{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T20:53:05Z","timestamp":1789764785287,"version":"4.0.1"},"reference-count":30,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,6,2]],"date-time":"2005-06-02T00:00:00Z","timestamp":1117670400000},"content-version":"vor","delay-in-days":6423,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1987,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Craniofrontonasal dysplasia, a distinct malformation syndrome, is characterized by varying degrees of frontonasal dysplasia, craniosynostosis, and variable extracranial abnormalities\u2014in particular, brittle nails with prominent longitudinal grooves or Splitting. There is marked female preponderance and variable expressivity not only between males and females but also between females. However, mode of inheritance is still unclear. We describe a large Arab kindred with 16 individuals (9 males, 7 females) in 4 generations having an apparently new autosomal dominant syndrome with features of Craniofrontonasal dysplasia but with normal or slightly broad nasal tip and without evidence of craniosynostosis or nail abnormalities. These cases were segregating in 5 sibships and include male to male transmission with full expression in males and females. Chromosomes of the proposita and her father were normal. Aarskog syndrome has been also considered in the differential diagnosis and was excluded.<\/jats:p>","DOI":"10.1002\/ajmg.1320280306","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T00:49:50Z","timestamp":1118537390000},"page":"581-591","source":"Crossref","is-referenced-by-count":41,"title":["New autosomal dominant syndrome resembling craniofrontonasal dysplasia"],"prefix":"10.1002","volume":"28","author":[{"given":"Ahmad S.","family":"Teebi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James F.","family":"Reynolds","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,2]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(70)80247-5"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1985.tb00236.x"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320170307"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(75)80219-8"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.55.9.706"},{"key":"e_1_2_1_7_1","first-page":"85","volume-title":"Penetrance and Variability in Malformation Syndromes","author":"Cohen MM","year":"1979"},{"key":"e_1_2_1_8_1","volume-title":"Orofacial Structures","author":"Cohen MM","year":"1971"},{"issue":"7","key":"e_1_2_1_8_2","first-page":"117","author":"National Foundation\u2010March of Dimes","journal-title":"BD:OAS"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1097\/00006534-197605000-00001"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(72)80242-7"},{"key":"e_1_2_1_11_1","first-page":"319","volume-title":"Syndromes of the Head and Neck","author":"Gorlin RJ","year":"1976"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320150105"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/tera.1420150312"},{"key":"e_1_2_1_14_1","first-page":"374","article-title":"Metabolie interference and the + \/\u2010 heterozygote. 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