Saethre-Chotzen syndrome

出典: meddic

セートレ・ヒョツェン症候群Saethre-Chotzen症候群

acrocephalosyndactyliaApert syndromePfeiffer syndrome

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出典(authority):フリー百科事典『ウィキペディア(Wikipedia)』「2015/06/29 12:05:45」(JST)

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英文文献

  • Clinicogenetic study of Turkish patients with syndromic craniosynostosis and literature review.
  • Nur BG1, Pehlivanoğlu S2, Mıhçı E1, Calışkan M2, Demir D2, Alper OM3, Kayserili H4, Lüleci G2.Author information 1Department of Pediatric Genetics, Faculty of Medicine, Akdeniz University, Antalya, Turkey.2Department of Medical Biology and Genetics, Faculty of Medicine, Akdeniz University, Antalya, Turkey.3Department of Medical Biology and Genetics, Faculty of Medicine, Akdeniz University, Antalya, Turkey. Electronic address: oalper@akdeniz.edu.tr.4Department of Medical Genetics, Institute of Children's Health, Faculty of Medicine, Istanbul University, Çapa, İstanbul, Turkey.AbstractBACKGROUND: Fibroblast growth factor receptor 2 mutations have been associated with the craniosynostotic conditions of Apert, Crouzon, Pfeiffer, Saethre-Chotzen, Jackson-Weiss, Beare-Stevenson cutis gyrata, and Antley-Bixler syndromes in various ethnic groups.
  • Pediatric neurology.Pediatr Neurol.2014 May;50(5):482-90. doi: 10.1016/j.pediatrneurol.2014.01.023. Epub 2014 Jan 11.
  • BACKGROUND: Fibroblast growth factor receptor 2 mutations have been associated with the craniosynostotic conditions of Apert, Crouzon, Pfeiffer, Saethre-Chotzen, Jackson-Weiss, Beare-Stevenson cutis gyrata, and Antley-Bixler syndromes in various ethnic groups.METHODS: Thirty-three unrelated Turkish
  • PMID 24656465
  • Clinical spectrum and outcomes in families with coronal synostosis and TCF12 mutations.
  • di Rocco F1, Baujat G2, Arnaud E1, Rénier D1, Laplanche JL3, Daire VC2, Collet C3.Author information 1Unité de Chirurgie Craniofaciale, Service de Neurochirurgie, Centre de Référence National Dysostoses Crâniofaciales, Hôpital Necker, Paris, France.2Génétique Clinique, INSERM U781, Université Paris-Descartes-Sorbonne Paris cité, Institut Imagine, Hôpital Necker, Paris, France.3Unité Fonctionnelle de Génétique Moléculaire, Service de Biochimie et Biologie Moléculaire, Pôle B2P, Hôpital Lariboisière, Paris, France.AbstractTCF12 mutations have been reported very recently in coronal synostosis. We report several cases of familial coronal synostosis among four families harbouring novel TCF12 mutations. We observed a broad interfamilial phenotypic spectrum with features overlapping with the Saethre-Chotzen syndrome. TCF12 molecular testing should be considered in patients with unilateral- or bilateral-coronal synostosis associated or not with syndactyly, after having excluded mutations in the TWIST1 gene and the p.Pro250Arg mutation in FGFR3.European Journal of Human Genetics advance online publication, 16 April 2014; doi:10.1038/ejhg.2014.57.
  • European journal of human genetics : EJHG.Eur J Hum Genet.2014 Apr 16. doi: 10.1038/ejhg.2014.57. [Epub ahead of print]
  • TCF12 mutations have been reported very recently in coronal synostosis. We report several cases of familial coronal synostosis among four families harbouring novel TCF12 mutations. We observed a broad interfamilial phenotypic spectrum with features overlapping with the Saethre-Chotzen syndrome. TCF1
  • PMID 24736737
  • Craniofacial Shape Variation in Twist1+/- Mutant Mice.
  • Parsons TE1, Weinberg SM, Khaksarfard K, Howie RN, Elsalanty M, Yu JC, Cray JJ Jr.Author information 1Department of Oral Biology, Center for Craniofacial and Dental Genetics, University of Pittsburgh, Pittsburgh, Pennsylvania.AbstractCraniosynostosis (CS) is a relatively common birth defect resulting from the premature fusion of one or more cranial sutures. Human genetic studies have identified several genes in association with CS. One such gene that has been implicated in both syndromic (Saethre-Chotzen syndrome) and nonsyndromic forms of CS in humans is TWIST1. In this study, a heterozygous Twist1 knock out (Twist1+/- ) mouse model was used to study the craniofacial shape changes associated with the partial loss of function. A geometric morphometric approach was used to analyze landmark data derived from microcomputed tomography scans to compare craniofacial shape between 17 Twist1+/- mice and 26 of their Twist1+/+ (wild type) littermate controls at 15 days of age. The results show that despite the purported wide variation in synostotic severity, Twist1+/- mice have a consistent pattern of craniofacial dysmorphology affecting all major regions of the skull. Similar to Saethre-Chotzen, the calvarium is acrocephalic and wide with an overall brachycephalic shape. Mutant mice also exhibited a shortened cranial base and a wider and shorted face, consistent with coronal CS associated phenotypes. The results suggest that these differences are at least partially the direct result of the Twist1 haploinsufficiency on the developing craniofacial skeleton. This study provides a quantitative phenotype complement to the developmental and molecular genetic research previously done on Twist1. These results can be used to generate further hypotheses about the effect of Twist1 and premature suture fusion on the entire craniofacial skeleton. Anat Rec, 2014. © 2014 Wiley Periodicals, Inc.
  • Anatomical record (Hoboken, N.J. : 2007).Anat Rec (Hoboken).2014 Mar 3. doi: 10.1002/ar.22899. [Epub ahead of print]
  • Craniosynostosis (CS) is a relatively common birth defect resulting from the premature fusion of one or more cranial sutures. Human genetic studies have identified several genes in association with CS. One such gene that has been implicated in both syndromic (Saethre-Chotzen syndrome) and nonsyndrom
  • PMID 24585549

