词条 | SHORT syndrome |
释义 |
| name = SHORT syndrome | synonyms = | image = Autosomal dominant - en.svg | caption = SHORT syndrome is inherited in a autosomal dominant manner | pronounce = | field = | symptoms = | complications = | onset = | duration = | types = | causes = | risks = | diagnosis = | differential = | prevention = | treatment = | medication = | prognosis = | frequency = | deaths = }} SHORT syndrome is a medical condition in which affected individuals have multiple birth defects in different organ systems. It was characterized in 1975.[1] PresentationSHORT is an acronym for short stature, hyperextensibility of joints and/or inguinal hernia, ocular depression, rieger anomaly and teething delay. Other characteristics common in SHORT syndrome are a triangular face, small chin with a dimple, a loss of fat under the skin (lipodystrophy), abnormal position of the ears, hearing loss and delayed speech. Diagnosis{{Empty section|date=September 2017}}Treatment{{Empty section|date=September 2017}}References1. ^{{cite journal |vauthors=Gorlin RJ, Cervenka J, Moller K, Horrobin M, Witkop CJ |title=Malformation syndromes. A selected miscellany |journal=Birth Defects Orig. Artic. Ser. |volume=11 |issue=2 |pages=39–50 |year=1975 |pmid=819054 |doi= |url=}} External links{{Medical resources| DiseasesDB = 30068 | ICD10 = Q87.1 | ICD9 = | ICDO = | OMIM = 269880 | MedlinePlus = | eMedicineSubj = | eMedicineTopic = | MeshID = C537327 | Orphanet = 3163 }}{{DEFAULTSORT:Short Syndrome}}{{congenital-malformation-stub}} 2 : Congenital disorders|Syndromes |
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