{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T05:50:18Z","timestamp":1790833818462,"version":"4.1.0"},"reference-count":8,"publisher":"BMJ","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1990,3]]},"abstract":"<jats:p>A patient is described with a new association of microphthalmia, single central incisor, and hypopituitarism believed to represent a holoprosencephaly malformation. In view of the genetic ramifications of this malformation and its variable manifestations, we would like to alert the clinician to consider holoprosencephaly whenever midline malformations are detected.<\/jats:p>","DOI":"10.1136\/jmg.27.3.192","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:11:11Z","timestamp":1226329871000},"page":"192-193","source":"Crossref","is-referenced-by-count":23,"title":["Microphthalmia with single central incisor and hypopituitarism."],"prefix":"10.1136","volume":"27","author":[{"given":"H G","family":"Artman","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E","family":"Boyden","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1990,3,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"934","DOI":"10.1210\/jcem-33-6-934","article-title":"Cleft lip and chorioideal coloboma associated with multiple hypothalamo-pituitary dysfunctions","volume":"33","year":"1971","unstructured":"Zuppinger KA, Sutter M, Zurbrugg RP, Joss EE, Oetliker 0. Cleft lip and chorioideal coloboma associated with multiple hypothalamo-pituitary dysfunctions. J Clin Endocrinol Metab 1971;33:934-9.","journal-title":"J Clin Endocrinol Metab"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"644","DOI":"10.1016\/S0022-3476(74)80507-X","article-title":"Autosomal dominant transmission of isolated growth hormone deficiency in iris-dental dysplasia (Rieger's syndrome)","volume":"85","author":"Sadeghi-Nejad, A.; Senior, B.","year":"1974","unstructured":"Sadeghi-Nejad A, Senior B. Autosomal dominant transmission of isolated growth hormone deficiency in iris-dental dysplasia (Rieger's syndrome). J Pediatr 1974;85:644-8.","journal-title":"J Pediatr"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"580","DOI":"10.1210\/jcem-59-4-580","article-title":"Growth hormone release in response to human pancreatic tumor growth hormonereleasing hormone-40 in children with short stature","volume":"59","author":"Rogol, A.D.; Blizzard, R.M.; Johanson, A.J.","year":"1984","unstructured":"Rogol AD, Blizzard RM, Johanson AJ, et al. Growth hormone release in response to human pancreatic tumor growth hormonereleasing hormone-40 in children with short stature. J Clin Endocrinol Metab 1984;59:580-6.","journal-title":"J Clin Endocrinol Metab"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"929","DOI":"10.1002\/ajmg.1320300409","article-title":"Holoprosencephaly: association with interstitial deletion of 2p and review of the cytogenetic literature","volume":"30","author":"Munke, M.; Emanuel, B.S.; Zackai, E.H.","year":"1988","unstructured":"Munke M, Emanuel BS, Zackai EH. Holoprosencephaly: association with interstitial deletion of 2p and review of the cytogenetic literature. Am J Med Genet 1988;30:929-38.","journal-title":"Am J Med Genet"},{"key":"ref_5","first-page":"226","article-title":"Ocular coloboma associated with a solitary maxillary central incisor and growth failure: manifestations of holoprosencephaly","volume":"19","author":"Liberfarb, R.M.; Abdo, O.P.; Pruett, R.C.","year":"1987","unstructured":"Liberfarb RM, Abdo OP, Pruett RC. Ocular coloboma associated with a solitary maxillary central incisor and growth failure: manifestations of holoprosencephaly. Ann Ophthalmol 1987;19: 226-7.","journal-title":"Ann Ophthalmol"},{"key":"ref_6","first-page":"546","article-title":"In: Smith's recognizable patterns ofhuman malformation","author":"Jones, K.L.","year":"1988","unstructured":"Jones KL. In: Smith's recognizable patterns ofhuman malformation. Philadelphia: Saunders, 1988:546-7."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"483","DOI":"10.1002\/ajmg.1320280226","article-title":"Single central maxillary incisor and holoprosencephaly","volume":"28","author":"Hattori, H.; Okuno, T.; Momoi, T.; Kataoka, K.; Mikawa, H.; Shiota, K.","year":"1987","unstructured":"Hattori H, Okuno T, Momoi T, Kataoka K, Mikawa H, Shiota K. Single central maxillary incisor and holoprosencephaly. Am J Med Genet 1987;28:483-7.","journal-title":"Am J Med Genet"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"877","DOI":"10.1016\/S0022-3476(84)80485-0","article-title":"Single central incisor in familial holoprosencephaly","volume":"104","author":"Berry, S.A.; Pierpont, M.E.; Gorlin, R.J.","year":"1984","unstructured":"Berry SA, Pierpont ME, Gorlin RJ. Single central incisor in familial holoprosencephaly. J Pediatr 1984;104:877-80.","journal-title":"J Pediatr"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.27.3.192","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T17:46:39Z","timestamp":1760723199000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.27.3.192"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1990,3]]},"references-count":8,"journal-issue":{"issue":"3","published-online":{"date-parts":[[1990,3,1]]},"published-print":{"date-parts":[[1990,3]]}},"alternative-id":["10.1136\/jmg.27.3.192"],"URL":"https:\/\/doi.org\/10.1136\/jmg.27.3.192","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1990,3]]}}}