{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,15]],"date-time":"2026-01-15T08:01:13Z","timestamp":1768464073292,"version":"3.49.0"},"reference-count":67,"publisher":"MDPI AG","issue":"17","license":[{"start":{"date-parts":[[2022,9,2]],"date-time":"2022-09-02T00:00:00Z","timestamp":1662076800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>A case report of an 11-year-old boy with a de novo variant in NOTCH2 and clinical features characteristic of Hajdu-Cheney syndrome is reported, with acroosteolysis of the distal phalanges of the feet and hands, generalized osteoporosis, musculoskeletal and craniofacial alterations, short stature, bowing of long bones, vertebral anomalies, genu recurvatum, hypertrichosis, joint and skin hyperlaxity, atopic dermatitis, megalocorneas, micrognathia and frequent respiratory infections, among others. Treatment is with bisphosphonates in the framework of bone density improvement and with focal vibration therapy for rehabilitation of the musculoskeletal system and gait improvement. The three generalities of this pathology\u2014phenotypic variability, degenerative character and the presence of generalized osteoporosis and acroosteolysis of the distal phalanges\u2014are seen in this case, whose diagnostic confirmation was made by genetic study.<\/jats:p>","DOI":"10.3390\/jcm11175205","type":"journal-article","created":{"date-parts":[[2022,9,6]],"date-time":"2022-09-06T20:52:51Z","timestamp":1662497571000},"page":"5205","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Hajdu-Cheney Syndrome: A Novel NOTCH2 Mutation in a Spanish Child in Treatment with Vibrotherapy: A Case Report"],"prefix":"10.3390","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4019-8555","authenticated-orcid":false,"given":"Jonathan","family":"Cort\u00e9s-Mart\u00edn","sequence":"first","affiliation":[{"name":"Research Group CTS1068, Andalusia Research Plan, Junta de Andaluc\u00eda, 18014 Granada, Spain"},{"name":"School of Nursing, Faculty of Health Sciences, University of Granada, 18071 Granada, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7906-5656","authenticated-orcid":false,"given":"Lourdes","family":"D\u00edaz-Rodr\u00edguez","sequence":"additional","affiliation":[{"name":"Research Group CTS1068, Andalusia Research Plan, Junta de Andaluc\u00eda, 18014 Granada, Spain"},{"name":"School of Nursing, Faculty of Health Sciences, University of Granada, 18071 Granada, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Beatriz","family":"Piqueras-Sola","sequence":"additional","affiliation":[{"name":"Research Group CTS1068, Andalusia Research Plan, Junta de Andaluc\u00eda, 18014 Granada, Spain"},{"name":"Hospital University Virgen de las Nieves, 18014 Granada, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4650-2159","authenticated-orcid":false,"given":"Juan Carlos","family":"S\u00e1nchez-Garc\u00eda","sequence":"additional","affiliation":[{"name":"Research Group CTS1068, Andalusia Research Plan, Junta de Andaluc\u00eda, 18014 Granada, Spain"},{"name":"School of Nursing, Faculty of Health Sciences, University of Granada, 18071 Granada, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonio Li\u00f1\u00e1n","family":"Gonz\u00e1lez","sequence":"additional","affiliation":[{"name":"Research Group CTS1068, Andalusia Research Plan, Junta de Andaluc\u00eda, 18014 Granada, Spain"},{"name":"School of Nursing, Faculty of Health Sciences, Melilla Campus, University of Granada, 52005 Melilla, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2086-1222","authenticated-orcid":false,"given":"Raquel","family":"Rodr\u00edguez-Blanque","sequence":"additional","affiliation":[{"name":"Research Group CTS1068, Andalusia Research Plan, Junta de Andaluc\u00eda, 18014 Granada, Spain"},{"name":"School of Nursing, Faculty of Health Sciences, University of Granada, 18071 Granada, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2022,9,2]]},"reference":[{"key":"ref_1","unstructured":"(2005). Enfermedades Raras: Comprender Esta Prioridad de Salud P\u00fablica, Organizaci\u00f3n Europea de Enfermedades Raras de Par\u00eds."},{"key":"ref_2","unstructured":"(2022, July 31). Orphanet. Available online: https:\/\/www.orpha.net\/consor\/cgi-bin\/Disease.php?lng=ES."},{"key":"ref_3","unstructured":"(2022, July 31). OMIM. Available online: https:\/\/www.omim.org\/entry\/102500?search=%22hajdu-cheney syndrome%22&highlight=0%2C spanNear%28%5BspanOr%28%5Bhajducheney%2C%7CspanNear%28%5Bhajdu%2C%7Ccheney%5D%2C%7C0%2C%7Ctrue%29%5D%29%2CspanOr%28%5Bsyndromic%2C%7Csyndrome%5D%29%5D%2C true%29."