{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T21:10:07Z","timestamp":1760735407573,"version":"build-2065373602"},"reference-count":17,"publisher":"BMJ","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1980,12]]},"abstract":"<jats:p>A patient with a partial deletion (q23 leads to qter) of the long arm of chromosome 11 presented with craniosynostosis and syndactyly. These characteristics, which have not been previously reported with 11q--, expand the phenotype of this syndrome and emphasise the need for chromosome analysis with banding techniques in multiple congenital anomaly syndromes, even if the patient could be classified as having a non-chromosomal syndrome.<\/jats:p>","DOI":"10.1136\/jmg.17.6.480","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:52:06Z","timestamp":1226328726000},"page":"480-483","source":"Crossref","is-referenced-by-count":10,"title":["Craniosynostosis and syndactyly: expanding the 11q-- chromosomal deletion phenotype."],"prefix":"10.1136","volume":"17","author":[{"given":"B M","family":"Lippe","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R S","family":"Sparkes","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B","family":"Fass","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L","family":"Neidengard","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1980,12,1]]},"reference":[{"key":"ref_1","first-page":"389","article-title":"Congenital aniridia","volume":"12","author":"Shaw, M.W.; Falls, H.F.; Beel, J.V.","year":"1960","unstructured":"Shaw MW, Falls HF, Beel JV. 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Am J Hiumii Genet 1955;7:28-38.","journal-title":"Am J Hiumii Genet"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"718","DOI":"10.1016\/0002-9394(77)90139-8","article-title":"Familial aniridia with preserved ocular function","volume":"83","author":"Elsas, F.J.; Maumenee, I.H.; Kenyon, R.K.; Yoder, F.","year":"1977","unstructured":"Elsas FJ, Maumenee IH, Kenyon RK, Yoder F. Familial aniridia with preserved ocular function. Am J Ophthalmnol 1977;83:718-24.","journal-title":"Am J Ophthalmnol"},{"key":"ref_6","first-page":"60","article-title":"Developmental abnormlalities of the eve","author":"1, Mann","year":"1957","unstructured":"Mann 1. Developmental abnormlalities of the eve. 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Since neither of these two predominant features has been previously reported in association with this chromosomal anomaly, this case significantly expands the clinical spectrum of this 'syndrome'"},{"article-title":"Supported in part by grants HD-05615 and HD-04612 from the National Institute of Child Health and Human Development Received for publication","year":"1980","key":"ref_10","unstructured":"*Supported in part by grants HD-05615 and HD-04612 from the National Institute of Child Health and Human Development Received for publication 25 February 1980"},{"key":"ref_11","first-page":"568","article-title":"1; 21) translocation in four generations with chromosome 11 abnormalities in the offspring","volume":"23","author":"Jacobsen, P.; Hauge, M.; Henningsen, K.; Hobolt, N.; Mikkelsen, M.; Phillip, J.","year":"1973","unstructured":"Jacobsen P, Hauge M, Henningsen K, Hobolt N, Mikkelsen M, Phillip J. 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