{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,5]],"date-time":"2026-06-05T23:38:17Z","timestamp":1780702697445,"version":"3.54.1"},"reference-count":30,"publisher":"MDPI AG","issue":"7","license":[{"start":{"date-parts":[[2024,4,5]],"date-time":"2024-04-05T00:00:00Z","timestamp":1712275200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Associazione Italiana Sindrome di Shwachman\u2013Diamond (AISS)","award":["#3\/2024"],"award-info":[{"award-number":["#3\/2024"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cancers"],"abstract":"<jats:p>Shwachman\u2013Diamond syndrome (SDS) is one of the most common inherited bone marrow failure syndromes. SDS is characterized by hypocellular bone marrow, with a severe impairment of the myeloid lineage, resulting in neutropenia, thrombocytopenia, and, more rarely, anemia. Almost 15% of patients with SDS develop myelodysplastic syndrome or acute myeloid leukemia as early as childhood or young adulthood. Exocrine pancreatic insufficiency is another common feature of SDS. Almost all patients with SDS show failure to thrive, which is associated with skeletal abnormalities due to defective ossification. Considering these observations, it remains unfeasible to use the common growth charts already available for the general population. To address this issue, we report how we drew up growth charts of patients with SDS aged 0 to 18 years. We analyzed height, weight, and body max index (BMI) in 121 Italian patients with SDS. Results indicated that the 50th and 3rd percentiles of weight and height of the pediatric general population correspond to the 97th and 50th percentiles of patients with SDS aged 0\u201318 years, respectively. In addition, the percentage increment in weight of subjects aged 14\u201318 years was higher in patients with SDS than in the general population. SDS-specific growth charts, such as those described here, afford a new tool, which is potentially useful for both clinical and research purposes in SDS.<\/jats:p>","DOI":"10.3390\/cancers16071420","type":"journal-article","created":{"date-parts":[[2024,4,8]],"date-time":"2024-04-08T03:11:33Z","timestamp":1712545893000},"page":"1420","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Growth Charts for Shwachman\u2013Diamond Syndrome at Ages 0 to 18 Years"],"prefix":"10.3390","volume":"16","author":[{"given":"Anna","family":"Pegoraro","sequence":"first","affiliation":[{"name":"Cystic Fibrosis Center, Azienda Ospedaliera Universitaria Integrata, 37126 Verona, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6849-4487","authenticated-orcid":false,"given":"Valentino","family":"Bezzerri","sequence":"additional","affiliation":[{"name":"Cystic Fibrosis Center, Azienda Ospedaliera Universitaria Integrata, 37126 Verona, Italy"},{"name":"Department of Life Sciences, Health, and Health Professions, Link Campus University, 00165 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gloria","family":"Tridello","sequence":"additional","affiliation":[{"name":"Cystic Fibrosis Center, Azienda Ospedaliera Universitaria Integrata, 37126 Verona, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cecilia","family":"Brignole","sequence":"additional","affiliation":[{"name":"Cystic Fibrosis Center, Azienda Ospedaliera Universitaria Integrata, 37126 Verona, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Lucca","sequence":"additional","affiliation":[{"name":"Cystic Fibrosis Center, Azienda Ospedaliera Universitaria Integrata, 37126 Verona, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emily","family":"Pintani","sequence":"additional","affiliation":[{"name":"Cystic Fibrosis Center, Azienda Ospedaliera Universitaria Integrata, 37126 Verona, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8400-5671","authenticated-orcid":false,"given":"Cesare","family":"Danesino","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8698-9547","authenticated-orcid":false,"given":"Simone","family":"Cesaro","sequence":"additional","affiliation":[{"name":"Pediatric Hematology Oncology, Azienda Ospedaliera Universitaria Integrata, 37126 Verona, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Fioredda","sequence":"additional","affiliation":[{"name":"Unit of Hematology, IRCCS G. Gaslini Hospital, 16147 Genoa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5652-7248","authenticated-orcid":false,"given":"Marco","family":"Cipolli","sequence":"additional","affiliation":[{"name":"Cystic Fibrosis Center, Azienda Ospedaliera Universitaria Integrata, 37126 Verona, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,4,5]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1236","DOI":"10.3324\/haematol.2010.025619","article-title":"Inherited bone marrow failure syndromes","volume":"95","author":"Dokal","year":"2010","journal-title":"Haematologica"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1053\/j.seminhematol.2017.04.004","article-title":"Classical inherited bone marrow failure syndromes with high risk for myelodysplastic syndrome and acute myelogenous leukemia","volume":"54","author":"Savage","year":"2017","journal-title":"Semin. 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