{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,19]],"date-time":"2025-10-19T20:47:51Z","timestamp":1760906871195},"reference-count":16,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,3,25]],"date-time":"2005-03-25T00:00:00Z","timestamp":1111708800000},"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":[[2005,5,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The acrofacial dysostoses (AFD) are a clinically and causally heterogeneous group of conditions characterized by mandibulofacial dysostosis and a variety of limb anomalies. Several abnormalities affecting different internal organs and the central nervous system (CNS) have been described. Depending on the type of limb defects, two major groups have been delineated: (1) with predominantly pre\u2010axial anomalies, Nager type AFD, and (2) with predominantly post\u2010axial involvement, Gen\u00e9e\u2013Wiedemann form of AFD, also known as POADS, respectively. Other forms of \u201ctrue AFD\u201d have been described as Kelly, Reynolds, Arens (also Tel Aviv form), Rodr\u00edguez (or Madrid form), Richieri\u2013Costa, and Patterson\u2013Stevenson\u2013Fontaine types. However, whether they are distinct entities or represent variants of the same condition remains unclear. Rod\u00edrguez AFD was described as a new lethal form of AFD in three affected sibs with severe mandibular hypoplasia, severe predominantly pre\u2010axial limb deficiencies, absent fibulae and ribs, and internal organ anomalies, the most remarkable of which are arrhinencephaly and abnormal lung lobulation. We present a newborn girl with Rodr\u00edguez type of AFD, who died a few days after the birth due to respiratory failure. The phenotype and the cause of this condition are discussed. \u00a9 2005 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.30673","type":"journal-article","created":{"date-parts":[[2005,3,25]],"date-time":"2005-03-25T20:46:27Z","timestamp":1111783587000},"page":"81-85","source":"Crossref","is-referenced-by-count":15,"title":["Acrofacial dysostosis type Rodr\u00edguez"],"prefix":"10.1002","volume":"135A","author":[{"given":"Boyan","family":"Dimitrov","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Irina","family":"Balikova","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nely","family":"Jekova","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lilija","family":"Vakrilova","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jean\u2010Pierre","family":"Fryns","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emil","family":"Simeonov","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,3,25]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-200201000-00013"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320420622"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990129)82:3<282::AID-AJMG16>3.0.CO;2-7"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320390222"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320300307"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320420335"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320270426"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980630)78:2<195::AID-AJMG21>3.0.CO;2-H"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990129)82:3<283::AID-AJMG17>3.0.CO;2-1"},{"key":"e_1_2_4_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320270425"},{"key":"e_1_2_4_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320470517"},{"key":"e_1_2_4_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320420318"},{"key":"e_1_2_4_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320350408"},{"key":"e_1_2_4_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320420336"},{"key":"e_1_2_4_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320420621"},{"key":"e_1_2_4_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10729"}],"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.30673","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.30673","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,10]],"date-time":"2023-10-10T15:16:49Z","timestamp":1696951009000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.30673"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,3,25]]},"references-count":16,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2005,5,15]]}},"alternative-id":["10.1002\/ajmg.a.30673"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.30673","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005,3,25]]}}}