四肢短小症
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出典(authority):フリー百科事典『ウィキペディア(Wikipedia)』「2014/12/01 04:55:59」(JST)
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Piglet with dipygus at Ukrainian National Chernobyl Museum in Kiev
Dysmelia (from Gr. δυσ- dys, "bad" + μέλ|ος mél|os, "limb" + Eng. suff. -ia) is a congenital disorder of a limb resulting from a disturbance in embryonic development.
Contents
- 1 Types
- 2 Occurrence rate
- 3 Causes
- 4 References
- 5 External links
Types
Dysmelia can refer to
- missing (aplasia) limbs: amelia, oligodactyly, congenital amputation
- malformation of limbs: ectrodactyly, phocomelia, meromelia, syndactyly, brachydactyly, club foot
- too many limbs: polymelia, polydactyly, polysyndactyly
Occurrence rate
Birth defects involving limbs occur in 1 per 1000.[citation needed]
Causes
Dysmelia can be caused by
- inheritance of abnormal genes, e.g. polydactyly, ectrodactyly or brachydactyly, symptoms of deformed limbs then often occur in combination with other symptoms (syndromes)
- external causes during pregnancy (thus not inherited), e.g. via amniotic band syndrome
- teratogenic drugs (e.g. thalidomide, which causes phocomelia) or environmental chemicals
- ionizing radiation (nuclear weapons, radioiodine, radiation therapy)
- infections
- metabolic imbalance
References
External links
- DysNet: An organisation for people affected by Dysmelia (congenital limb difference)
- Reach: Association for Children with Upper Limb Deficiency)
Congenital malformations and deformations of musculoskeletal system / musculoskeletal abnormality (Q65–Q76, 754–756.3)
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Appendicular
limb / dysmelia |
Upper |
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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Lower |
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 |
dactyly / digit: |
- Polydactyly / Syndactyly
- Arachnodactyly
- Cenani–Lenz syndactylism
- Ectrodactyly
- Brachydactyly
|
|
reduction deficits / limb: |
- Acheiropodia
- ectromelia
- Phocomelia
- Amelia
- Hemimelia
|
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multiple joints: |
- Arthrogryposis
- Larsen syndrome
- Rapadilino syndrome
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Axial |
Craniofacial |
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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noco (arth/defr/back/soft)/cong, sysi/epon, injr
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UpToDate Contents
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English Journal
- Dyssegmental dysplasia, Silverman-Handmaker type: A challenging antenatal diagnosis in a dizygotic twin pregnancy.
- Basalom S1, Trakadis Y1, Shear R2, Azouz ME3, De Bie I1.
- Molecular genetics & genomic medicine.Mol Genet Genomic Med.2018 May;6(3):452-456. doi: 10.1002/mgg3.379. Epub 2018 Mar 11.
- PMID 29526034
- [Prenatally diagnosed case of Pallister‒Killian syndrome].
- Tidrenczel Z1, P Tardy E1, Sarkadi E1, Simon J2, Beke A3, Demeter J1.
- Orvosi hetilap.Orv Hetil.2018 May;159(21):847-852. doi: 10.1556/650.2018.31015.
- PMID 29779390
- Discordant fetal phenotype of hypophosphatasia in two siblings.
- Ikenoue S1, Miyakoshi K1, Ishii T2, Sato Y1, Otani T1, Akiba Y1, Kasuga Y1, Ochiai D1, Matsumoto T1, Ichihashi Y2, Matsuzaki Y2, Tachikawa K3, Michigami T3, Nishimura G4, Ikeda K2,5, Hasegawa T2, Tanaka M1.
- American journal of medical genetics. Part A.Am J Med Genet A.2018 Jan;176(1):171-174. doi: 10.1002/ajmg.a.38531. Epub 2017 Nov 21.
- PMID 29160033
Japanese Journal
- 渡邊 敏明
- ビタミン 84(7), 301-312, 2010
- … Maternal baltin deficiency during gestation produces external malformations such as cleft palate, micromelia and micrognathia in mice. … On the other hand, excessive biotin intake during gestation induced many kinds of external malformations such as micrognathia, micromelia and edema in mouse fetuses. …
- NAID 110007682285
- 発生や疾患を制御する多機能細胞外マトリックス, パールカンの機能解明
- 平澤 (有川) 恵理
- 順天堂医学 54(1), 25-28, 2008
- ノックアウトマウスの作成, 解析により, 基底膜型のヘパラン硫酸プロテオグリカンであるパールカンの発生や疾患における多機能性が示された. また, 遺伝子解析から2つの予後の異なる疾患がパールカン遺伝子変異による疾患として同定された. 今後, 動脈硬化や糖尿病などの疾患においてもパールカンの役割が解明されていくと考えられる.
- NAID 130004716445
- 発生や疾患を制御する多機能細胞外マトリックス,パールカンの機能解明 (特集 医学研究のUP-TO-DATE)
- 平澤 (有川) 恵理
- 順天堂医学 54(1), 25-28, 2008
- ノックアウトマウスの作成,解析により,基底膜型のヘパラン硫酸プロテオグリカンであるパールカンの発生や疾患における多機能性が示された.また,遺伝子解析から2つの予後の異なる疾患がパールカン遺伝子変異による疾患として同定された.今後,動脈硬化や糖尿病などの疾患においてもパールカンの役割が解明されていくと考えられる.
- NAID 110007125189
Related Links
- micromelia. 0.01 sec. mi·cro·me·li·a (m kr -m l - , -m l y ). n. Abnormal shortness or smallness of limbs. Also called nanomelia. mi cro·mel ic (-m l k, -m l k) adj. micromelia [mi″kro-me´le-ah]. abnormal smallness of one or more limbs. micromelia ...
Related Pictures
★リンクテーブル★
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- 英
- micromelia
- 同
- 小肢症