| 词条 | Rud syndrome |
| 释义 |
| synonyms = | name = Rud syndrome | image = | caption = | pronounce = | field = | symptoms = RUDS | complications = | onset = | duration = | types = | causes = | risks = | diagnosis = | differential = | prevention = | treatment = | medication = | prognosis = | frequency = | deaths = }}Rud syndrome is a poorly characterized disorder, probably of X-linked recessive inheritance,[1] named after Einar Rud who described 2 patients with the case in 1927 and 1929. It was argued that all reported cases of Rud syndrome are genetically heterogeneous and significantly differ from the original case reports of Rud and that the designation Rud syndrome should be eliminated and that the patients with such diagnosis should be reassigned to other syndromes, such as Refsum disease and Sjögren-Larsson syndrome.[1] Some consider Rud syndrome and Sjögren-Larsson syndrome the same entity and that Rud syndrome doesn't exist.[2][3] PresentationWhile inclusion criteria for Rud syndrome have varied considerably, the major manifestations includes congenital ichthyosis, hypogonadism, small stature, mental retardation, and epilepsy.[5][4]{{rp|502}}[5]{{rp|564}} Ocular findings were inconsistently reported and included strabismus, blepharoptosis, blepharospasm, glaucoma, cataract, nystagmus, and retinitis pigmentosa. Other systemic includes metabolic, bony, neurologic, and muscular abnormalities.[6] Diagnosis{{Empty section|date=February 2018}}Treatment{{Empty section|date=February 2018}}EponymIn 1929, the Danish physician Einar Rud described a 22-year-old Danish male had ichthyosis, hypogonadism, short stature, epilepsy, anemia, and polyneuritis. In 1929, he described a 29-year-old female with ichthyosis, hypogonadism, partial gigantism, and diabetes mellitus.[7][8] References1. ^1 {{Cite web|url=https://www.omim.org/entry/308200|title=OMIM Entry - 308200 - ICHTHYOSIS AND MALE HYPOGONADISM|website=www.omim.org|language=en-us|access-date=2017-10-29}} 2. ^{{Cite web|url=http://www.whonamedit.com/synd.cfm/1679.html|title=Whonamedit - dictionary of medical eponyms|website=www.whonamedit.com|language=en|access-date=2017-10-29}} 3. ^{{Cite journal|last=Happle|first=Rudolf|date=January 2012|title=Rud syndrome does not exist|journal=European Journal of Dermatology: EJD|volume=22|issue=1|pages=7|doi=10.1684/ejd.2011.1601|issn=1167-1122|pmid=22067942}} 4. ^Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. {{ISBN|0-07-138076-0}}. 5. ^James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. {{ISBN|0-7216-2921-0}}. 6. ^1 {{Cite journal|last=Kaufman|first=Lawrence M.|title=A syndrome of retinitis pigmentosa, congenital ichthyosis, hypergonadotropic hypogonadism, small stature, mental retardation, cranial dysmorphism, and abnormal electroencephalogram|journal=Ophthalmic Genetics|language=en|volume=19|issue=2|pages=69–79|doi=10.1076/opge.19.2.69.2318|pmid=9695088|year=1998}} 7. ^{{Cite journal|last=Rud|first=E|date=1927|title=Et Tilfaelde af infantilisme med tetani, epilepsi, polyneuritis, ichthyosis og anaemi af perniciøs type|url=|journal=Hospitalstidende (Copenhagen)|language=Danish|volume=70|pages=525–538|via=}} 8. ^{{Cite journal|last=Rud|first=E|date=1929|title=Et tilfaelde af hypogenitalisme (eunuchoidismus femininus) med partiel gigantisme og ichthyosis.|url=|journal=Hospitalstidende (Copenhagen)|language=Danish|volume=72|pages=426–433|via=}} External links{{Medical resources| DiseasesDB = 29322 | ICD10 = | ICD9 = | ICDO = | OMIM = 308200 | MedlinePlus = | eMedicineSubj = | eMedicineTopic = | MeshID = C535878 | Orphanet = 431 }}{{genetic-disorder-stub}} 8 : Genetic disorders with OMIM but no gene|Syndromes affecting the skin|Syndromes with mental retardation|Syndromes with short stature|Syndromes affecting the eyes|Syndromes affecting the endocrine system|Syndromes with seizures|Rare diseases |
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