| 词条 | Mandibuloacral dysplasia | ||||||||||||
| 释义 |
| name = Mandibuloacral dysplasia | synonyms = MAD[1] | image = | caption = | pronounce = | field = | symptoms = | complications = | onset = | duration = | types = | causes = | risks = | diagnosis = | differential = | prevention = | treatment = | medication = | prognosis = | frequency = | deaths = }} Mandibuloacral dysplasia is a rare autosomal recessive syndrome characterized by mandibular hypoplasia, delayed cranial suture closure, dysplastic clavicles, abbreviated and club-shaped terminal phalanges, acroosteolysis, atrophy of the skin of the hands and feet, and typical facial changes.[2]{{rp|576}} Types
See also
References1. ^{{cite web |title=Mandibuloacral dysplasia |url=https://rarediseases.info.nih.gov/diseases/11893/mandibuloacral-dysplasia |website=Genetic and Rare Diseases |publisher=NIH |accessdate=19 March 2019}} 2. ^James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. {{ISBN|0-7216-2921-0}}. 3. ^{{cite journal |vauthors= Al-Haggar M, Madej-Pilarczyk A, Kozlowski L, Bujnicki JM, Yahia S, Abdel-Hadi D, Shams A, Ahmad N, Hamed S, Puzianowska-Kuznicka M|year= 2012|title= A novel homozygous p.Arg527Leu LMNA mutation in two unrelated Egyptian families causes overlapping mandibuloacral dysplasia and progeria syndrome.|journal= Eur J Hum Genet|volume= 20|issue= 11|pages= 1134–40|doi= 10.1038/ejhg.2012.77|pmc= 3476705|pmid= 22549407}} 4. ^{{cite journal |vauthors= Barrowman J, Wiley PA, Hudon-Miller SE, Hrycyna CA, Michaelis S|year= 2012|title= Human ZMPSTE24 disease mutations: residual proteolytic activity correlates with disease severity.|url= |journal= Hum Mol Genet|volume= 21|issue= 18|pages= 4084–93|doi= 10.1093/hmg/dds233|pmc= 3428156|pmid= 22718200}} External links{{Medical resources| DiseasesDB = 33029 | ICD10 = | ICD9 = | ICDO = | OMIM = 248370 | MedlinePlus = | eMedicineSubj = | eMedicineTopic = | MeshID = }}{{Cytoskeletal defects}}{{Genodermatoses-stub}} 1 : Genodermatoses |
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