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"118","DOI":"10.1002\/ajmg.a.20181","article-title":"Talo-patello-scaphoid osteolysis, synovitis, and short fourth metacarpals in sisters: A new syndrome?","volume":"121A","author":"Singh","year":"2003","journal-title":"Am. J. Med. Genet."},{"key":"ref_5","unstructured":"(2022, July 31). Orphanet: Acroosteolisis Tipo Dominante. Available online: https:\/\/www.orpha.net\/consor\/cgi-bin\/Disease_Search.php?lng=ES&data_id=1276&Disease_Disease_Search_diseaseGroup=Hajdu-cheney&Disease_Disease_Search_diseaseType=Pat&Enfermedad(es)\/grupo%20de%20enfermedad-es=Acroosteolisis-tipo-dominante&title=Acroosteolisis%20tip."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1038\/ng.779","article-title":"Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss","volume":"43","author":"Simpson","year":"2011","journal-title":"Nat. Genet."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"88","DOI":"10.1097\/MCD.0000000000000034","article-title":"Hajdu-Cheney syndrome: Phenotypical progression with de-novo NOTCH2 mutation","volume":"23","author":"Descartes","year":"2014","journal-title":"Clin. Dysmorphol."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"1114","DOI":"10.1002\/humu.21546","article-title":"Mutations in NOTCH2 in families with Hajdu-Cheney syndrome","volume":"32","author":"Majewski","year":"2011","journal-title":"Hum. Mutat."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1259\/0007-1285-21-241-42","article-title":"Cranio-skeletal dysplasia","volume":"21","author":"Hajdu","year":"1948","journal-title":"Br. J. Radiol."},{"key":"ref_10","first-page":"595","article-title":"Acro-Osteolysis","volume":"94","author":"Cheney","year":"1965","journal-title":"Am. J. Roentgenol. Radium Ther. Nucl. Med."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"292","DOI":"10.1002\/1096-8628(20010515)100:4<292::AID-AJMG1308>3.0.CO;2-4","article-title":"Hajdu-Cheney syndrome: Evolution of phenotype and clinical problems","volume":"100","author":"Brennan","year":"2001","journal-title":"Am. J. Med. Genet."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1016\/j.ejmg.2018.04.015","article-title":"Phenotype variability in Hajdu-Cheney syndrome","volume":"62","author":"Regev","year":"2019","journal-title":"Eur. J. Med. Genet."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"573","DOI":"10.1016\/S0022-3476(76)80009-1","article-title":"The acro-osteolysis syndrome: Morphologic and biochemical studies","volume":"88","author":"Brown","year":"1976","journal-title":"J. Pediatr."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"198","DOI":"10.3899\/jrheum.080859","article-title":"A patient with progressive shortening of the fingers","volume":"36","author":"Letchumanan","year":"2009","journal-title":"J. Rheumatol."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"1831","DOI":"10.1902\/jop.2007.060385","article-title":"Periodontitis Associated with Hajdu-Cheney Syndrome","volume":"78","author":"Vrahopoulos","year":"2007","journal-title":"J. Periodontol."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"951","DOI":"10.1515\/JPEM.2000.13.7.951","article-title":"Hajdu-Cheney syndrome with growth hormone deficiency and neuropathy","volume":"13","author":"Siklar","year":"2000","journal-title":"J. Pediatr. Endocrinol. Metab."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"712","DOI":"10.1007\/s004670050196","article-title":"Kidney abnormalities in Hajdu-Cheney syndrome","volume":"10","author":"Barakat","year":"1996","journal-title":"Pediatr. Nephrol."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1016\/j.kjms.2012.10.009","article-title":"Hajdu-Cheney syndrome with ventricular septal defect","volume":"29","author":"Sargin","year":"2013","journal-title":"Kaohsiung J. Med. Sci."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1007\/s00247-008-0992-9","article-title":"Hajdu-Cheney syndrome associated with serpentine fibulae and polycystic kidney disease","volume":"39","author":"Currarino","year":"2009","journal-title":"Pediatr. Radiol."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"950","DOI":"10.3171\/jns.1997.86.6.0950","article-title":"Basilar invagination in osteogenesis imperfecta and related osteochondrodysplasias: Medical and surgical management","volume":"86","author":"Sawin","year":"1997","journal-title":"J. Neurosurg."