和文文献

  • Pfeiffer症候群,Saethre-Chotzen症候群,クローバーリーフ頭蓋 (特集 Craniosynostosis・先天性頭蓋顔面骨異常の治療) -- (症候群性頭蓋縫合早期癒合症)
  • Clinical and genetic analysis of patients with Saethre-Chotzen syndrome
  • The variable expressivity and incomplete penetrance of the twist-null heterozygous mouse phenotype resemble those of human Saethre-Chotzen syndrome

関連リンク

Saethre-Chotzen syndrome (SCS), also known as acrocephalosyndactyly type 3 (ACS III) and Chotzen syndrome, is a very rare autosomal dominant congenital disorder characterized by acrocephalosyndactyly, craniosynostosis (premature ...
Most people with Saethre-Chotzen syndrome have prematurely fused skull bones along the coronal suture, the growth line that goes over the head from ear to ear. Other parts of the skull may be malformed as well. These changes can result in ...

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リンク元セートレ・ヒョツェン症候群」「acrocephalosyndactylia」「Saethre-Chotzen症候群
関連記事syndrome

セートレ・ヒョツェン症候群」

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Saethre-Chotzen syndrome
アペール症候群パイフェル症候群Saethre-Chotzen症候群尖頭合指症


acrocephalosyndactylia」

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先端異形成症尖頭合指症

Apert syndromePfeiffer syndromeSaethre-Chotzen syndrome


Saethre-Chotzen症候群」

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Saethre-Chotzen syndrome
セートレ・ヒョツェン症候群


syndrome」

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  • n.

WordNet   license wordnet

「a pattern of symptoms indicative of some disease」

WordNet   license wordnet

「a complex of concurrent things; "every word has a syndrome of meanings"」

PrepTutorEJDIC   license prepejdic

「(疾患の徴候となる一群の)症徴候,症候群 / (事件・社会的状態などのパターンを示す)徴候形態」




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