WordNet
- a form of dwarfism accompanied by fragile bones and bad teeth
Wikipedia preview
出典(authority):フリー百科事典『ウィキペディア(Wikipedia)』「2016/06/24 16:15:16」(JST)
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Dysostosis |
Classification and external resources |
Specialty |
medical genetics |
DiseasesDB |
31424 |
MeSH |
D004413 |
[edit on Wikidata]
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A dysostosis is a disorder of the development of bone, in particular affecting ossification.[1]
Examples include craniofacial dysostosis, Klippel-Feil syndrome, and Rubinstein-Taybi syndrome.
It is one of the two categories of constitutional disorders of bone (the other being osteochondrodysplasia).[2]
When the disorder involves the joint between two bones, the term synostosis is often used.
References
- ^ "dysostosis" at Dorland's Medical Dictionary[dead link]
- ^ Offiah AC, Hall CM (March 2003). "Radiological diagnosis of the constitutional disorders of bone. As easy as A, B, C?". Pediatr Radiol 33 (3): 153–61. doi:10.1007/s00247-002-0855-8. PMID 12612812.
Congenital malformations and deformations of musculoskeletal system / musculoskeletal abnormality (Q65–Q76, 754–756.3)
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Appendicular
limb / dysmelia |
Arms |
clavicle / shoulder: |
- Cleidocranial dysostosis
- Sprengel's deformity
- Wallis–Zieff–Goldblatt syndrome
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hand deformity: |
- Madelung's deformity
- Clinodactyly
- Oligodactyly
- Polydactyly
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Leg |
hip: |
- Dislocation of hip / Hip dysplasia
- Upington disease
- Coxa valga
- Coxa vara
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knee: |
- Genu valgum
- Genu varum
- Genu recurvatum
- Discoid meniscus
- Congenital patellar dislocation
- Congenital knee dislocation
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foot deformity: |
- varus
- valgus
- Pes cavus
- Rocker bottom foot
- Hammer toe
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Either / both |
fingers and toes |
- Polydactyly / Syndactyly
- Arachnodactyly
- Cenani–Lenz syndactylism
- Ectrodactyly
- Brachydactyly
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reduction deficits / limb: |
- Acheiropodia
- ectromelia
- Phocomelia
- Amelia
- Hemimelia
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multiple joints: |
- Arthrogryposis
- Larsen syndrome
- Rapadilino syndrome
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Axial |
Skull and face |
Craniosynostosis: |
- Scaphocephaly
- Oxycephaly
- Trigonocephaly
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Craniofacial dysostosis: |
- Crouzon syndrome
- Hypertelorism
- Hallermann–Streiff syndrome
- Treacher Collins syndrome
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other: |
- Macrocephaly
- Platybasia
- Craniodiaphyseal dysplasia
- Dolichocephaly
- Greig cephalopolysyndactyly syndrome
- Plagiocephaly
- Saddle nose
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Vertebral column |
- spinal curvature
- Klippel–Feil syndrome
- Spondylolisthesis
- Spina bifida occulta
- Sacralization
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Thoracic skeleton |
ribs: |
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sternum: |
- Pectus excavatum
- Pectus carinatum
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UpToDate Contents
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English Journal
- Manifestation and treatment in a cleidocranial dysplasia patient with a RUNX2 (T420I) mutation.
- Lee C1, Jung HS1, Baek JA1, Leem DH1, Ko SO1.
- Maxillofacial plastic and reconstructive surgery.Maxillofac Plast Reconstr Surg.2015 Nov 12;37(1):41. eCollection 2015.
- Cleidocranial dysplasia is an autosomal dominant heritable skeletal disorder. The characteristic features of cleidocranial dysplasia (CCD) may include hypoplasia of the clavicle, delayed closure of frontanelles, late tooth eruption, and other skeletal disorders. This case report describes clinical a
- PMID 26594640
- [Hearing rehabilitation in Treacher Collins Syndrome with bone anchored hearing aid].
- Polanski JF1, Plawiak AC2, Ribas A3.
- Revista paulista de pediatria : orgão oficial da Sociedade de Pediatria de São Paulo.Rev Paul Pediatr.2015 Dec;33(4):483-7. doi: 10.1016/j.rpped.2015.01.010. Epub 2015 Aug 1.
- OBJECTIVE: To describe a case of hearing rehabilitation with bone anchored hearing aid in a patient with Treacher Collins syndrome.CASE DESCRIPTION: 3 years old patient, male, with Treacher Collins syndrome and severe complications due to the syndrome, mostly related to the upper airway and hearing.
- PMID 26298651
- Russel-Silver syndrome: A historical note and comment on an older adult.
- Searle C1, Johnson D2.
- American journal of medical genetics. Part A.Am J Med Genet A.2015 Nov 3. doi: 10.1002/ajmg.a.37442. [Epub ahead of print]
- Five cases of recognizable "Intra-uterine" dwarfism with cranio-facial dysostosis, disproportionately short arms, and other anomalies were written up by endocrinologist, Dr. Alex Russell in 1954. The syndrome he described went on to be named Russell-Silver syndrome. This report gives further informa
- PMID 26525433
Japanese Journal
- 西村 敏,永木 茂,大和田 操 [他],大澤 眞木子
- 東京女子医科大学雑誌 83(E1), E291-E295, 2013-01-31
- I-cell病(ムコリピドーシスII型)は、ライソゾーム酵素の異常に基づく稀な先天代謝異常症で、常染色体劣性遺伝を示す。乳児期にムコ多糖症様の臨床症状、すなわち、特異な顔貌、多発性骨形成不全や精神運動発達遅滞などを呈するが、尿中ムコ多糖の排泄増加は認められない。浅黒い皮膚の色をしたムコ多糖症に比べ白色の皮膚をして、歯肉の著しい増殖が特徴である。リンパ球には空胞化が、繊維芽細胞には病名の由来となった …
- NAID 110009559428
- 耳小骨奇形に対して鼓室形成術を施行した Treacher Collins 症候群の家族内発生例
- 阿部 純子,長谷川 賢作,山崎 愛語,矢間 敬章,國本 泰臣,北野 博也
- Otology Japan 22(5), 827-832, 2012-12-25
- Treacher Collins症候群はmandibulofacialdysostosis (顎顔面形成不全) とも呼ばれ、第1鰓弓および第2鰓弓由来の先天性奇形症候群である。常染色体優性遺伝疾患であるが、突然変異も多く、その約60%が単発例とされている。High-resolution computed tomography (HRCT) を使用したJahrsdoerfer分類を基に手術適応を判断 …
- NAID 10031145236
- 3D/4D超音波法が有用であった Nager 症候群の出生前診断症例
- 宮崎 顕,吉田 加奈,古橋 円,石川 薫
- Japanese journal of medical ultrasonics = 超音波医学 39(3), 285-289, 2012-05-15
- NAID 10030745297
Related Links
- dysostosis 【名】《病理》異骨症 - アルクがお届けする進化するオンライン英和・和英辞書データベース。一般的な単語や連語から、イディオム、専門用語、スラングまで幅広く収録。
- dysostosis [dis″os-to´sis] defective ossification; a defect in the normal ossification of fetal cartilages. cleidocranial dysostosis an autosomal dominant condition in which there is defective ossification of the cranial bones, complete or ...
Related Pictures
★リンクテーブル★
[★]
- 英
- dysostosis
- 関
- 骨形成不全
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- 英
- dysostosis
- 関
- 異骨症
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濃化異骨症
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- pyknodysostosis
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多発性骨端異形成症