{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,19]],"date-time":"2026-08-19T06:25:35Z","timestamp":1787120735220,"version":"build-2736575974"},"reference-count":16,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2026,6,28]],"date-time":"2026-06-28T00:00:00Z","timestamp":1782604800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,6,28]],"date-time":"2026-06-28T00:00:00Z","timestamp":1782604800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Case Reports"],"published-print":{"date-parts":[[2026,7]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>Bloom syndrome is a rare autosomal recessive chromosomal instability disorder characterized by growth deficiency and early\u2010onset malignancies, and its coexistence with multiple vascular neurocutaneous syndromes is exceptionally uncommon. We report an 8\u2010year\u2010old girl who presented with severe growth failure and persistent pancytopenia. Bone marrow examination showed hypocellularity with monosomy 7, consistent with myelodysplastic neoplasm, and molecular analysis identified a homozygous pathogenic BLM variant (NM_000057.4:c.796C&gt;T; p.Arg266Ter). Clinically, she exhibited overlapping neurocutaneous features within the spectrum of Sturge\u2013Weber syndrome, Klippel\u2013Tr\u00e9naunay syndrome, and phakomatosis pigmentovascularis. The course was complicated by severe sepsis, leading to death before hematopoietic stem cell transplantation could be performed. This case highlights the importance of considering inherited cancer predisposition syndromes in children with cytopenia, growth failure, and complex neurocutaneous phenotypes.<\/jats:p>","DOI":"10.1002\/ccr3.73007","type":"journal-article","created":{"date-parts":[[2026,6,29]],"date-time":"2026-06-29T03:30:31Z","timestamp":1782703831000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Bloom Syndrome Presenting With Early\u2010Onset Myelodysplastic Syndrome and Triple Overlapping Vascular Neurocutaneous Phenotypes: A Case Report"],"prefix":"10.1002","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1470-4693","authenticated-orcid":false,"given":"Elham","family":"Shahgholi","sequence":"first","affiliation":[{"name":"Department of Pediatric Hematology\u2010Oncology Bahrami Children's Hospital, School of Medicine, Tehran University of Medical Sciences  Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nahid","family":"Khosroshahi","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology Bahrami Children's Hospital, School of Medicine, Tehran University of Medical Sciences  Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0138-1872","authenticated-orcid":false,"given":"Sara","family":"Sadeghi","sequence":"additional","affiliation":[{"name":"Pediatric Growth and Development Research Center, Institute of Endocrinology Iran University of Medical Sciences  Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,6,28]]},"reference":[{"key":"e_1_2_13_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005792-199311000-00003"},{"key":"e_1_2_13_3_1","doi-asserted-by":"publisher","DOI":"10.1159\/000452082"},{"key":"e_1_2_13_4_1","volume-title":"GeneReviews [Internet]","author":"Langer K.","year":"2006"},{"key":"e_1_2_13_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/s0165\u20104608(99)00099\u20100"},{"key":"e_1_2_13_6_1","volume-title":"GeneReviews [Internet]","author":"Olson T. 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