{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,5]],"date-time":"2026-06-05T01:07:11Z","timestamp":1780621631919,"version":"3.54.1"},"reference-count":21,"publisher":"Walter de Gruyter GmbH","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,5,26]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec id=\"j_jpem-2025-0505_abs_001\">\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>\n                      Dyggve\u2013Melchior\u2013Clausen (DMC) syndrome is a rare autosomal recessive skeletal dysplasia caused by mutations in the\n                      <jats:italic>DYM<\/jats:italic>\n                      gene. It is characterized by progressive spondyloepimetaphyseal dysplasia, short stature, coarse facial features, microcephaly and intellectual disability. While it clinically resembles Morquio syndrome (mucopolysaccharidosis type IV, MPS IV), DMC is distinguished by cognitive impairment, absence of corneal clouding, normal urinary glycosaminoglycans and distinctive radiological features.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_jpem-2025-0505_abs_002\">\n                    <jats:title>Case presentation<\/jats:title>\n                    <jats:p>\n                      We reported three siblings with DMC syndrome. Two 4-year-old monozygotic male twins, born to consanguineous parents, presented with growth retardation and developmental delay. Radiographs showed generalized platyspondyly, rhizomelic shortening and metaphyseal dysplasia, while biochemical tests excluded MPS IV. Molecular tests revealed a homozygous deletion in exon 16 of the\n                      <jats:italic>DYM<\/jats:italic>\n                      gene. The third sibling, with Down syndrome, also exhibited similar skeletal features and carried the same\n                      <jats:italic>DYM<\/jats:italic>\n                      deletion.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_jpem-2025-0505_abs_003\">\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      The clinical and radiological features of our patients were consistent with DMC syndrome, with partial overlap with MPS IV. This case series represents the first reported coexistence of DMC and Down syndrome. In addition, we identified a novel homozygous deletion in exon 16 of the\n                      <jats:italic>DYM<\/jats:italic>\n                      gene, which broadens the known mutational spectrum. This finding also highlights the importance of comprehensive genetic testing when standard sequencing results are inconclusive. The presence of neurological findings, such as seizures, further supports the need for combined genetic and neurological evaluation in these patients.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1515\/jpem-2025-0505","type":"journal-article","created":{"date-parts":[[2026,1,19]],"date-time":"2026-01-19T05:59:51Z","timestamp":1768802391000},"page":"515-522","source":"Crossref","is-referenced-by-count":0,"title":["Dyggve\u2013Melchior\u2013Clausen syndrome in three siblings: a unique case series with dual diagnosis of Down syndrome and Hirschsprung disease"],"prefix":"10.1515","volume":"39","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0307-901X","authenticated-orcid":false,"given":"Meryem","family":"Halis","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Division of Pediatric Genetics , Dokuz Eylul University Faculty of Medicine , \u0130zmir , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9565-6907","authenticated-orcid":false,"given":"Mehmet","family":"Kocabey","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics , Dokuz Eylul University Faculty of Medicine , \u0130zmir , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6714-2367","authenticated-orcid":false,"given":"Fatma Ceren","family":"Sar\u0131o\u011flu","sequence":"additional","affiliation":[{"name":"Department of Radiology, Division of Pediatric Radiology , Dokuz Eylul University Faculty of Medicine , \u0130zmir , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0006-3232-7843","authenticated-orcid":false,"given":"Suzan","family":"S\u00fcncak","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Pediatric Genetics , Dokuz Eylul University Faculty of Medicine , \u0130zmir , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0392-2751","authenticated-orcid":false,"given":"Merve","family":"Bilen","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Pediatric, Metabolism and Nutrition , Dokuz Eylul University Faculty of Medicine , \u0130zmir , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3151-3741","authenticated-orcid":false,"given":"Nur","family":"Arslan","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Pediatric, Metabolism and Nutrition , Dokuz Eylul University Faculty of Medicine , \u0130zmir , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6795-3012","authenticated-orcid":false,"given":"Semra","family":"G\u00fcrsoy","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Pediatric Genetics , Dokuz Eylul University Faculty of Medicine , \u0130zmir , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1691-1362","authenticated-orcid":false,"given":"Handan G\u00fclery\u00fcz","family":"U\u00e7ar","sequence":"additional","affiliation":[{"name":"Department of Radiology, Division of Pediatric Radiology , Dokuz Eylul University Faculty of Medicine , \u0130zmir , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9969-203X","authenticated-orcid":false,"given":"Ayfer","family":"\u00dclgenalp","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics , Dokuz Eylul University Faculty of Medicine , \u0130zmir , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1455-308X","authenticated-orcid":false,"given":"\u00d6zlem Giray","family":"Bozkaya","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Pediatric Genetics , Dokuz Eylul University Faculty of Medicine , \u0130zmir , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2026,1,20]]},"reference":[{"key":"2026060500564546709_j_jpem-2025-0505_ref_001","doi-asserted-by":"crossref","unstructured":"Beighton, P. 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