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1007\/BF01403708","article-title":"Syringohydromyelia in Hajdu-Cheney syndrome","volume":"26","author":"Nishimura","year":"1996","journal-title":"Pediatr. Radiol."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"901","DOI":"10.1007\/s00117-005-1272-4","article-title":"Junge frau mit r\u00fcckenschmerzen und akroosteolysen","volume":"46","author":"Schawo","year":"2006","journal-title":"Radiologe"},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"276","DOI":"10.1136\/ard.53.4.276","article-title":"Hajdu-Cheney syndrome","volume":"53","author":"Shaw","year":"1994","journal-title":"Ann. Rheum. Dis."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"718","DOI":"10.1002\/art.1780300621","article-title":"Genetics of the hajdu-cheney syndrome","volume":"30","author":"Gibofsky","year":"1987","journal-title":"Arthritis Rheum."},{"key":"ref_25","doi-asserted-by":"crossref","unstructured":"Cort\u00e9s-Mart\u00edn, J., D\u00edaz-Rodr\u00edguez, L., Piqueras-Sola, B., S\u00e1nchez-Garc\u00eda, J.C., Menor-Rodr\u00edguez, M.J., and Rodr\u00edguez-Blanque, R. (2022). Nursing Care Plan for Patients with Hajdu-Cheney Syndrome. Int. J. Environ. Res. Public Health, 19.","DOI":"10.3390\/ijerph19127489"},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/s13023-018-0795-5","article-title":"Bisphosphonate therapy for spinal osteoporosis in Hajdu-Cheney syndrome\u2014New data and literature review","volume":"13","author":"Pittaway","year":"2018","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"372","DOI":"10.1016\/j.anpedi.2011.06.004","article-title":"La prueba de cribado del inventario de desarrollo de Battelle para la detecci\u00f3n precoz de alteraciones del desarrollo en par\u00e1lisis cerebral","volume":"75","year":"2011","journal-title":"An. Pediatr."},{"key":"ref_28","first-page":"66","article-title":"Vibroterapia en la inhibici\u00f3n de la espasticidad asociada a la enfermedad motriz cerebral","volume":"4","author":"Padilla","year":"2003","journal-title":"Rev. Iberoam. Fisioter. Kinesiol."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"224","DOI":"10.3399\/bjgp18X695957","article-title":"Dare to think rare: Diagnostic delay and rare diseases","volume":"68","author":"Evans","year":"2018","journal-title":"Br. J. Gen. Pract."},{"key":"ref_30","unstructured":"Feder (2022, July 31). Enfermedades Raras. Available online: https:\/\/www.enfermedades-raras.org\/enfermedades-raras\/conoce-mas-sobre-er."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1007\/BF00440497","article-title":"Arthro-Dento-Osteo Dysplasia (Hajdu-Cheney Syndrome)","volume":"114","author":"Herrmann","year":"1973","journal-title":"Z. Kinderheilk."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"153","DOI":"10.2106\/00004623-196749010-00015","article-title":"Pycnodysostosis: A review","volume":"49","author":"Elmore","year":"2019","journal-title":"J. Bone Jt. Surg. Am."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"518","DOI":"10.1002\/ajmg.a.35772","article-title":"Clinical consequences in truncating mutations in exon 34 of NOTCH2: Report of six patients with Hajdu-Cheney syndrome and a patient with serpentine fibula polycystic kidney syndrome","volume":"161","author":"Narumi","year":"2013","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"103023","DOI":"10.1016\/j.amsu.2021.103023","article-title":"Hajdu Cheney syndrome; A novel NOTCH2 mutation in a Syrian child, and treatment with zolidronic acid: A case report and a literature review of treatments","volume":"71","author":"Ahmad","year":"2021","journal-title":"Ann. Med. Surg."},{"key":"ref_35","first-page":"2508345","article-title":"Congenital Glaucoma: A Novel Ocular Manifestation of Hajdu-Cheney Syndrome","volume":"2018","author":"Swan","year":"2018","journal-title":"Case Rep. Genet."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1136\/jmg.30.2.175","article-title":"Hydrocephalus in Hajdu-Cheney syndrome","volume":"30","author":"Ades","year":"1993","journal-title":"J. Med. Genet."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"831","DOI":"10.1111\/j.1442-200X.2009.02927.x","article-title":"Hajdu-Cheney syndrome: Infantile onset of hydrocephalus and serpentine fibulae","volume":"51","author":"Takatani","year":"2009","journal-title":"Pediatr. Int."