{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2022,4,3]],"date-time":"2022-04-03T09:21:52Z","timestamp":1648977712456},"reference-count":10,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2010,10,29]],"date-time":"2010-10-29T00:00:00Z","timestamp":1288310400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Med Case Reports"],"published-print":{"date-parts":[[2010,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n          <jats:sec>\n            <jats:title>Introduction<\/jats:title>\n            <jats:p>The combination of a pituitary prolactinoma and an aldosterone-producing adrenal adenoma is extremely rare. To the best of our knowledge, double endocrine tumors in association with heart-hand syndrome have not previously been reported.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Case presentation<\/jats:title>\n            <jats:p>A 21-year-old Japanese woman presented with galactorrhea and decreased visual acuity. A large pituitary adenoma with an increased level of serum prolactin was apparent by computed tomography. She additionally showed mild hypertension (136\/90 mmHg) accompanied by hypokalemia. The plasma aldosterone concentration was increased. Computed tomography showed a mass in the right adrenal gland. No other tumors were found despite extensive imaging studies. Physical and radiographic examinations showed skeletal malformations of the hands and feet, including hypoplasia of the first digit in all four limbs. An atrial septal defect was demonstrated by echocardiography. Similar digital and cardiac abnormalities were detected in our patient's father, and a clinical diagnosis of hereditary heart-hand syndrome was made.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusion<\/jats:title>\n            <jats:p>No established heart-hand syndrome was wholly compatible with the family's phenotype. Her father had no obvious endocrine tumors, implying that the parent of transmission determined variable phenotypic expression of the disease: heart-hand syndrome with multiple endocrine tumors from the paternal transmission or no endocrine tumor from the maternal transmission. This suggests that the gene or genes responsible for the disease may be under tissue-specific imprinting control.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1186\/1752-1947-4-347","type":"journal-article","created":{"date-parts":[[2010,10,29]],"date-time":"2010-10-29T18:14:26Z","timestamp":1288376066000},"update-policy":"http:\/\/dx.doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["A possible new syndrome with double endocrine tumors in association with an unprecedented type of familial heart-hand syndrome: a case report"],"prefix":"10.1186","volume":"4","author":[{"given":"Masashi","family":"Demura","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takashi","family":"Yoneda","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shigehiro","family":"Karashima","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Toshinori","family":"Higashikata","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroshi","family":"Mabuchi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mitsuhiro","family":"Kawano","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masakazu","family":"Yamagishi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoshiyu","family":"Takeda","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2010,10,29]]},"reference":[{"issue":"8","key":"1304_CR1","doi-asserted-by":"publisher","first-page":"2617","DOI":"10.1210\/jc.83.8.2617","volume":"83","author":"RV Thakker","year":"1998","unstructured":"Thakker RV: Multiple endocrine neoplasia-syndromes of the twentieth century. J Clin Endocrinol Metab. 1998, 83 (8): 2617-2620. 10.1210\/jc.83.8.2617.","journal-title":"J Clin Endocrinol Metab"},{"issue":"5","key":"1304_CR2","doi-asserted-by":"publisher","first-page":"1326","DOI":"10.1161\/01.CIR.91.5.1326","volume":"91","author":"CT Basson","year":"1995","unstructured":"Basson CT, Solomon SD, Weissman B, MacRae CA, Poznanski AK, Prieto F, Ruiz de la Fuente S, Pease WE, Levin SE, Holmes LB, Seidman JG, Seidman CE: Genetic heterogeneity of heart-hand syndromes. Circulation. 1995, 91 (5): 1326-1329.","journal-title":"Circulation"},{"issue":"1","key":"1304_CR3","doi-asserted-by":"publisher","first-page":"21","DOI":"10.1038\/ng0197-21","volume":"15","author":"QY Li","year":"1997","unstructured":"Li QY, Newbury-Ecob RA, Terrett JA, Wilson DI, Curtis AR, Yi CH, Gebuhr T, Bullen PJ, Robson SC, Strachan T, Bonnet D, Lyonnet S, Young ID, Raeburn JA, Buckler AJ, Law DJ, Brook JD: Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family. Nat Genet. 