点状軟骨異形成症
- 関
- Conradi-Hunermann syndrome
Wikipedia preview
出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2013/08/12 16:44:31」(JST)
[Wiki en表示]
| Chondrodysplasia punctata |
| Classification and external resources |
| ICD-10 |
Q77.3 |
| DiseasesDB |
32527 31410 34567 |
| MeSH |
D002806 |
Chondrodysplasia punctata is a clinically and genetically diverse group of rare diseases, first described by Conradi, that share the features of stippled epiphyses and skeletal changes.[1]:500[2]:549
Types include:
- Rhizomelic chondrodysplasia punctata 215100, 222765, 600121
- X-linked recessive chondrodysplasia punctata 302950
- Conradi-Hünermann syndrome 302960
- Autosomal dominant chondrodysplasia punctata 118650
See also[edit source | edit]
- List of cutaneous conditions
- List of radiographic findings associated with cutaneous conditions
References[edit source | edit]
- ^ Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.
- ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
|
Osteochondrodysplasia (Q77–Q78, 756.4–756.5)
|
|
Osteodysplasia/
osteodystrophy |
|
Diaphysis
|
Camurati-Engelmann disease
|
|
|
Metaphysis
|
Metaphyseal dysplasia · Jansen's metaphyseal chondrodysplasia · Schmid metaphyseal chondrodysplasia
|
|
|
Epiphysis
|
Spondyloepiphyseal dysplasia congenita · Multiple epiphyseal dysplasia · Otospondylomegaepiphyseal dysplasia
|
|
|
Osteosclerosis
|
Raine syndrome · Osteopoikilosis · Osteopetrosis
|
|
|
Other/ungrouped
|
FLNB (Boomerang dysplasia) · Opsismodysplasia · Polyostotic fibrous dysplasia (McCune-Albright syndrome)
|
|
|
Chondrodysplasia/
chondrodystrophy
(including dwarfism) |
|
Osteochondroma
|
osteochondromatosis (Hereditary multiple exostoses)
|
|
|
Chondroma/enchondroma
|
enchondromatosis (Ollier disease, Maffucci syndrome)
|
|
|
Growth factor receptor
|
FGFR2: Antley-Bixler syndrome
FGFR3: Achondroplasia (Hypochondroplasia) · Thanatophoric dysplasia
|
|
|
COL2A1 collagen disease
|
Achondrogenesis (type 2) · Hypochondrogenesis
|
|
|
SLC26A2 sulfation defect
|
Achondrogenesis (type 1B) · Recessive multiple epiphyseal dysplasia · Atelosteogenesis, type II · Diastrophic dysplasia
|
|
|
Chondrodysplasia punctata
|
Rhizomelic chondrodysplasia punctata · Conradi-Hünermann syndrome
|
|
|
Other dwarfism
|
Fibrochondrogenesis · Short rib-polydactyly syndrome (Majewski's polydactyly syndrome) · Léri-Weill dyschondrosteosis
|
|
|
|
|
anat (c/f/k/f, u, t/p, l)/phys/devp/cell
|
noco/cong/tumr, sysi/epon, injr
|
|
|
|
|
UpToDate Contents
全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.
English Journal
- The importance of ether-phospholipids: A view from the perspective of mouse models.
- da Silva TF, Sousa VF, Malheiro AR, Brites P.SourceNerve Regeneration Group, Instituto de Biologia Molecular e Celular, Porto, Portugal; Instituto de Ciências Biomédicas Abel Salazar, University of Porto, Porto, Portugal.
- Biochimica et biophysica acta.Biochim Biophys Acta.2012 Sep;1822(9):1501-8. Epub 2012 May 31.
- Ether-phospholipids represent an important group of phospholipids characterized by an alkyl or an alkenyl bond at the sn-1 position of the glycerol backbone. Plasmalogens are the most abundant form of alkenyl-glycerophospholipids, and their synthesis requires functional peroxisomes. Defects in the b
- PMID 22659211
- Functions of plasmalogen lipids in health and disease.
- Braverman NE, Moser AB.SourceDepartment of Human Genetics and Pediatrics, McGill University-Montreal Childrens Hospital Research Institute, 4060 Ste-Catherine West, PT-406.2, Montreal, QC, Canada H3Z 2Z3.
- Biochimica et biophysica acta.Biochim Biophys Acta.2012 Sep;1822(9):1442-52. Epub 2012 May 22.
- Plasmalogens are a unique class of membrane glycerophospholipids containing a fatty alcohol with a vinyl-ether bond at the sn-1 position, and enriched in polyunsaturated fatty acids at the sn-2 position of the glycerol backbone. These two features provide novel properties to these compounds. Althoug
- PMID 22627108
Japanese Journal
- 生後より鼻閉,呼吸困難を呈した男児 (特集 症例に学ぶ--小児放射線カンファレンス) -- (頭頸部)
- X-linked chondorodysplasia punctata (Conradi-Hunermann-Happle type) の1女児例
- 船田 裕昭,美野 陽一,堂本 友恒,中川 ふみ,三浦 真澄,辻 靖博,長田 郁夫,神崎 晋
- 日本周産期・新生児医学会雑誌 = Journal of Japan Society of Perinatal and Neonatal Medicine 44(3), 755-760, 2008-08-20
- NAID 10023969511
Related Links
- Chondrodysplasia punctata is a clinically and genetically diverse group of rare diseases, first described by Conradi, that share the features of stippled epiphyses and skeletal changes. :500 :549. Types include: Rhizomelic chondrodysplasia ...
- X-linked dominant chondrodysplasia punctata, (CDPX2 – MIM 302960) also known as Conradi-. Hünermann-Happle syndrome, is a rare form of skeletal dysplasia that affects the skeleton producing short stature, asymmetric shortening of the ...
★リンクテーブル★
[★]
- ラ
- chondrodysplasia punctata
- 関
- コンラーディ・ヒューネルマン症候群
- 同
- chondrodysplasia punctata
[★]
コンラーディ・ヒューネルマン症候群、Conradi-Hunermann症候群
- 関
- chondrodysplasia punctata
[★]
- 英
- stippled epiphysis
- 同
- 点状軟骨異形成症 chondrodysplasia punctata
[★]
肢根型点状軟骨異形成症、肢根点状軟骨異形成症
- 同
- RCDP
[★]
コンラディ病。点状軟骨異形成症優性型
[★]
- 関
- Skeletal dysplasia