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"352","DOI":"10.1055\/s-0029-1231682","article-title":"Die Akroosteolysis, ein neues Krankheitsbild","volume":"72","author":"Harnasch","year":"1949","journal-title":"R\u00f6Fo-Fortschr. Geb. R\u00f6ntgenstrahlen Bildgeb. Verfahr."},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"116","DOI":"10.1007\/BF00973535","article-title":"Sporadic idiopathic acro-osteolysis with cranio-skeletal dysplasia, polycystic kidneys and glomerulonephritis: A case of the hajdu-cheney syndrome","volume":"6","author":"Rosenmann","year":"1977","journal-title":"Pediatr. Radiol."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"627","DOI":"10.1016\/0002-9343(78)90851-3","article-title":"Hereditary osteodysplasia with acro-osteolysis (the Hajdu-Cheney syndrome)","volume":"65","author":"Elias","year":"1978","journal-title":"Am. J. Med."},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"2036","DOI":"10.1359\/jbmr.1999.14.12.2036","article-title":"Severe osteoporosis in familial Hajdu-Cheney syndrome: Progression of acro-osteolysis and osteoporosis during long-term follow-up","volume":"14","author":"Pfeilschifter","year":"1999","journal-title":"J. Bone Miner. Res."},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"366","DOI":"10.1016\/j.bone.2012.10.027","article-title":"Severe osteoporosis and mutation in NOTCH2 gene in a woman with Hajdu-Cheney syndrome","volume":"52","author":"Stathopoulos","year":"2013","journal-title":"Bone"},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1007\/BF03349553","article-title":"High turnover osteoporosis in acro-osteolysis (Hajdu-Cheney syndrome)","volume":"13","author":"Nunziata","year":"1990","journal-title":"J. Endocrinol. Investig. Off. J. Ital. Soc. Endocrinol."},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"25","DOI":"10.14531\/ss2019.1.25-31","article-title":"Surgical treatment of a patient with multiple fractures of the thoracic and lumbar vertebrae associated with Hajdu-Cheney syndrome","volume":"16","author":"Vissarionov","year":"2019","journal-title":"Hir. Pozvonochnika"},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"702","DOI":"10.1259\/0007-1285-37-441-702","article-title":"Cranio-skeletal dysplasia with acro-osteolysis","volume":"37","author":"Chawla","year":"1964","journal-title":"Br. J. Radiol."},{"key":"ref_46","first-page":"P73.E1","article-title":"Hand Deformities in Hajdu-Cheney Syndrome: A Case Series of 3 Patients Across 3 Consecutive Generations","volume":"46","author":"Caballero","year":"2020","journal-title":"J. Hand Surg. Am."},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"363","DOI":"10.1001\/jama.1964.03060300025005","article-title":"Hereditary Osteolysis with Hypertension and Nephropathy","volume":"188","author":"Shurtleff","year":"1964","journal-title":"J. Am. Med. Assoc."},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1016\/j.anpedi.2012.11.025","article-title":"Acrooste\u00f3lisis en un paciente de 4 a\u00f1os: Datos cl\u00ednicos del s\u00edndrome de Hajdu-Cheney","volume":"79","author":"Ventosa","year":"2013","journal-title":"An. Pediatr."},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1148\/69.2.259","article-title":"Idiopathic Non-Familial Aero-Osteolysis","volume":"69","author":"Greenberg","year":"1957","journal-title":"Radiology"},{"key":"ref_50","first-page":"101","article-title":"S\u00edndrome de Hajdu Cheney, una enfermedad poco frecuente","volume":"27","year":"2013","journal-title":"Rev. CES Med."},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1002\/bjs.1800640117","article-title":"Foramen magnum impaction in a case of acro-osteolysis","volume":"64","author":"Williams","year":"1977","journal-title":"Br. J. Surg."},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1016\/S0022-3476(76)80989-4","article-title":"The Hajdu-Cheney syndrome. Report of two cases and review of the literature","volume":"88","author":"Weleber","year":"1976","journal-title":"J. Pediatr."},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"190","DOI":"10.1111\/ped.13764","article-title":"Fatal case of Hajdu-Cheney syndrome with idiopathic pulmonary hemosiderosis","volume":"61","author":"Sasaki","year":"2019","journal-title":"Pediatr. Int."