{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,18]],"date-time":"2025-09-18T02:11:40Z","timestamp":1758161500790,"version":"3.44.0"},"reference-count":8,"publisher":"Mathematical Modelling and Numerical Simulation with Applications","issue":"03","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Pediatr Genet"],"published-print":{"date-parts":[[2024,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Wolcott\u2013Rallison's syndrome (WRS) is a rare nonautoimmune autosomal recessive disorder characterized by neonatal diabetes mellitus, epiphyseal dysplasia, and growth retardation. This is the most common cause of diabetes mellitus in patients with consanguineous parents. WRS is distinguished from other types of neonatal or early-onset diabetes by clinical characteristics and genetic testing. Here, we report four cases of WRS from South India. All four children reported here were born to consanguineous parents and were diagnosed with neonatal diabetes and skeletal dysplasia. Case 1 is a 13-year-old girl with neonatal diabetes and skeletal dysplasia. Case 2 is a 6-month-old male infant who also has primary hypothyroidism. Case 3 was a girl who lived until the age of 4 years before succumbing to liver failure. Case 4 is an 8-month-old female infant born to a third-degree married couple who presented with neonatal diabetes and diabetic ketoacidosis. Genetic testing revealed that she had WRS, which helps us in the anticipation and early treatment of complications.<\/jats:p>","DOI":"10.1055\/s-0043-57005","type":"journal-article","created":{"date-parts":[[2023,4,18]],"date-time":"2023-04-18T19:05:46Z","timestamp":1681844746000},"page":"185-189","source":"Crossref","is-referenced-by-count":0,"title":["Clinical Experience from a Single Tertiary Care Center: Neonatal Diabetes Mellitus with Multiple Epiphyseal Dysplasia\u2014Wolcott\u2013Rallison's Syndrome"],"prefix":"10.53391","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8161-989X","authenticated-orcid":false,"given":"Shantala","family":"J.","sequence":"additional","affiliation":[{"name":"Department of Paediatric and Adolescent Endocrinology, Indira Gandhi Institute of Child Health, Bengaluru, Karnataka, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5783-643X","authenticated-orcid":false,"given":"Zalak","family":"Upadhyay","sequence":"additional","affiliation":[{"name":"Endokids Care, Bengaluru, Karnataka, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8320-0897","authenticated-orcid":false,"given":"Vani H.","family":"N.","sequence":"additional","affiliation":[{"name":"Department of Paediatric and Adolescent Endocrinology, Indira Gandhi Institute of Child Health, Bengaluru, Karnataka, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5760-3329","authenticated-orcid":false,"given":"Santhosh Olety","family":"Sathyanarayana","sequence":"additional","affiliation":[{"name":"Department of Paediatric and Adolescent Endocrinology, Karnataka Institute of Diabetology, Bengaluru, Karnataka, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7448-586X","authenticated-orcid":false,"given":"Raghupathy","family":"Palany","sequence":"additional","affiliation":[{"name":"Department of Paediatric and Adolescent Endocrinology, Indira Gandhi Institute of Child Health, Bengaluru, Karnataka, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2081-3634","authenticated-orcid":false,"given":"Shruthi","family":"J.","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Sher-I-Kashmir Institute of Medical Sciences, Srinagar, Jammu and Kashmir, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"31409","published-online":{"date-parts":[[2023,4,18]]},"reference":[{"issue":"02","key":"ref1","doi-asserted-by":"crossref","first-page":"292","DOI":"10.1016\/S0022-3476(72)80596-1","article-title":"Infancy-onset diabetes mellitus and multiple epiphyseal dysplasia","volume":"80","author":"C D Wolcott","year":"1972","journal-title":"J Pediatr"},{"issue":"03","key":"ref2","doi-asserted-by":"crossref","first-page":"190","DOI":"10.1159\/000369804","article-title":"Liver disease and other comorbidities in Wolcott-Rallison syndrome: different phenotype and variable associations in a large cohort","volume":"83","author":"A M Habeb","year":"2015","journal-title":"Horm Res Paediatr"},{"key":"ref3","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1186\/s13023-016-0397-z","article-title":"Os odontoideum in Wolcott-Rallison syndrome: a case series of 4 patients","volume":"11","author":"R P Dias","year":"2016","journal-title":"Orphanet J Rare Dis"},{"issue":"07","key":"ref4","doi-asserted-by":"crossref","first-page":"1876","DOI":"10.2337\/diabetes.53.7.1876","article-title":"Wolcott-Rallison syndrome: clinical, genetic, and functional study of EIF2AK3 mutations and suggestion of genetic heterogeneity","volume":"53","author":"V Sen\u00e9e","year":"2004","journal-title":"Diabetes"},{"issue":"11","key":"ref5","doi-asserted-by":"crossref","first-page":"4162","DOI":"10.1210\/jc.2009-1137","article-title":"Wolcott-Rallison syndrome is the most common genetic cause of permanent neonatal diabetes in consanguineous families","volume":"94","author":"O Rubio-Cabezas","year":"2009","journal-title":"J Clin Endocrinol Metab"},{"issue":"01","key":"ref6","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1007\/s13312-017-0993-6","article-title":"Neonatal diabetes: a case series","volume":"54","author":"R Ganesh","year":"2017","journal-title":"Indian Pediatr"},{"issue":"05","key":"ref7","doi-asserted-by":"crossref","first-page":"439","DOI":"10.1111\/j.1399-0004.2012.01939.x","article-title":"Clinical and molecular characterization of neonatal diabetes and monogenic syndromic diabetes in Asian Indian children","volume":"83","author":"S Jahnavi","year":"2013","journal-title":"Clin Genet"},{"issue":"01","key":"ref8","doi-asserted-by":"crossref","first-page":"79","DOI":"10.4103\/ijem.ijem_429_21","article-title":"Genetic heterogeneity and challenges in the management of permanent neonatal diabetes mellitus: a single-centre study from South India","volume":"26","author":"S Korula","year":"2022","journal-title":"Indian J Endocrinol Metab"}],"container-title":["Journal of Pediatric Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/s-0043-57005.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,17]],"date-time":"2025-09-17T19:46:08Z","timestamp":1758138368000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/s-0043-57005"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,4,18]]},"references-count":8,"journal-issue":{"issue":"03","published-online":{"date-parts":[[2024,7,30]]},"published-print":{"date-parts":[[2024,9]]}},"URL":"https:\/\/doi.org\/10.1055\/s-0043-57005","archive":["Portico","CLOCKSS"],"relation":{},"ISSN":["2146-4596","2146-460X"],"issn-type":[{"type":"print","value":"2146-4596"},{"type":"electronic","value":"2146-460X"}],"subject":[],"published":{"date-parts":[[2023,4,18]]}}}