{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,12]],"date-time":"2026-08-12T07:30:07Z","timestamp":1786519807127,"version":"build-2736575974"},"reference-count":15,"publisher":"Walter de Gruyter GmbH","issue":"1","license":[{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,1,23]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec id=\"j_crpm-2025-0031_abs_001\">\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>X-linked chondrodysplasia punctata type 1 (CDPX1) is a rare skeletal dysplasia caused by pathogenic variants in ARSL (Arylsulfatase L), formerly known as ARSE (Arylsulfatase E), resulting in defective arylsulfatase E activity and abnormal cartilage matrix formation. It is typically defined by stippled epiphyses, nasomaxillary hypoplasia, and brachytelephalangy, but the condition has phenotypic variability. We report an infant with a pathogenic ARSL variant (NM_000047.3:c.1442C&gt;T; p.Thr481Met) to highlight an exceptionally severe and complex phenotype.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_crpm-2025-0031_abs_002\">\n                    <jats:title>Case presentation<\/jats:title>\n                    <jats:p>A male infant was born at term following a caesarean section. A narrow sacral spine, a flat facial profile and an absent nasal bridge had been detected antenatally. He developed refractory respiratory failure with recurrent lung collapse and pneumothoraces in the first 3\u00a0months, associated with diffuse tracheobronchial calcification and progressive high cervical myelopathy on radiological evaluation. From 5\u00a0months of age, he experienced episodes of abrupt cardiorespiratory arrest linked to\u00a0movement. Stabilisation of the neck markedly reduced those events temporarily, implicating dynamic cervical cord compression as the precipitating mechanism. He required prolonged mechanical ventilation, had recurrent infections and progressive neurological impairment and hydrocephalus warranting long term respiratory and neurosurgical follow up. This case represents one of the first descriptions of movement-related autonomic reflex asystole secondary to cervical cord compromise in ARSL-related CDPX1.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_crpm-2025-0031_abs_003\">\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Our report broadens the clinical spectrum of CDPX1 to include dynamic cervical cord compression with potential secondary autonomic cardiac events. Early genetic confirmation, anticipatory airway and spinal imaging, extensive respiratory and multidisciplinary management are essential for early recognition, prognostication and prevention of potentially fatal outcomes in severe forms of this rare disorder.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1515\/crpm-2025-0031","type":"journal-article","created":{"date-parts":[[2026,8,12]],"date-time":"2026-08-12T06:56:05Z","timestamp":1786517765000},"source":"Crossref","is-referenced-by-count":0,"title":["X-linked ARSL chondrodysplasia punctata: expanding the spectrum with a severe multisystem phenotype"],"prefix":"10.1515","volume":"15","author":[{"given":"Jeffrey","family":"Rajkumar","sequence":"first","affiliation":[{"name":"Neonatal Intensive Care Unit, Kings College Hospital NHS Foundation Trust , London , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ayevbekpen Grace","family":"Okoye","sequence":"additional","affiliation":[{"name":"Neonatal Intensive Care Unit, Kings College Hospital NHS Foundation Trust , London , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Poonam","family":"Belani","sequence":"additional","affiliation":[{"name":"Neonatal