{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,27]],"date-time":"2026-06-27T11:55:16Z","timestamp":1782561316583,"version":"3.54.5"},"reference-count":10,"publisher":"Walter de Gruyter GmbH","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2018,5,24]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_jpem-2017-0317_s_999_w2aab3b7b6b1b6b1aab1c16b1Aa\">\n                  <jats:title>Backgorund:<\/jats:title>\n                  <jats:p>Sanjad-Sakati syndrome (SSS) is a rare autosomal recessive disease caused by a deletion mutation (155\u2013166del) in exon 3 of the <jats:italic>TBCE<\/jats:italic> gene on chromosome 1q42-43. The syndrome is characterized by primary hypoparathyroidism, typical dysmorphic features and severe growth retardation.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2017-0317_s_998_w2aab3b7b6b1b6b1aab1c16b2Aa\">\n                  <jats:title>Case presentation:<\/jats:title>\n                  <jats:p>We encountered a 2-year-old boy with hypocalcemia, failure to thrive and macrocytic anemia. The patient had the characteristic features of SSS and genetic testing confirmed that he was homozygous for the <jats:italic>TBCE<\/jats:italic> mutation. Although malabsorption was initially considered the cause of his symptoms, the results did not confirm that diagnosis. Our patient had cow milk protein allergy and folic acid deficiency, which has not been described in previous SSS cases. It was difficult to treat the patient\u2019s hyperphosphatemia and we ultimately selected sevelamer treatment, which was tolerated well and improved his hypocalcemia.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2017-0317_s_997_w2aab3b7b6b1b6b1aab1c16b3Aa\">\n                  <jats:title>Conclusions:<\/jats:title>\n                  <jats:p>SSS should be considered in the differential diagnosis of any infant with hypocalcemia, dysmorphism and failure to thrive.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpem-2017-0317","type":"journal-article","created":{"date-parts":[[2018,4,12]],"date-time":"2018-04-12T07:47:11Z","timestamp":1523519231000},"page":"581-584","source":"Crossref","is-referenced-by-count":5,"title":["Sanjad-Sakati syndrome with macrocytic anemia and failure to thrive: a case from South Jordan"],"prefix":"10.1515","volume":"31","author":[{"given":"Salma A.","family":"Ajarmeh","sequence":"first","affiliation":[{"name":"Department of Pediatrics , Faculty of Medicine , Mutah University , 61710 Karak , Jordan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eyad M.","family":"Al Tamimi","sequence":"additional","affiliation":[{"name":"Pediatric Department , Faculty of Medicine , Jordan University of Science and Technology , Irbid , Jordan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2018,3,1]]},"reference":[{"key":"2021021322190160993_j_jpem-2017-0317_ref_001_w2aab3b7b6b1b6b1ab2b2b1Aa","unstructured":"Sanjad S, Sakati N, Abu-Osba Y. Congenital hypoparathyroidism with dysmorphic features-a new syndrome. J Pediat 1988;23:271A."},{"key":"2021021322190160993_j_jpem-2017-0317_ref_002_w2aab3b7b6b1b6b1ab2b2b2Aa","doi-asserted-by":"crossref","unstructured":"Richardson RJ, Kirk JM. Short stature, mental retardation, and hypoparathyroidism: a new syndrome. Arch Dis Child 1990;65:1113\u20137.","DOI":"10.1136\/adc.65.10.1113"},{"key":"2021021322190160993_j_jpem-2017-0317_ref_003_w2aab3b7b6b1b6b1ab2b2b3Aa","doi-asserted-by":"crossref","unstructured":"Sanjad S, Sakati N, Abu-Osba Y, Kaddoura R, Milner R. A new syndrome of congenital hypoparathyroidism, severe growth