

Location: http://en.wikibooks.org/wiki/Diagnostic_Radiology/Musculoskeletal_Imaging/Dysplasia_Basic/Achondropl ...

Diagnostic Radiology/Musculoskeletal Imaging/Dysplasia Basic/Achondroplasia From Wikibooks, the open-content textbooks collection 1 Definition 2 Etiology 3 Clinical Features 4 Radiologic Findings 5 References Definition Achondroplasia is a common nonlethal form of chondrodysplasia. It is transmitted as an autosomal dominant trait with complete penetrance. De novo mutations cause 75-80% of cases. The mutation rate is...
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Achondroplasia Wikipedia

Location: http://en.wikipedia.org/wiki/Achondroplasia

Achondroplasia is a type of genetic disorder that is a common cause of dwarfism. People with this condition have short stature, usually reaching a full adult height of around 4'0" (1.2 metres).
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Genes and You Genetic Disorders Acholdroplasia

Location: http://www.gig.org.uk/genesandyou_achondroplasia.htm

WHAT IS ACHONDROPLASIA? Achondroplasia (pronounced ay-kon-dro-play-zha) is a genetic condition in which a person is of very short stature because of restricted growth of bones and cartilage. Some conditions which cause restricted growth affect the whole body equally, but the growth of a person with Achondroplasia is 'disproportionate' (i.e. unequal)...
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Patient Guide to Achondroplasia

Location: http://www.hopkinsmedicine.org/orthopedicsurgery/achondroplasia.html

" Dyplasia" means abnormal development. "Achondroplasia" refers to the abnormal development of cartilage ("chondro"). Because the skeleton develops by the ossification of cartilage, this leads to an abnormal development of the bones, most commonly causing them to be much shorter than normal. Achondroplasia is the most common of all skeletal dysplasias.... Expert
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Radiology Cases Achondroplasia

Location: http://myweb.lsbu.ac.uk/dirt/museum/p4-1521.html

Achondroplasia is the commonest disproportionate dwarfism. It is inherited as an autosomal dominent. 85% of case incidence is from a spontaneous mutation. The main feature is a symmetrical proximal limb shortening, rhizomelia, the humeri and femora are particularly affected. Metaphyseal irregularity takes the form of cupping or a 'V' shaped...
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Thoracolumbar Spinal Deformity in Achondroplasia

Location: http://www.medscape.com/viewarticle/448308_1

from Neurosurgical Focus Posted 02/19/2003 Sanjay N. Misra, M.D., Howard W. Morgan, M.D.
Abstract The authors review the management of thoracolumbar kyphotic deformity in cases of achondroplasia. The presence of angular thoracolumbar kyphosis in achondroplasia is well recognized. In children this is initially a nonfixed deformity that persists, however, in more than 10% of...
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View Details Visit Resource Review It Rate It Bookmark It Added: Thu Jul 19 2007