skeletal dysplasia

WordNet

1. of or relating to or forming or attached to a skeleton; "the skeletal system"; "skeletal bones"; "skeletal muscles"
2. abnormal development (of organs or cells) or an abnormal structure resulting from such growth

PrepTutorEJDIC

1. 骨格に;がい骨の;がい骨のような

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/08/04 14:58:56」(JST)

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Osteochondrodysplasia
Classification and external resources
Specialty	medical genetics
ICD-10	Q77-Q78
DiseasesDB	34854
Patient UK	Osteochondrodysplasia
MeSH	D010009

Osteochondrodysplasia is a general term for a disorder of the development (dysplasia) of bone ("osteo") and cartilage ("chondro").

Types

Achondroplasia

Main article: Achondroplasia

Achondroplasia is a type of autosomal dominant genetic disorder that is a common cause of dwarfism. Achondroplastic dwarfs have short stature, with an average adult height of 131 cm (4 feet, 3.8 inches) for males and 123 cm (4 feet, 0.6 inches) for females.

The prevalence is approximately 1 in 25,000.

Cleidocranial dysostosis

Main article: Cleidocranial dysostosis

Cleidocranial dysostosis is a general skeletal condition named for the collarbone (cleido-) and cranium deformities which people with it often have. Common features include:

• Partly or completely missing collarbones.
• A soft spot or larger soft area in the top of the head where the fontanelle failed to close.
• Bones and joints are underdeveloped.
• The permanent teeth include supernumerary teeth.
• Permanent teeth not erupting
• Bossing (bulging) of the forehead.
• Hypertelorism

Fibrous dysplasia

Main article: Fibrous dysplasia

Fibrous dysplasia causes bone thinning and growths or lesions in one or more bones of the human body.

These lesions are tumor-like growths that consist of replacement of the medullary bone with fibrous tissue, causing the expansion and weakening of the areas of bone involved. Especially when involving the skull or facial bones, the lesions can cause externally visible deformities. The skull is often, but not necessarily, affected, and any other bone(s) can be involved.

Langer-Giedion syndrome

Main article: Langer-Giedion syndrome

Langer-Giedion syndrome is a very rare genetic disorder caused by a deletion of chromosomal material. Diagnosis is usually made at birth or in early childhood.

The features associated with this condition include mild to moderate learning difficulties, short stature, unique facial features, small head and skeletal abnormalities including bony growths projecting from the surfaces of bones.

Maffucci syndrome

Main article: Maffucci syndrome

Maffucci syndrome is a sporadic disease characterized by the presence of multiple enchondromas associated with multiple simple or cavernous soft tissue hemangiomas. Also lymphangiomas may be apparent.

Patients are normal at birth and the syndrome manifests during childhood and puberty. The enchondromas affect the extremities and their distribution is asymmetrical.

Osteosclerosis

Main article: Osteosclerosis

Osteosclerosis, an elevation in bone density, is normally detected on an X-ray as an area of whiteness, and is where the bone density has significantly increased. Localized osteosclerosis can be caused by injuries that compress the bone, by osteoarthritis, and osteoma.

Other

• Deformity type Erlenmeyer flask gives a distal femur similar to an Erlenmeyer flask. It may result from Gaucher disease.
• Kashin–Beck disease
• Melnick–Needles syndrome
• Ovine chondrodysplasia

References

UpToDate Contents

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• 1. 致死的骨格形成異常の出生前診断 prenatal diagnosis of the lethal skeletal dysplasias
• 2. 低身長の原因 causes of short stature
• 3. 内反膝の小児に対するアプローチ approach to the child with bow legs
• 4. 児童虐待の整形外科的症状の鑑別診断 differential diagnosis of the orthopedic manifestations of child abuse
• 5. 幼児および小児における巨頭症：病因および評価 macrocephaly in infants and children etiology and evaluation

English Journal

• Rapid Detection of Common Mutations of the FGFR3 Gene Causing Thanatophoric Dysplasia Type I: Two Case Reports.

• Yang Y, Liu YN, Li DZ.SourceDepartment of Obstetrics and Gynecology , and.
• Fetal and pediatric pathology.Fetal Pediatr Pathol.2012 Jun;31(3):128-33. Epub 2012 Mar 13.
• Thanatophoric dysplasia (TD) is a relatively common lethal skeletal dysplasia. These malformations result from the mutations in fibroblast growth factor receptor 3 (FGFR3) gene, which is located on the short arm of chromosome 4. Accurate diagnosis of fetal TD is important for patient counseling and
• PMID 22414243

• Correction of knee deformity in patients with Ellis-van Creveld syndrome: A case report and review of the literature.

• Jöckel JA, Reichel H, Nelitz M.SourceDepartment of Orthopaedic Trauma, University of Ulm, Steinhoevelstr. 9, 89075 Ulm, Germany.
• The Knee.Knee.2012 Jun;19(3):218-22. Epub 2011 Apr 5.
• Ellis-van Creveld Syndrome (EVC) is a rare autosomal recessive disorder. In 1940 Richard W. Ellis and Simon van Creveld first reported on a rare skeletal dysplasia, which to emphasize the main clinical characteristics, was termed "chondro-ectodermal dysplasia". The ectodermal involvement includes th
• PMID 21470865

Japanese Journal

• 骨疾患の遺伝子解析 (骨疾患)

• 池川 志郎
• 臨床検査 55(13), 1517-1522, 2011-12
• NAID 40019080056

Related Links

• Skeletal Dysplasia | Definition and Patient Education

Skeletal dysplasia is the medical term for what most people refer to as “dwarfism”. The term is an umbrella for a group of hundreds of conditions affecting bone and cartilage growth.

• Skeletal Dysplasia - Diseases & Conditions - Medscape ...

Skeletal Dysplasia. Dwarfism is a commonly used term for disproportionately short stature, although a more medically appropriate term for this disorder is skeletal dysplasia. ... Until skeletal maturity, cartilage persists at ...

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関連記事	「skeletal」

「skeletal」

　　[★]

• adj.

• 骨格の、骸骨の(ような)

関

scaffold, skeleton