failure, and dysmorphic features. Arch Dis Child 1991;66:193\u20136.","DOI":"10.1136\/adc.66.2.193"},{"key":"2021021322190160993_j_jpem-2017-0317_ref_004_w2aab3b7b6b1b6b1ab2b2b4Aa","doi-asserted-by":"crossref","unstructured":"Parvari R, Hershkovitz E, Kanis A, Gorodischer R, Shalitin S, et al. Homozygosity and linkage-disequilibrium mapping of the syndrome of congenital hypoparathyroidism, growth and mental retardation, and dysmorphism to a 1-cM interval on chromosome 1q42-43. Am J Hum Genet 1998;63:163\u20139.","DOI":"10.1086\/301915"},{"key":"2021021322190160993_j_jpem-2017-0317_ref_005_w2aab3b7b6b1b6b1ab2b2b5Aa","doi-asserted-by":"crossref","unstructured":"Parvari R, Hershkovitz E, Grossman N, Gorodischer R, Loeys B, et al. Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome. Nat Genet 2002;32:448\u201352.","DOI":"10.1038\/ng1012"},{"key":"2021021322190160993_j_jpem-2017-0317_ref_006_w2aab3b7b6b1b6b1ab2b2b6Aa","doi-asserted-by":"crossref","unstructured":"Albaramki J, Akl K, Al-Muhtaseb A, Al-Shboul M, Mahmoud T, et al. Sanjad Sakati syndrome: a case series from Jordan. East Mediterr Health J 2012;18:527\u201331.","DOI":"10.26719\/2012.18.5.527"},{"key":"2021021322190160993_j_jpem-2017-0317_ref_007_w2aab3b7b6b1b6b1ab2b2b7Aa","doi-asserted-by":"crossref","unstructured":"Naguib K, Gouda S, Elshafey A, Mohammed F, Bastaki L, et al. Sanjad\u2013Sakati syndrome\/Kenny\u2013Caffey syndrome type 1: a study of 21 cases in Kuwait. East Mediterr Health J 2009;15:345\u201352.","DOI":"10.26719\/2009.15.2.345"},{"key":"2021021322190160993_j_jpem-2017-0317_ref_008_w2aab3b7b6b1b6b1ab2b2b8Aa","doi-asserted-by":"crossref","unstructured":"Caffey J. Congenital stenosis of medullary spaces in tubular bones and calvaria in two proportionate dwarfs-Mother and son; coupled with transitory hypocalcemic tetany. Am J Roentgenol Radium Ther Nucl Med 1967;100:1\u201311.","DOI":"10.2214\/ajr.100.1.1"},{"key":"2021021322190160993_j_jpem-2017-0317_ref_009_w2aab3b7b6b1b6b1ab2b2b9Aa","doi-asserted-by":"crossref","unstructured":"Storms L, Chicella M, Dice J. Sevelamer therapy for pediatric end-stage renal disease. Pharmacotherapy 2006;26:410\u20133.","DOI":"10.1592\/phco.26.3.410"},{"key":"2021021322190160993_j_jpem-2017-0317_ref_010_w2aab3b7b6b1b6b1ab2b2c10Aa","doi-asserted-by":"crossref","unstructured":"Kahlon DK, Dinand V, Yadav SP, Sachdeva A. Sevelamer is an effective drug in treating hyperphosphatemia due to tumor lysis syndrome in children: a developing world experience. Indian J Hematol Blood Transfus 2014;32:78\u201382.","DOI":"10.1007\/s12288-014-0481-2"}],"container-title":["Journal of Pediatric Endocrinology and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.degruyter.com\/view\/j\/jpem.2018.31.issue-5\/jpem-2017-0317\/jpem-2017-0317.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2017-0317\/xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2017-0317\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,4,22]],"date-time":"2021-04-22T01:43:09Z","timestamp":1619055789000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2017-0317\/html"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,3,1]]},"references-count":10,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2018,3,1]]},"published-print":{"date-parts":[[2018,5,24]]}},"alternative-id":["10.1515\/jpem-2017-0317"],"URL":"https:\/\/doi.org\/10.1515\/jpem-2017-0317","relation":{},"ISSN":["2191-0251","0334-018X"],"issn-type":[{"value":"2191-0251","type":"electronic"},{"value":"0334-018X","type":"print"}],"subject":[],"published":{"date-parts":[[2018,3,1]]}}}