{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,19]],"date-time":"2025-10-19T20:48:05Z","timestamp":1760906885775},"reference-count":20,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":5328,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1990,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on a 46,XY infant with mandibulofacial dysostosis, preaxial and postaxial limb anomalies, urethral stenosis with left hydronephrosis, and ambiguous genitalia with phallic\/scrotal transposition. This infant with atypical pre\/postaxial acrofacial dysostosis (AFD) is the first to be reported with ambiguous genitalia. The acrofacial dysostoses are a heterogenous group of disorders characterized by varying degrees of mandibulofacial dysostosis with acral limb defects and may represent a polytopic field defect. These disorders have generally been separated on the basis of their limb anomalies into preaxial, postaxial, lethal, and atypical types. Most cases are sporadic, but various causes have been postulated including autosomal dominant and recessive inheritance, a chromosome 2q duplication, and a possible case of diabetic embryopathy. We review the nonfacial\/limb anomalies in other cases of AFD and compare them to those of our case, thereby expanding the spectrum of anomalies in these disorders.<\/jats:p>","DOI":"10.1002\/ajmg.1320370318","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T03:52:22Z","timestamp":1118548342000},"page":"384-387","source":"Crossref","is-referenced-by-count":4,"title":["Acrofacial dysostosis with ambiguous genitalia"],"prefix":"10.1002","volume":"37","author":[{"given":"Eric A.","family":"Wulfsberg","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jerri","family":"Curtis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas E.","family":"Wiswell","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert A.","family":"Puntel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sondra W.","family":"Levin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320140203"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320330321"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2230.1978.tb01482.x"},{"key":"e_1_2_1_5_1","first-page":"214","volume-title":"Smith's Recognizable Patterns of Human Malformation","author":"Jones KL","year":"1988"},{"key":"e_1_2_1_6_1","volume-title":"New Syndromes","author":"Kelly TE","year":"1977"},{"issue":"3","key":"e_1_2_1_6_2","first-page":"45","article-title":"National Foundation\u2010March of Dimes","journal-title":"BD:OAS"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320210419"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320330307"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(64)80188-8"},{"key":"e_1_2_1_10_1","first-page":"124","volume-title":"Essentials of Human Embryology","author":"Moore KL","year":"1988"},{"key":"e_1_2_1_11_1","first-page":"1","article-title":"Das Geh\u00f6rorgan bei den angeborenen Kopfmissbildungen","volume":"10","author":"Nager FR","year":"1948","journal-title":"Pract Otorhinolaryngol (Basel)"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320270425"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320270427"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320150208"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320330406"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320140204"},{"key":"e_1_2_1_17_1","first-page":"455","article-title":"Die Differentialdiagnose der radialen Defektbildungen","volume":"7","author":"Sch\u00f6nenberg H","year":"1968","journal-title":"P\u00e4diat Prax"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320270214"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/tera.1420370602"},{"key":"e_1_2_1_20_1","first-page":"116A","article-title":"Nager syndrome with partial duplication of the long arm of chromosome 2","volume":"31","author":"Wagner SF","year":"1979","journal-title":"Am J Hum Genet"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320370318","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320370318","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,22]],"date-time":"2023-10-22T16:14:11Z","timestamp":1697991251000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320370318"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1990,11]]},"references-count":20,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1990,11]]}},"alternative-id":["10.1002\/ajmg.1320370318"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320370318","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1990,11]]}}}