{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,30]],"date-time":"2026-01-30T07:24:13Z","timestamp":1769757853606,"version":"3.49.0"},"reference-count":16,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,6,9]],"date-time":"2005-06-09T00:00:00Z","timestamp":1118275200000},"content-version":"vor","delay-in-days":6553,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1987,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We are reporting on a 4\u2010generation family in which 6 individuals had frontonasal dysplasia with variable extracranial abnormalities. All affected persons had hypertelorism, bifid or broad nose, and highly arched palate. Associated abnormalities included cleft lip and palate (1\/6), webbed neck (2\/6), Sprengel anomaly (2\/6), pseudoarthrosis of the clavicle (2\/6), pectus excavatum (3\/6), narrow, sloping shoulders (3\/6), diaphragmatic hernia (2\/6), broad first toe (4\/6), brachydactyly (3\/6), fifth finger clinodactyly (5\/6), longitudinal grooves of nails (5\/6), shawl scrotum (2\/3 males), first degree hypospadias (1\/3), and mild mental retardation (1\/6). Only one affected female had brachycephaly and right coronal synostosis. Four other affected relatives had varying degrees of facial asymmetry, but normal skull contour. No male to male transmission is observed, and both daughters of an affected male were affected. Based on the phenotype of the 3 affected females, craniofrontonasal syndrome (CFNS) is the likely diagnosis. However, there are 3 affected males in this kindred, and 2 of the 3 had significant anomalies. Affected males also had genital abnormalities and pectus deformity of the chest, not previously reported in this condition. Two of the 3 males have posterolateral diaphragmatic hernia. This family expands the phenotype of affected males.<\/jats:p>","DOI":"10.1002\/ajmg.1320270315","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T02:57:20Z","timestamp":1118545040000},"page":"623-631","source":"Crossref","is-referenced-by-count":40,"title":["Delineation of the male phenotype in craniofrontonasal syndrome"],"prefix":"10.1002","volume":"27","author":[{"given":"Colleen A.","family":"Morris","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Janice C.","family":"Palumbos","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John C.","family":"Carey","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John M.","family":"Opitz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James F.","family":"Reynolds","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,9]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"36","article-title":"Hypertelorism with facies bovinia","volume":"40","author":"Callister A","year":"1943","journal-title":"Rocky Mt Med J"},{"key":"e_1_2_1_3_1","series-title":"BD:OAS","first-page":"85","volume-title":"Penetrance and Variability in Malformation Syndromes","author":"Cohen MM","year":"1979"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9394(71)91615-1"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1982.tb01444.x"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/tera.1420150312"},{"key":"e_1_2_1_7_1","first-page":"150","article-title":"Median cleft face syndrome associated with orbital hypertelorism and polysyndactyly","volume":"54","author":"Ide CH","year":"1975","journal-title":"Eye Ear Nose Throat Mon"},{"key":"e_1_2_1_8_1","first-page":"374","article-title":"Metabolic interference and the +\/\u2010 heterozygote","volume":"32","author":"Johnson WJ","year":"1980","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.4.24.381"},{"key":"e_1_2_1_10_1","series-title":"BD:OAS","first-page":"3","volume-title":"Natural History of Specific Birth Defects","author":"Pruzansky S","year":"1977"},{"key":"e_1_2_1_11_1","series-title":"BD:OAS","first-page":"121","volume-title":"Craniofacial Anomalies: New Perspectives","author":"Pruzansky S","year":"1982"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.1931.02720490009001"},{"key":"e_1_2_1_13_1","first-page":"233","article-title":"Craniofrontonasal dysplasia in a 3 generation kindred","volume":"2","author":"Reynolds JF","year":"1982","journal-title":"J Craniofac Genet Dev Biol"},{"issue":"4","key":"e_1_2_1_14_1","first-page":"735","article-title":"Craniofrontonasal dysplasia: A semi\u2010lethal allele with similarities to the mouse T\u2010locus","volume":"36","author":"Sax CM","year":"1984","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_15_1","series-title":"BD:OAS","first-page":"75","volume-title":"Penetrance and Variability in Malformation Syndromes","author":"Slover R","year":"1979"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1097\/00006534-195007000-00001"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1984.tb02020.x"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320270315","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320270315","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,21]],"date-time":"2023-10-21T13:32:33Z","timestamp":1697895153000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320270315"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1987,7]]},"references-count":16,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1987,7]]}},"alternative-id":["10.1002\/ajmg.1320270315"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320270315","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1987,7]]}}}