Intensive Care Unit, Kings College Hospital NHS Foundation Trust , London , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saira","family":"Haque","sequence":"additional","affiliation":[{"name":"Department of Radiology , Kings College Hospital NHS Foundation Trust , London , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8672-5349","authenticated-orcid":false,"given":"Anne","family":"Greenough","sequence":"additional","affiliation":[{"name":"Neonatal Intensive Care Unit, Kings College Hospital NHS Foundation Trust , London , UK"},{"name":"Department of Women\u2019s and Children, Faculty of Life Sciences and Medicine , School of Life Course Sciences, Kings College , London , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2026,8,13]]},"reference":[{"key":"2026081206560098624_j_crpm-2025-0031_ref_001","doi-asserted-by":"crossref","unstructured":"Broeren, E, Stover, S, Bennett, K, Giordano, J, Galloway, S, Lauzon, J, et al.. Prenatal ultrasonographic features associated with ARSL and X-linked chondrodysplasia punctata (CDPX1): literature review and case series. Prenat Diagn 2024;44:1663\u201370. https:\/\/doi.org\/10.1002\/pd.6649.","DOI":"10.1002\/pd.6649"},{"key":"2026081206560098624_j_crpm-2025-0031_ref_002","doi-asserted-by":"crossref","unstructured":"Brunetti-Pierri, N, Andreucci, MV, Tuzzi, R, Vega, GR, Gray, G, McKeown, C, et al.. X-linked recessive chondrodysplasia punctata: spectrum of arylsulfatase E gene mutations and expanded clinical variability. Am J Med Genet A 2003;117A:164\u20138. https:\/\/doi.org\/10.1002\/ajmg.a.10950.","DOI":"10.1002\/ajmg.a.10950"},{"key":"2026081206560098624_j_crpm-2025-0031_ref_003","unstructured":"Braverman, NE, Bober, MB, Brunetti-Pierri, N, Suchy, SF. Chondrodysplasia punctata 1, X-linked. In: Adam, MP, Everman, DB, Mirzaa, GM, Pagon, RA, editors. GeneReviews\u00ae [internet]. Seattle (WA): University of Washington, Seattle; 1993\u20132020."},{"key":"2026081206560098624_j_crpm-2025-0031_ref_004","doi-asserted-by":"crossref","unstructured":"Daniele, A, Parenti, G, D\u2019Addio, M, Andria, G, Ballabio, A, Meroni, G. Biochemical characterization of arylsulfatase E and functional analysis of mutations found in patients with X-linked chondrodysplasia punctata. Am J Hum Genet 1998;62:562\u201372.https:\/\/doi.org\/10.1086\/301746.","DOI":"10.1086\/301746"},{"key":"2026081206560098624_j_crpm-2025-0031_ref_005","doi-asserted-by":"crossref","unstructured":"Wolpoe, ME, Braverman, NE, Lin, SY. Severe tracheobronchial stenosis in the X-linked recessive form of chondrodysplasia punctata. Arch Otolaryngol Head Neck Surg 2004;130:1423\u20136. https:\/\/doi.org\/10.1001\/archotol.130.12.1423.","DOI":"10.1001\/archotol.130.12.1423"},{"key":"2026081206560098624_j_crpm-2025-0031_ref_006","doi-asserted-by":"crossref","unstructured":"Vogel, TW, Menezes, AH. Natural history and management of cervical spine disease in chondrodysplasia punctata and coumarin embryopathy. Childs Nerv Syst 2012;28:609\u201319. https:\/\/doi.org\/10.1007\/s00381-012-1694-z.","DOI":"10.1007\/s00381-012-1694-z"},{"key":"2026081206560098624_j_crpm-2025-0031_ref_007","doi-asserted-by":"crossref","unstructured":"Garnier, A, Dauger, S, Eurin, D, Parisi, I, Parenti, G, Garel, C, et al.. Brachytelephalangic chondrodysplasia punctata with severe spinal cord compression: report of four new cases. Eur J Pediatr 2007;166:327\u201331. https:\/\/doi.org\/10.1007\/s00431-006-0239-4.","DOI":"10.1007\/s00431-006-0239-4"},{"key":"2026081206560098624_j_crpm-2025-0031_ref_008","doi-asserted-by":"crossref","unstructured":"He, G, Yin, Y, Zhao, J, Wang, X, Yang, J, Chen, X, et