{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,2]],"date-time":"2026-09-02T20:42:03Z","timestamp":1788381723749,"version":"build-2803163510"},"reference-count":20,"publisher":"MDPI AG","issue":"1","license":[{"start":{"date-parts":[[2022,1,8]],"date-time":"2022-01-08T00:00:00Z","timestamp":1641600000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Medicina"],"abstract":"<jats:p>Background and Objectives: Diagnostic delay is common in attenuated Mucopolysaccharidosis Type I (MPS Ia) due to the rarity of the disease and the variability of clinical presentation. Short stature and impaired growth velocity are frequent findings in MPS Ia, but they rarely raise suspicion as paediatric endocrinologists are generally poorly trained to detect earlier and milder clinical signs of this condition. Materials and Methods: Following a consensus-based methodology, a multidisciplinary panel including paediatric endocrinologists, paediatricians with expertise in metabolic disorders, radiologists, and rheumatologists shared their experience on a possible clinical approach to the diagnosis of MPS Ia in children with short stature or stunted growth. Results: The result was the formation of an algorithm that illustrates how to raise the suspicion of MPS Ia in a patient older than 5 years with short stature and suggestive clinical signs. Conclusion: The proposed algorithm may represent a useful tool to improve the awareness of paediatric endocrinologists and reduce the diagnostic delay for patients with MPS Ia.<\/jats:p>","DOI":"10.3390\/medicina58010097","type":"journal-article","created":{"date-parts":[[2022,1,9]],"date-time":"2022-01-09T23:06:15Z","timestamp":1641769575000},"page":"97","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Proposal of an Algorithm to Early Detect Attenuated Type I Mucopolysaccharidosis (MPS Ia) among Children with Growth Abnormalities"],"prefix":"10.3390","volume":"58","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3470-6880","authenticated-orcid":false,"given":"Federico","family":"Baronio","sequence":"first","affiliation":[{"name":"Department of Medical and Surgical Sciences, University of Bologna, 40138 Bologna, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefano","family":"Zucchini","sequence":"additional","affiliation":[{"name":"Department of Medical and Surgical Sciences, University of Bologna, 40138 Bologna, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesco","family":"Zulian","sequence":"additional","affiliation":[{"name":"Rheumatology Unit, Department of Woman\u2019s and Child\u2019s Health, University of Padua, 35128 Padua, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariacarolina","family":"Salerno","sequence":"additional","affiliation":[{"name":"Pediatric Endocrine Unit, Department of Translational Medical Sciences, University of Naples Federico II, 80131 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4505-1306","authenticated-orcid":false,"given":"Rossella","family":"Parini","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Milano-Bicocca University, Fondazione MBBM, San Gerardo Hospital, 20900 Monza, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6933-6723","authenticated-orcid":false,"given":"Alessandro","family":"Cattoni","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Milano-Bicocca University, Fondazione MBBM, San Gerardo Hospital, 20900 Monza, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Federica","family":"Deodato","sequence":"additional","affiliation":[{"name":"Division of Metabolic Disease, Bambino Ges\u00f9 Children\u2019s Hospital IRCSS, 00165 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alberto","family":"Gaeta","sequence":"additional","affiliation":[{"name":"Radiology Unit, Pediatric Hospital Giovanni XXIII, 70123 Bari, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5616-9185","authenticated-orcid":false,"given":"Carla","family":"Bizzarri","sequence":"additional","affiliation":[{"name":"Unit of Endocrinology, Bambino Ges\u00f9 Children\u2019s Hospital, 00165 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8743-4407","authenticated-orcid":false,"given":"Serena","family":"Gasperini","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Milano-Bicocca University, Fondazione MBBM, San Gerardo Hospital, 20900 Monza, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0379-9562","authenticated-orcid":false,"given":"Andrea","family":"Pession","sequence":"additional","affiliation":[{"name":"Department of Medical and Surgical Sciences, University of Bologna, 40138 Bologna, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,1,8]]},"reference":[{"key":"ref_1","unstructured":"Scriver, C., Beaudet, A., Sly, W., and Valle, D. 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