{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,26]],"date-time":"2025-10-26T21:03:21Z","timestamp":1761512601421,"version":"build-2065373602"},"reference-count":7,"publisher":"BMJ","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1990,1]]},"abstract":"<jats:p>A 9 year old boy with Poland's syndrome (absence of the left pectoralis major muscle associated with an ipsilateral malformation of the hand) and isolated growth hormone deficiency, owing to anatomical abnormalities of the pituitary gland, is described. MRI brain scan showed severe hypoplasia of both the sella and anterior lobe of the pituitary gland with absence of the pituitary stalk and ectopia of the posterior lobe. Association of Poland's syndrome and growth hormone deficiency has not been described previously.<\/jats:p>","DOI":"10.1136\/jmg.27.1.53","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:11:11Z","timestamp":1226329871000},"page":"53-55","source":"Crossref","is-referenced-by-count":11,"title":["Poland's syndrome associated with growth hormone deficiency."],"prefix":"10.1136","volume":"27","author":[{"given":"D","family":"Larizza","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Maghnie","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1990,1,1]]},"reference":[{"key":"ref_1","first-page":"224","article-title":"Recognizable patterns of humatn malfornationl. Genetic, embrvologic and clinical aspects","author":"Smith, D.W.","year":"1982","unstructured":"Smith DW. Recognizable patterns of humatn malfornationl. Genetic, embrvologic and clinical aspects. Philadelphia: Saunders, 1982: 224-5."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"390","DOI":"10.1136\/jmg.22.5.390","article-title":"Familial absence of the pectoralis major, serratus anterior, and latissimus dorsi muscles","volume":"22","author":"David, T.J.; Winter, R.M.","year":"1985","unstructured":"David TJ, Winter RM. Familial absence of the pectoralis major, serratus anterior, and latissimus dorsi muscles. Med Genet 1985;22:390-2.","journal-title":"Med Genet"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"192","DOI":"10.1136\/jmg.10.2.192","article-title":"Mobius svndrome with Poland's anomaly","volume":"10","author":"Sugarman, G.I.; Stark, H.H.","year":"1973","unstructured":"Sugarman GI, Stark HH. Mobius svndrome with Poland's anomaly. Med Genet 1973;10: 192-6.","journal-title":"Med Genet"},{"key":"ref_4","first-page":"364","article-title":"Poland syndrome associated with 'morning glory' syndrome (coloboma of the optic disc)","volume":"22","author":"Pisteljic, D.T.; Vranjesevic, D.; Apostolski, S.; Pisteljic, D.D.","year":"1985","unstructured":"Pisteljic DT, Vranjesevic D, Apostolski S, Pisteljic DD. Poland syndrome associated with 'morning glory' syndrome (coloboma of the optic disc). Med Genet 1985;22:364-6.","journal-title":"Med Genet"},{"key":"ref_5","first-page":"15","article-title":"Hereditary forms of growth hormone deficiency and resistance","volume":"XII:","author":"Rimoin, D.L.","year":"1976","unstructured":"Rimoin DL. Hereditary forms of growth hormone deficiency and resistance. Birth Defects 1976;XII: 15-29.","journal-title":"Birth Defects"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"861","DOI":"10.1002\/ajmg.1320230403","article-title":"Growth hormone deficiency in the Rothmund-Thomson svndrome","volume":"23","author":"Kaufmann, S.; Jones, M.; Culler, F.L.; Jones, K.L.","year":"1986","unstructured":"Kaufmann S, Jones M, Culler FL, Jones KL. Growth hormone deficiency in the Rothmund-Thomson svndrome. Am Med Genet 1986;23:861-8.","journal-title":"Am Med Genet"},{"issue":"112","key":"ref_7","first-page":"113","article-title":"Etiology and association of growth hormone deficiency","volume":"1986","author":"Jorge, H.J.; Martinez, A.S.; Bergada, C.","unstructured":"Jorge HJ, Martinez AS, Bergada C. Etiology and association of growth hormone deficiency. Acta Enidocnrnol (Copenh) 1986;112 (suppl 279):113--7.","journal-title":"Acta Enidocnrnol (Copenh)"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.27.1.53","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T17:48:13Z","timestamp":1760723293000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.27.1.53"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1990,1]]},"references-count":7,"journal-issue":{"issue":"1","published-online":{"date-parts":[[1990,1,1]]},"published-print":{"date-parts":[[1990,1]]}},"alternative-id":["10.1136\/jmg.27.1.53"],"URL":"https:\/\/doi.org\/10.1136\/jmg.27.1.53","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1990,1]]}}}