四肢末端短縮症
WordNet
- abnormal development (of organs or cells) or an abnormal structure resulting from such growth
Wikipedia preview
出典(authority):フリー百科事典『ウィキペディア(Wikipedia)』「2016/04/22 20:08:49」(JST)
[Wiki en表示]
Acromesomelic dysplasia is a rare skeletal disorder that causes abnormal bone and cartilage development, leading to shortening of the forearms, lower legs, hands, feet, fingers, and toes. Five different genetic mutations have been implicated. Treatment is individualized but is generally aimed at palliating symptoms, for example, treatment of kyphosis and lumbar hyperlordosis.[1]
References
- ^ "Acromesomelic Dysplasia - NORD (National Organization for Rare Disorders)". Retrieved 2015-09-19.
UpToDate Contents
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English Journal
- Characterization of an acromesomelic dysplasia, Grebe type case: novel mutation affecting the recognition motif at the processing site of GDF5.
- Martinez-Garcia M1, Garcia-Canto E, Fenollar-Cortes M, Aytes AP, Trujillo-Tiebas MJ.
- Journal of bone and mineral metabolism.J Bone Miner Metab.2015 Aug 15. [Epub ahead of print]
- Acromesomelic dysplasia, Grebe type is a very rare skeletal dysplasia characterized by severe dwarfism with marked micromelia and deformation of the upper and lower limbs, with a proximodistal gradient of severity. CDMP1 gene mutations have been associated with Grebe syndrome, Hunter-Thompson syndro
- PMID 26275437
- Homozygous sequence variants in the NPR2 gene underlying Acromesomelic dysplasia Maroteaux type (AMDM) in consanguineous families.
- Irfanullah1, Umair M1, Khan S2, Ahmad W1.
- Annals of human genetics.Ann Hum Genet.2015 Jul;79(4):238-44. doi: 10.1111/ahg.12116. Epub 2015 May 11.
- Acromesomelic dysplasia Maroteaux type (AMDM) is an autosomal recessive skeletal disorder characterized by disproportionate short stature with shortening of the acromesomelic sections of the limbs. AMDM is caused by mutations in the NPR2 gene located on chromosome 9p21-p12. The gene encodes the natr
- PMID 25959430
- A hypomorphic BMPR1B mutation causes du Pan acromesomelic dysplasia.
- Stange K1,2, Désir J3, Kakar N4, Mueller TD5, Budde BS6, Gordon CT7,8, Horn D9, Seemann P1,2, Borck G10.
- Orphanet journal of rare diseases.Orphanet J Rare Dis.2015 Jun 24;10:84. doi: 10.1186/s13023-015-0299-5.
- BACKGROUND: Grebe dysplasia, Hunter-Thompson dysplasia, and du Pan dysplasia constitute a spectrum of skeletal dysplasias inherited as an autosomal recessive trait characterized by short stature, severe acromesomelic shortening of the limbs, and normal axial skeleton. The majority of patients with t
- PMID 26105076
Japanese Journal
- Management of general anesthesia for a patient with Maroteaux type acromesomelic dysplasia complicated with obstructive sleep apnea syndrome and hereditary myopathy
- Translational research of C-type natriuretic peptide (CNP) into skeletal dysplasias
- Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux
Related Links
- Acromesomelic dysplasia describes a group of extremely rare, inherited, progressive skeletal conditions that result in a particular form of short stature, called short-limb dwarfism. The short stature is the result of unusually short ...
- Acromesomelic dysplasia is an extremely rare, inherited, progressive skeletal disorder that results in a particular form of short stature known as short-limb dwarfism. The disorder is characterized by acromelia and mesomelia.
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- 英
- acromesomelic dysplasia