1997, 15 (1): 21-29. 10.1038\/ng0197-21.","journal-title":"Nat Genet"},{"issue":"3","key":"1304_CR4","first-page":"1","volume":"14","author":"SA Temtamy","year":"1978","unstructured":"Temtamy SA, McKusick VA: The genetics of hand malformations. Birth Defects Orig Artic Ser. 1978, 14 (3): 1-619.","journal-title":"Birth Defects Orig Artic Ser"},{"issue":"2","key":"1304_CR5","doi-asserted-by":"publisher","first-page":"105","DOI":"10.1111\/j.1399-0004.1990.tb03556.x","volume":"38","author":"MC Silengo","year":"1990","unstructured":"Silengo MC, Biagioli M, Guala A, Lopez-Bell G, Lala R: Heart-hand syndrome II. A report of Tabatznik syndrome with new findings. Clin Genet. 1990, 38 (2): 105-113. 10.1111\/j.1399-0004.1990.tb03556.x.","journal-title":"Clin Genet"},{"issue":"1","key":"1304_CR6","doi-asserted-by":"publisher","first-page":"43","DOI":"10.1007\/BF00329125","volume":"55","author":"S Ruiz de la Fuente","year":"1980","unstructured":"Ruiz de la Fuente S, Prieto F: Heart-hand syndrome. III. A new syndrome in three generations. Hum Genet. 1980, 55 (1): 43-47. 10.1007\/BF00329125.","journal-title":"Hum Genet"},{"issue":"2","key":"1304_CR7","doi-asserted-by":"publisher","first-page":"155","DOI":"10.1111\/j.1399-0004.2005.00476.x","volume":"68","author":"M Sinkovec","year":"2005","unstructured":"Sinkovec M, Petrovic D, Volk M, Peterlin B: Familial progressive sinoatrial and atrioventricular conduction disease of adult onset with sudden death, dilated cardiomyopathy, and brachydactyly. A new type of heart-hand syndrome?. Clin Genet. 2005, 68 (2): 155-160. 10.1111\/j.1399-0004.2005.00476.x.","journal-title":"Clin Genet"},{"issue":"3","key":"1304_CR8","doi-asserted-by":"publisher","first-page":"219","DOI":"10.1111\/j.1747-0803.2008.00147.x","volume":"3","author":"J Nemec","year":"2008","unstructured":"Nemec J, Heifetz S: Persistence of left supracardinal vein in an adult patient with heart-hand syndrome and cardiac pacemaker. Congenit Heart Dis. 2008, 3 (3): 219-222. 10.1111\/j.1747-0803.2008.00147.x.","journal-title":"Congenit Heart Dis"},{"issue":"2","key":"1304_CR9","doi-asserted-by":"publisher","first-page":"169","DOI":"10.1507\/endocrj1954.39.169","volume":"39","author":"R Demura","year":"1992","unstructured":"Demura R, Naruse M, Isawa M, Onoda N, Naruse K, Yamakado M, Demura H: A patient with a prolactinoma associated with an aldosterone producing adrenal adenoma: differences in dopaminergic regulation of PRL and aldosterone secretion. Endocrinol Jpn. 1992, 39 (2): 169-176.","journal-title":"Endocrinol Jpn"},{"issue":"6730","key":"1304_CR10","doi-asserted-by":"publisher","first-page":"810","DOI":"10.1038\/19762","volume":"398","author":"JK Takeuchi","year":"1999","unstructured":"Takeuchi JK, Koshiba-Takeuchi K, Matsumoto K, Vogel-Hopker A, Naitoh-Matsuo M, Ogura K, Takahashi N, Yasuda K, Ogura T: Tbx5 and Tbx4 genes determine the wing\/leg identity of limb buds. Nature. 1999, 398 (6730): 810-814. 10.1038\/19762.","journal-title":"Nature"}],"container-title":["Journal of Medical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/1752-1947-4-347.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1186\/1752-1947-4-347\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/1752-1947-4-347","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/1752-1947-4-347.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,9,1]],"date-time":"2021-09-01T12:27:40Z","timestamp":1630499260000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmedicalcasereports.biomedcentral.com\/articles\/10.1186\/1752-1947-4-347"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,10,29]]},"references-count":10,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2010,12]]}},"alternative-id":["1304"],"URL":"https:\/\/doi.org\/10.1186\/1752-1947-4-347","relation":{},"ISSN":["1752-1947"],"issn-type":[{"value":"1752-1947","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,10,29]]},"assertion":[{"value":"4 November 2009","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"29 October 2010","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"29 October 2010","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}}],"article-number":"347"}}