bifid uvula

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出典(authority):フリー百科事典『ウィキペディア(Wikipedia)』「2016/02/03 20:04:40」(JST)

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英文文献

  • Multiple phenotypes in phosphoglucomutase 1 deficiency.
  • Tegtmeyer LC1, Rust S, van Scherpenzeel M, Ng BG, Losfeld ME, Timal S, Raymond K, He P, Ichikawa M, Veltman J, Huijben K, Shin YS, Sharma V, Adamowicz M, Lammens M, Reunert J, Witten A, Schrapers E, Matthijs G, Jaeken J, Rymen D, Stojkovic T, Laforêt P, Petit F, Aumaître O, Czarnowska E, Piraud M, Podskarbi T, Stanley CA, Matalon R, Burda P, Seyyedi S, Debus V, Socha P, Sykut-Cegielska J, van Spronsen F, de Meirleir L, Vajro P, DeClue T, Ficicioglu C, Wada Y, Wevers RA, Vanderschaeghe D, Callewaert N, Fingerhut R, van Schaftingen E, Freeze HH, Morava E, Lefeber DJ, Marquardt T.Author information 1The authors' affiliations are listed in the Appendix.AbstractBACKGROUND: Congenital disorders of glycosylation are genetic syndromes that result in impaired glycoprotein production. We evaluated patients who had a novel recessive disorder of glycosylation, with a range of clinical manifestations that included hepatopathy, bifid uvula, malignant hyperthermia, hypogonadotropic hypogonadism, growth retardation, hypoglycemia, myopathy, dilated cardiomyopathy, and cardiac arrest.
  • The New England journal of medicine.N Engl J Med.2014 Feb 6;370(6):533-42. doi: 10.1056/NEJMoa1206605.
  • BACKGROUND: Congenital disorders of glycosylation are genetic syndromes that result in impaired glycoprotein production. We evaluated patients who had a novel recessive disorder of glycosylation, with a range of clinical manifestations that included hepatopathy, bifid uvula, malignant hyperthermia,
  • PMID 24499211
  • Hand and fibrillin-1 deposition abnormalities in Loeys-Dietz syndrome--expanding the clinical spectrum.
  • Chung BH1, Bradley T, Grosse-Wortmann L, Blaser S, Dirks P, Hinek A, Chitayat D.Author information 1Department of Paediatrics and Adolescent Medicine, Centre for Reproduction, Growth and Development, The University of Hong Kong, Hong Kong, Hong Kong.AbstractLoeys-Dietz syndrome (LDS) is an autosomal dominant connective tissue disorder characterized by hypertelorism, bifid uvula, cleft palate and arterial tortuosity. We report on a patient with LDS, bearing mutation in the TGFβR2 gene, whose prenatal examination demonstrated clenched fists and club feet, suggesting arthrogryposis multiplex congenita. Postnatal assessment showed digital abnormalities, including brachydactyly, camptodactyly, partial syndactyly and absent distal phalanges. With the lack of fibrillin-1 microfibril deposition as well as impaired and inadequate elastic fiber assembly in our patient's fibroblasts, we speculate that the skeletal abnormalities seen in this patient with LDS are the result of lack of these components in embryonal perichondrium and in blood vessels. We suggest that LDS should be included in the differential diagnosis of joint contractures seen pre and postnatally. Prenatal diagnosis of LDS would be important in parental counseling and early post natal diagnosis could prompt treatment before the development of detrimental vascular complications.
  • American journal of medical genetics. Part A.Am J Med Genet A.2014 Feb;164A(2):461-6. doi: 10.1002/ajmg.a.36246. Epub 2013 Nov 5.
  • Loeys-Dietz syndrome (LDS) is an autosomal dominant connective tissue disorder characterized by hypertelorism, bifid uvula, cleft palate and arterial tortuosity. We report on a patient with LDS, bearing mutation in the TGFβR2 gene, whose prenatal examination demonstrated clenched fists and club fee
  • PMID 24194458

和文文献

  • Loeys-Dietz 症候群
  • 森崎 裕子,森崎 隆幸
  • 日本小児循環器学会雑誌 30(3), 232-238, 2014
  • Loeys-Dietz症候群(LDS)は,動脈瘤/解離,蛇行性血管などの血管症状,特徴的顔貌(眼間開離,二分口蓋垂/口蓋裂,頭蓋骨早期癒合),および種々の骨格症状(漏斗胸,鳩胸,側彎,関節過可動,クモ状指,内反足)を呈する常染色体優性遺伝性の全身性結合組織異常である.症例による症状の幅は広く,また必ずしも前記すべての症状を伴うとは限らないが,何らかの血管症状をほぼ全例で認める.Marfan症候群( …
  • NAID 130004879018
  • Clinical features and genetic analysis of Korean patients with Loeys–Dietz syndrome
  • Yang Jeong Hoon,Ki Chang-Seok,Han Hyejin [他],SONG Bong Gun,JANG Shin Yi,CHUNG Tae-Young,SUNG Kiick,LEE Heung Jae,KIM Duk-Kyung
  • Journal of human genetics 57(1), 52-56, 2012-01-01
  • NAID 10030662407

関連リンク

bifid uvula, bifurcation of the uvula, an incomplete form of cleft palate, commonly seen in Native Americans. bifid uvula A uvula with a central cleft, a common anomaly seen in ±1% of whites and 10% of Native Americans. Persons with ...
Sir, Bifid uvula means a cleft in uvula. It is often considered as a marker for sub mucous cleft palate. Compared to the normal one, it has fewer amounts of muscular tissues. It is commonly noticed in infants and is rarely found in adult.

関連画像

Bifid Uvula 16‑year‑old boy with bifid uvulajuywuhc.jpg?itok=NJ2KNukAForked/bifid uvulacomplete bifid uvulaBifid Uvula Pictures


★リンクテーブル★
関連記事uvula」「bifid

uvula」

  [★] 口蓋垂

虫部垂

WordNet   license wordnet

「a small pendant fleshy lobe at the back of the soft palate」

PrepTutorEJDIC   license prepejdic

「口蓋(こうがい)垂,のどびこ」


bifid」

  [★]

  • 二分の
bipartitebisectbisectiondichoticdichotomous

WordNet   license wordnet

「divided into two lobes; "a bifid petal"」




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