| 词条 | Keppen–Lubinsky syndrome |
| 释义 |
| name = {{PAGENAME}} | synonyms = Generalized lipodystrophy-progeroid features-severe intellectual disability syndrome | image = File:Autosomal dominant - en.svg | image_size = 160px | alt = | caption = This condition is inherited in an autosomal dominant manner | pronounce = | field = | symptoms = | complications = | onset = | duration = | types = | causes = | risks = | diagnosis = | differential = | prevention = | treatment = | medication = | prognosis = | frequency = | deaths = }}Keppen–Lubinsky syndrome is an extremely rare congenital disorder. The minimal clinical criteria for the Keppen–Lubinsky syndrome are as follows: normal growth parameters at birth, postnatal growth failure, peculiar face with an aged appearance (large prominent eyes, a narrow nasal bridge, a tented upper lip, a high palate, an open mouth), skin tightly adherent to facial bones, generalized lipodystrophy, microcephaly, and development delay.[1][2][3] Keppen-Lubinsky syndrome is caused by mutation in the inwardly rectifying K+ channels encoded by KCNJ6 gene.[4] References1. ^{{cite book |first=Robert |last=Gorlin |first2=M. Michael |last2=Cohen |first3=Raoul |last3=Hennekam |year=2001 |title=Keppen–Lubinsky syndrome |chapter=Syndromes of the head and neck |edition=4th |location=New York, U.S. |publisher=Oxford University Press |pages=1179 |chapter-url=https://books.google.com/books?id=IQGRwClxPTEC }} 2. ^{{cite journal |last=De Brasi |first=D |last2=Brunetti-Pierri |first2=N |last3=Di Micco |first3=P |last4=Andria |first4=G |last5=Sebastio |first5=G |title=New syndrome with generalized lipodystrophy and a distinctive facial appearance: confirmation of Keppen-Lubinski syndrome? | pages=194–5 |year=2003 |doi=10.1002/ajmg.a.10936 |pmid=12567423 |volume=117A |issue=2 |journal=American Journal of Medical Genetics}} 3. ^{{cite journal |first=Lina |last=Basel-Vanagaite |first2=Lisa |last2=Shaffer |first3=David |last3=Chitayat |journal=American Journal of Medical Genetics |volume=149A |issue=8 |pages=1827–9 |year=2009 |title=Keppen-Lubinsky syndrome: Expanding the phenotype |pmid=19610118 |doi=10.1002/ajmg.a.32975}} 4. ^{{Cite journal|last=Masotti|first=Andrea|last2=Uva|first2=Paolo|last3=Davis-Keppen|first3=Laura|last4=Basel-Vanagaite|first4=Lina|last5=Cohen|first5=Lior|last6=Pisaneschi|first6=Elisa|last7=Celluzzi|first7=Antonella|last8=Bencivenga|first8=Paola|last9=Fang|first9=Mingyan|date=2015-02-05|title=Keppen-Lubinsky Syndrome Is Caused by Mutations in the Inwardly Rectifying K+ Channel Encoded by KCNJ6|url=http://www.cell.com/ajhg/abstract/S0002-9297(14)00517-5|journal=The American Journal of Human Genetics|language=English|volume=96|issue=2|pages=295–300|doi=10.1016/j.ajhg.2014.12.011|issn=0002-9297|pmid=25620207|pmc=4320262}} External links{{Medical resources| ICD10 = E88.1 | ICD9 = | ICDO = | OMIM = 614098 | DiseasesDB = | MedlinePlus = | eMedicineSubj = | eMedicineTopic = | MeSH = | GeneReviewsNBK = | GeneReviewsName = | Orphanet = 435628 }}
6 : Rare syndromes|Genetic syndromes|Syndromes with mental retardation|Syndromes with craniofacial abnormalities|Syndromes affecting the skin|Syndromes with microcephaly |
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