Sökning: onr:"swepub:oai:DiVA.org:uu-248811" > A Study of the Clin...
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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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