WordNet

abnormal development (of organs or cells) or an abnormal structure resulting from such growth

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1. 先天性股関節脱臼：治療および転帰 developmental dysplasia of the hip treatment and outcome
2. 線維筋異形成症の臨床症状および診断 clinical manifestations and diagnosis of fibromuscular dysplasia
3. 腎動脈の線維筋異形成症の治療 treatment of fibromuscular dysplasia of the renal arteries
4. バレット食道のマネージメント management of barretts esophagus
5. 致死的骨格形成異常の出生前診断 prenatal diagnosis of the lethal skeletal dysplasias

Gilissen C, Arts HH, Hoischen A, Spruijt L, Mans DA, Arts P, van Lier B, Steehouwer M, van Reeuwijk J, Kant SG, Roepman R, Knoers NV, Veltman JA, Brunner HG.SourceDepartment of Human Genetics, Institute for Genetic and Metabolic Disorders, Radboud University Nijmegen Medical Centre, The Netherlands.
American journal of human genetics.Am J Hum Genet.2010 Sep 10;87(3):418-23.
Sensenbrenner syndrome/cranioectodermal dysplasia (CED) is an autosomal-recessive disease that is characterized by craniosynostosis and ectodermal and skeletal abnormalities. We sequenced the exomes of two unrelated CED patients and identified compound heterozygous mutations in WDR35 as the cause of
PMID 20817137

Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene.

Walczak-Sztulpa J, Eggenschwiler J, Osborn D, Brown DA, Emma F, Klingenberg C, Hennekam RC, Torre G, Garshasbi M, Tzschach A, Szczepanska M, Krawczynski M, Zachwieja J, Zwolinska D, Beales PL, Ropers HH, Latos-Bielenska A, Kuss AW.SourceDepartment of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin 14195, Germany. jsztulpa@umed.poznan.pl
American journal of human genetics.Am J Hum Genet.2010 Jun 11;86(6):949-56. Epub 2010 May 20.
Cranioectodermal dysplasia (CED) is a disorder characterized by craniofacial, skeletal, and ectodermal abnormalities. Most cases reported to date are sporadic, but a few familial cases support an autosomal-recessive inheritance pattern. Aiming at the elucidation of the genetic basis of CED, we colle
PMID 20493458

Renal failure due to tubulointerstitial nephropathy in an infant with cranioectodermal dysplasia

Obikane Katsuyuki,Nakashima Taiji,Watarai Yoshihiko,Morita Ken,Cho Kazutoshi,Tonoki Hidefumi,Nagata Michio,Sasaki Satoshi
Pediatric Nephrology 21(4), 574-576, 2006-04
… Cranioectodermal dysplasia (CED) is a rare autosomal recessive disease with characteristic craniofacial, skeletal, and ectodermal-derived tissue abnormalities. …
NAID 120000960080