{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,15]],"date-time":"2026-07-15T18:36:06Z","timestamp":1784140566811,"version":"3.55.0"},"reference-count":40,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2004,6,14]],"date-time":"2004-06-14T00:00:00Z","timestamp":1087171200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2004,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Acromelic frontonasal dysostosis (AFND) represents a subgroup of patients with frontonasal malformation with limb abnormalities including preaxial polydactyly and tibial hypoplasia. Previous case reports have suggested autosomal recessive inheritance, given parental consanguinity. However, no affected siblings have been described. Longitudinal clinical history is limited as many do not survive the first years of life. The molecular basis of AFND is not known. Previous investigators have proposed that AFND may result from a perturbation in the Sonic Hedgehog pathway. We present clinical and radiographic findings in two unrelated boys, ages 8 and 9 years, with AFND, one of whom has a family history suggesting dominant inheritance. A focused study of genetic marker data and candidate gene mutation analysis in this family is presented. \u00a9 2004 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.30091","type":"journal-article","created":{"date-parts":[[2004,6,15]],"date-time":"2004-06-15T18:42:42Z","timestamp":1087324962000},"page":"374-382","source":"Crossref","is-referenced-by-count":12,"title":["Familial acromelic frontonasal dysostosis: Autosomal dominant inheritance with reduced penetrance"],"prefix":"10.1002","volume":"128A","author":[{"given":"Anne V.","family":"Hing","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nadia","family":"Syed","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael L.","family":"Cunningham","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2004,6,14]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/PL00022976","article-title":"A gene for autosomal dominant juvenile amyotrophic lateral sclerosis (ALS4) localizes to a 500\u2010kb interval on chromosome 9q34","volume":"3","author":"Blair IP","year":"2000","journal-title":"Neurogenetics"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0177(199801)211:1<88::AID-AJA8>3.0.CO;2-3"},{"key":"e_1_2_8_4_1","first-page":"268","article-title":"Ocular hypertelorism and nasal agenesis (midface syndrome) with limb anomalies","volume":"7","author":"Calli LJ","year":"1971","journal-title":"Birth Defects Orig Art Ser"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9394(71)91615-1"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320460623"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng577"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02026715"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0901-5027(96)80048-8"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0168-9525(96)10051-2"},{"key":"e_1_2_8_11_1","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1242\/dev.125.3.351","article-title":"Sonic hedgehog is not required for polarising activity in the Doublefoot mutant mouse limb bud","volume":"125","author":"Hayes C","year":"1998","journal-title":"Development"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1469-7580.1998.19310081.x"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.2001.6657"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1999.5796"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.126.21.4873"},{"key":"e_1_2_8_16_1","first-page":"37","article-title":"Median cleft face syndrome associated with orbital hypertelorism and polysyndactyly","volume":"54","author":"Ide C","year":"1975","journal-title":"Eye, Ear, Nose Throat Monthly"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/8.9.1769"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01957936"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320460204"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.31.5.410"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.9.13.1645"},{"key":"e_1_2_8_22_1","doi-asserted-by":"publisher","DOI":"10.1006\/dbio.1996.8457"},{"key":"e_1_2_8_23_1","doi-asserted-by":"publisher","DOI":"10.1038\/83703"},{"key":"e_1_2_8_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-9822(01)00229-9"},{"key":"e_1_2_8_25_1","doi-asserted-by":"publisher","DOI":"10.1038\/35010610"},{"key":"e_1_2_8_26_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19991126)87:3<251::AID-AJMG10>3.0.CO;2-G"},{"key":"e_1_2_8_27_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.124.20.3999"},{"key":"e_1_2_8_28_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.125.14.2711"},{"key":"e_1_2_8_29_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(93)90626-2"},{"key":"e_1_2_8_30_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960111)61:2<147::AID-AJMG8>3.0.CO;2-U"},{"key":"e_1_2_8_31_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(70)80374-2"},{"key":"e_1_2_8_32_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990312)83:2<109::AID-AJMG6>3.0.CO;2-8"},{"key":"e_1_2_8_33_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320460402"},{"key":"e_1_2_8_34_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320250613"},{"key":"e_1_2_8_35_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320590113"},{"key":"e_1_2_8_36_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004390050709"},{"key":"e_1_2_8_37_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320420209"},{"key":"e_1_2_8_38_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9297(07)62934-6"},{"key":"e_1_2_8_39_1","doi-asserted-by":"publisher","DOI":"10.1002\/tera.1420080307"},{"key":"e_1_2_8_40_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.37.12.916"},{"key":"e_1_2_8_41_1","doi-asserted-by":"crossref","first-page":"3123","DOI":"10.1242\/dev.125.16.3123","article-title":"Evidence that preaxial polydactyly in the Doublefoot mutant is due to ectopic Indian hedgehog signaling","volume":"125","author":"Yang Y","year":"1998","journal-title":"Development"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.30091","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.30091","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,16]],"date-time":"2023-11-16T18:05:36Z","timestamp":1700157936000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.30091"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,6,14]]},"references-count":40,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2004,8]]}},"alternative-id":["10.1002\/ajmg.a.30091"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.30091","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2004,6,14]]}}}