A Study of the Clinical and Radiological Features in a Cohort of 93 Patients with a COL2A1 Mutation Causing Spondyloepiphyseal Dysplasia Congenita or a Related Phenotype

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Fältnamn	Indikatorer	Metadata
000		05487naa a2201009 4500
001		oai:DiVA.org:uu-248811
003		SwePub
008		150408s2015 \| \|\|\|\|\|\|\|\|\|\|\|000 \|\|eng\|
024	7	a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-2488112 URI
024	7	a https://doi.org/10.1002/ajmg.a.369222 DOI
040		a (SwePub)uu
041		a engb eng
042		9 SwePub
072	7	a ref2 swepub-contenttype
072	7	a art2 swepub-publicationtype
100	1	a Terhal, Paulien A.4 aut
245	1 0	a A Study of the Clinical and Radiological Features in a Cohort of 93 Patients with a COL2A1 Mutation Causing Spondyloepiphyseal Dysplasia Congenita or a Related Phenotype
264		c 2015-01-21
264	1	b Wiley,c 2015
338		a print2 rdacarrier
520		a Type 2 collagen disorders encompass a diverse group of skeletal dysplasias that are commonly associated with orthopedic, ocular, and hearing problems. However, the frequency of many clinical features has never been determined. We retrospectively investigated the clinical, radiological, and genotypic data in a group of 93 patients with molecularly confirmed SEDC or a related disorder. The majority of the patients (80/93) had short stature, with radiological features of SEDC (n=64), others having SEMD (n=5), Kniest dysplasia (n=7), spondyloperipheral dysplasia (n=2), or Torrance-like dysplasia (n=2). The remaining 13 patients had normal stature with mild SED, Stickler-like syndrome or multiple epiphyseal dysplasia. Over 50% of the patients had undergone orthopedic surgery, usually for scoliosis, femoral osteotomy or hip replacement. Odontoid hypoplasia was present in 56% (95% CI 38-74) and a correlation between odontoid hypoplasia and short stature was observed. Atlanto-axial instability, was observed in 5 of the 18 patients (28%, 95% CI 10-54) in whom flexion-extension films of the cervical spine were available; however, it was rarely accompanied by myelopathy. Myopia was found in 45% (95% CI 35-56), and retinal detachment had occurred in 12% (95% CI 6-21; median age 14 years; youngest age 3.5 years). Thirty-two patients complained of hearing loss (37%, 95% CI 27-48) of whom 17 required hearing aids. The ophthalmological features and possibly also hearing loss are often relatively frequent and severe in patients with splicing mutations. Based on clinical findings, age at onset and genotype-phenotype correlations in this cohort, we propose guidelines for the management and follow-up in this group of disorders.
650	7	a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe
650	7	a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng
653		a spondyloepiphyseal dysplasia
653		a SEDC
653		a genotype-phenotype
653		a review
653		a COL2A1
700	1	a Nievelstein, Rutger Jan A. J.4 aut
700	1	a Verver, Eva J. J.4 aut
700	1	a Topsakal, Vedat4 aut
700	1	a van Dommelen, Paula4 aut
700	1	a Hoornaert, Kristien4 aut
700	1	a Le Merrer, Martine4 aut
700	1	a Zankl, Andreas4 aut
700	1	a Simon, Marleen E. H.4 aut
700	1	a Smithson, Sarah F.4 aut
700	1	a Marcelis, Carlo4 aut
700	1	a Kerr, Bronwyn4 aut
700	1	a Clayton-Smith, Jill4 aut
700	1	a Kinning, Esther4 aut
700	1	a Mansour, Sahar4 aut
700	1	a Elmslie, Frances4 aut
700	1	a Goodwin, Linda4 aut
700	1	a van der Hout, Annemarie H.4 aut
700	1	a Veenstra-Knol, Hermine E.4 aut
700	1	a Herkert, Johanna C.4 aut
700	1	a Lund, Allan M.4 aut
700	1	a Hennekam, Raoul C. M.4 aut
700	1	a Megarbane, Andre4 aut
700	1	a Lees, Melissa M.4 aut
700	1	a Wilson, Louise C.4 aut
700	1	a Male, Alison4 aut
700	1	a Hurst, Jane4 aut
700	1	a Alanay, Yasemin4 aut
700	1	a Annerén, Göranu Uppsala universitet,Science for Life Laboratory, SciLifeLab,Medicinsk genetik och genomik4 aut0 (Swepub:uu)goraanne
700	1	a Betz, Regina C.4 aut
700	1	a Bongers, Ernie M. H. F.4 aut
700	1	a Cormier-Daire, Valerie4 aut
700	1	a Dieux, Anne4 aut
700	1	a David, Albert4 aut
700	1	a Elting, Mariet W.4 aut
700	1	a van den Ende, Jenneke4 aut
700	1	a Green, Andrew4 aut
700	1	a van Hagen, Johanna M.4 aut
700	1	a Hertel, Niels Thomas4 aut
700	1	a Holder-Espinasse, Muriel4 aut
700	1	a den Hollander, Nicolette4 aut
700	1	a Homfray, Tessa4 aut
700	1	a Hove, Hanne D.4 aut
700	1	a Price, Susan4 aut
700	1	a Raas-Rothschild, Annick4 aut
700	1	a Rohrbach, Marianne4 aut
700	1	a Schroeter, Barbara4 aut
700	1	a Suri, Mohnish4 aut
700	1	a Thompson, Elizabeth M.4 aut
700	1	a Tobias, Edward S.4 aut
700	1	a Toutain, Annick4 aut
700	1	a Vreeburg, Maaike4 aut
700	1	a Wakeling, Emma4 aut
700	1	a Knoers, Nine V.4 aut
700	1	a Coucke, Paul4 aut
700	1	a Mortier, Geert R.4 aut
710	2	a Uppsala universitetb Science for Life Laboratory, SciLifeLab4 org
773	0	t American Journal of Medical Genetics. Part Ad : Wileyg 167A:3, s. 461-475q 167A:3<461-475x 1552-4825x 1552-4833
856	4 8	u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-248811
856	4 8	u https://doi.org/10.1002/ajmg.a.36922