al.. Prenatal findings in a fetus with X-linked recessive type of chondrodysplasia punctata (CDPX1): a case report with a novel mutation. BMC Pediatr 2019;19:1\u20136.","DOI":"10.1186\/s12887-019-1629-x"},{"key":"2026081206560098624_j_crpm-2025-0031_ref_009","doi-asserted-by":"crossref","unstructured":"Abd, AG, Braun, NMT. Management of life-threatening bradycardia in spinal cord injury. Chest 1989;95:701\u20132. https:\/\/doi.org\/10.1378\/chest.95.3.701.","DOI":"10.1378\/chest.95.3.701"},{"key":"2026081206560098624_j_crpm-2025-0031_ref_011","doi-asserted-by":"crossref","unstructured":"Nino, M, Matos-Miranda, C, Maeda, M, Chen, L, Allanson, J, Armour, C, et al.. Clinical and molecular analysis of arylsulfatase E in patients with brachytelephalangic chondrodysplasia punctata. Am J Med Genet A 2008;146A:997\u20131008. https:\/\/doi.org\/10.1002\/ajmg.a.32159.","DOI":"10.1002\/ajmg.a.32159"},{"key":"2026081206560098624_j_crpm-2025-0031_ref_010","doi-asserted-by":"crossref","unstructured":"Casarin, A, Rusalen, F, Doimo, M, Trevisson, E, Carraro, S, Clementi, M, et al.. X-linked brachytelephalangic chondrodysplasia punctata: a simple trait that is not so simple. Am J Med Genet A 2009;149A:2464\u20138. https:\/\/doi.org\/10.1002\/ajmg.a.33039.","DOI":"10.1002\/ajmg.a.33039"},{"key":"2026081206560098624_j_crpm-2025-0031_ref_012","doi-asserted-by":"crossref","unstructured":"Matos-Miranda, C, Nimmo, G, Williams, B, Tysoe, C, Owens, M, Bale, S, et al.. A prospective study of brachytelephalangic chondrodysplasia punctata: identification of arylsulfatase E mutations, functional analysis of novel missense alleles, and determination of potential phenocopies. Genet Med 2013;15:650\u20137. https:\/\/doi.org\/10.1038\/gim.2013.13.","DOI":"10.1038\/gim.2013.13"},{"key":"2026081206560098624_j_crpm-2025-0031_ref_013","doi-asserted-by":"crossref","unstructured":"Violas, P, Fraisse, B, Chapuis, M, Bracq, H. Cervical spine stenosis in chondrodysplasia punctata. J\u00a0Pediatr Orthop B 2007;16:443\u20135. https:\/\/doi.org\/10.1097\/bpb.0b013e3282f05675.","DOI":"10.1097\/BPB.0b013e3282f05675"},{"key":"2026081206560098624_j_crpm-2025-0031_ref_014","doi-asserted-by":"crossref","unstructured":"Franga, DL, Hawkins, ML, Medeiros, RS, Adewumi, D. Recurrent asystole resulting from high cervical spinal cord injuries. Am Surg 2006;72:525\u20139. https:\/\/doi.org\/10.1177\/000313480607200613.","DOI":"10.1177\/000313480607200613"},{"key":"2026081206560098624_j_crpm-2025-0031_ref_015","unstructured":"Wren, KR, Wren, TL. Asystole during elective cervical spine surgery: a case study. AANA J 2022;90:46\u20139."}],"container-title":["Case Reports in Perinatal Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.degruyterbrill.com\/document\/doi\/10.1515\/crpm-2025-0031\/xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.degruyterbrill.com\/document\/doi\/10.1515\/crpm-2025-0031\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,12]],"date-time":"2026-08-12T06:56:08Z","timestamp":1786517768000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.degruyterbrill.com\/document\/doi\/10.1515\/crpm-2025-0031\/html"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,1,1]]},"references-count":15,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2026,8,13]]},"published-print":{"date-parts":[[2026,1,23]]}},"alternative-id":["10.1515\/crpm-2025-0031"],"URL":"https:\/\/doi.org\/10.1515\/crpm-2025-0031","relation":{},"ISSN":["2192-8959"],"issn-type":[{"value":"2192-8959","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,1,1]]},"article-number":"20250031"}}