| 词条 | Microcephalic osteodysplastic primordial dwarfism type II |
| 释义 |
| synonyms = Majewski osteodysplastic primordial dwarfism type II | name = Microcephalic osteodysplastic primordial dwarfism type II | image = File:Autosomal recessive - en.svg | alt = | caption = Microcephalic osteodysplastic primordial dwarfism type II is inherited in an autosomal recessive manner | pronounce = | field = | symptoms = | complications = | onset = | duration = | types = | causes = | risks = | diagnosis = | differential = | prevention = | treatment = | medication = | prognosis = | frequency = | deaths = }} Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that MOPD, or a subtype of MOPD, affects less than 200,000 people in the US population and a form of dwarfism associated with brain and skeletal abnormalities. It was characterized in 1982.[1] It is associated with PCNT.[2] See also
References1. ^{{cite journal |vauthors=Majewski F, Ranke M, Schinzel A |title=Studies of microcephalic primordial dwarfism II: the osteodysplastic type II of primordial dwarfism |journal=Am. J. Med. Genet. |volume=12 |issue=1 |pages=23–35 |date=May 1982 |pmid=7201238 |doi=10.1002/ajmg.1320120104 |url=}} 2. ^{{cite journal |vauthors=Rauch A, Thiel CT, Schindler D, etal |title=Mutations in the pericentrin (PCNT) gene cause primordial dwarfism |journal=Science |volume=319 |issue=5864 |pages=816–9 |date=February 2008 |pmid=18174396 |doi=10.1126/science.1151174 |url=http://www.sciencemag.org/cgi/pmidlookup?view=short&pmid=18174396}} External links{{Medical resources| DiseasesDB = | ICD10 = Q87.1 | ICD9 = | ICDO = | OMIM = 210720 | MedlinePlus = | eMedicineSubj = | eMedicineTopic = | MeshID = | Orphanet = 2937 }}{{Cytoskeletal defects}} 1 : Growth disorders |
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