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Av författaren/redakt...: Terhal, Paulien ...; Nievelstein, Rut ...; Verver, Eva J. J ...; Topsakal, Vedat; van Dommelen, Pa ...; Hoornaert, Krist ...; visa fler...; Le Merrer, Marti ...; Zankl, Andreas; Simon, Marleen E ...; Smithson, Sarah ...; Marcelis, Carlo; Kerr, Bronwyn; Clayton-Smith, J ...; Kinning, Esther; Mansour, Sahar; Elmslie, Frances; Goodwin, Linda; van der Hout, An ...; Veenstra-Knol, H ...; Herkert, Johanna ...; Lund, Allan M.; Hennekam, Raoul ...; Megarbane, Andre; Lees, Melissa M.; Wilson, Louise C ...; Male, Alison; Hurst, Jane; Alanay, Yasemin; Annerén, Göran; Betz, Regina C.; Bongers, Ernie M ...; Cormier-Daire, V ...; Dieux, Anne; David, Albert; Elting, Mariet W ...; van den Ende, Je ...; Green, Andrew; van Hagen, Johan ...; Hertel, Niels Th ...; Holder-Espinasse ...; den Hollander, N ...; Homfray, Tessa; Hove, Hanne D.; Price, Susan; Raas-Rothschild, ...; Rohrbach, Marian ...; Schroeter, Barba ...; Suri, Mohnish; Thompson, Elizab ...; Tobias, Edward S ...; Toutain, Annick; Vreeburg, Maaike; Wakeling, Emma; Knoers, Nine V.; Coucke, Paul; Mortier, Geert R ...; visa färre...

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