},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"934","DOI":"10.1259\/0007-1285-42-504-934","article-title":"Acro-osteolysis and bone fragility","volume":"42","author":"Shaw","year":"1969","journal-title":"Br. J. Radiol."},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"1037","DOI":"10.1111\/odi.12859","article-title":"Dental implications in Hajdu-Cheney syndrome: A novel case report and review of the literature","volume":"24","author":"Lee","year":"2018","journal-title":"Oral Dis."},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"725","DOI":"10.1067\/moe.2003.151","article-title":"Hajdu-Cheney syndrome (acro-osteolysis): A case report of dental interest","volume":"95","author":"Antoniades","year":"2003","journal-title":"Oral Surg. Oral Med. Oral Pathol. Oral Radiol. Endod."},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"645","DOI":"10.1597\/09-030","article-title":"Syndrome of Hajdu-Cheney: Three case reports of orofacial interest","volume":"47","author":"Vingerhoedt","year":"2010","journal-title":"Cleft Palate-Craniofacial J."},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"4163","DOI":"10.1210\/jc.2017-01102","article-title":"Bone Structural Characteristics and Response to Bisphosphonate Treatment in Children with Hajdu-Cheney Syndrome","volume":"102","author":"Sakka","year":"2017","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"ref_59","first-page":"283","article-title":"Two-year cyclic infusion of pamidronate improves bone mass density and eliminates risk of fractures in a girl with osteoporosis due to Hajdu-Cheney syndrome","volume":"37","author":"Kyrgios","year":"2012","journal-title":"Minerva Endocrinol."},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"1672","DOI":"10.1136\/ard.2005.035725","article-title":"Cyclic intravenous pamidronate treatment in children with nodulosis, arthropathy and osteolysis syndrome","volume":"65","author":"Madi","year":"2006","journal-title":"Ann. Rheum. Dis."},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1097\/01720610-200805000-00010","article-title":"Spinal reconstruction in Hajdu-Cheney syndrome","volume":"21","author":"Moquin","year":"2008","journal-title":"JAAPA"},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1111\/j.1440-1673.1994.tb00183.x","article-title":"Hajdu-Cheney syndrome in a 3 1\/2 year old girl","volume":"38","author":"Zeman","year":"1994","journal-title":"Australas. Radiol."},{"key":"ref_63","doi-asserted-by":"crossref","first-page":"649","DOI":"10.1111\/j.1460-9592.2009.02977.x","article-title":"Anesthesia for a child with Hajdu-Cheney syndrome","volume":"19","author":"August","year":"2009","journal-title":"Paediatr. Anaesth."},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"949","DOI":"10.1007\/s00540-013-1642-4","article-title":"A case report of anesthesia for a child with Hajdu-Cheney syndrome","volume":"27","author":"Yamaguchi","year":"2013","journal-title":"J. Anesth."},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"318","DOI":"10.1111\/1744-9987.12444","article-title":"End-Stage Renal Disease in an Infant With Hajdu-Cheney Syndrome","volume":"20","author":"Battelino","year":"2016","journal-title":"Ther. Apher. Dial."},{"key":"ref_66","doi-asserted-by":"crossref","first-page":"2883","DOI":"10.4103\/0366-6999.219141","article-title":"A Novel Mutation of Notch homolog protein 2 gene in a Chinese Family with Hajdu-Cheney Syndrome","volume":"130","author":"Gong","year":"2017","journal-title":"Chin. Med. J. (Engl.)"},{"key":"ref_67","doi-asserted-by":"crossref","first-page":"103650","DOI":"10.1016\/j.ejmg.2019.04.007","article-title":"Phenotypic presentations of Hajdu-Cheney syndrome according to age\u20145 distinct clinical presentations","volume":"63","author":"Graversen","year":"2019","journal-title":"Eur. J. Med. Genet."}],"container-title":["Journal of Clinical Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2077-0383\/11\/17\/5205\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T00:22:37Z","timestamp":1760142157000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2077-0383\/11\/17\/5205"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,9,2]]},"references-count":67,"journal-issue":{"issue":"17","published-online":{"date-parts":[[2022,9]]}},"alternative-id":["jcm11175205"],"URL":"https:\/\/doi.org\/10.3390\/jcm11175205","relation":{},"ISSN":["2077-0383"],"issn-type":[{"value":"2077-0383","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,9,2]]}}}