{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,9]],"date-time":"2026-01-09T20:15:06Z","timestamp":1767989706051,"version":"3.49.0"},"reference-count":32,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2008,5,20]],"date-time":"2008-05-20T00:00:00Z","timestamp":1211241600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2008,6]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Congenital disorder of glycosylation type I (CDG I) represent a rapidly growing group of inherited multisystem disorders with 13 genetically established subtypes (CDG Ia to CDG Im), and a high number of biochemically unresolved cases (CDG Ix). Further diagnostic effort and prognosis counselling are very challenging in these children. In the current study, we reviewed the clinical records of 10 CDG Ix patients and compared the data with 13 CDG Ix patients published in the literature in search for specific symptoms to create clinical subgroups. The most frequent findings were rather nonspecific, including developmental delay and axial hypotonia. Several features were found that are uncommon in CDG syndrome, such as elevated creatine kinase or arthrogryposis. Distinct ophthalmological abnormalities were observed including optic nerve atrophy, cataract and glaucoma. Two subgroups could be established: one with a pure neurological presentation and the other with a neurological\u2010multivisceral form. The first group had a significantly better prognosis. The unique presentation of microcephaly, seizures, ascites, hepatomegaly, nephrotic syndrome and severe developmental delay was observed in one child diagnosed with CDG Ik. Establishing clinical subgroups and increasing the number of patients within the subgroups may lead the way towards the genetic defect in children with a so far unsolved type of the congenital disorders of glycosylation. Raising awareness for less common, non\u2010CDG specific clinical features such as congenital joint contractures, movement disorders or ophthalmological anomalies will encourage clinicians to think of CDG in its more unusual presentation. Clinical grouping also helps to determine the prognosis and provide better counselling for the families.<\/jats:p>","DOI":"10.1007\/s10545-008-0822-0","type":"journal-article","created":{"date-parts":[[2008,5,23]],"date-time":"2008-05-23T14:10:01Z","timestamp":1211551801000},"page":"450-456","source":"Crossref","is-referenced-by-count":35,"title":["Congenital disorder of glycosylation type Ix: Review of clinical spectrum and diagnostic steps"],"prefix":"10.1002","volume":"31","author":[{"given":"\u00c9.","family":"Morava","sequence":"first","affiliation":[{"name":"Laboratory of Paediatrics and Neurology and the Department of Paediatrics Radboud University Nijmegen Medical Centre Nijmegen The Netherlands"},{"name":"Department of Pediatrics Radboud University Nijmegen Medical Centre P.O. Box 9101 Nijmegen 6500 HB The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H.","family":"Wosik","sequence":"additional","affiliation":[{"name":"Medical University in Lodz Lodz Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"K\u00e1rteszi","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Child Development University of P\u00e9cs P\u00e9cs Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Guillard","sequence":"additional","affiliation":[{"name":"Laboratory of Paediatrics and Neurology and the Department of Paediatrics Radboud University Nijmegen Medical Centre Nijmegen The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Adamowicz","sequence":"additional","affiliation":[{"name":"Department of Paediatrics University of Warsaw Warsaw Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Sykut\u2010Cegielska","sequence":"additional","affiliation":[{"name":"Department of Paediatrics University of Warsaw Warsaw Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K.","family":"Hadzsiev","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Child Development University of P\u00e9cs P\u00e9cs Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R. 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