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It has complete penetrance and wide expressivity for a radial ray defect which may vary from an almost normal thumb to a severely malformed upper limb. When present, the thumb has a long\/slender metacarpal and a short distal phalanx, reflected in a typical metacarpophalangeal (MP) pattern profile. Anthropometry reveals delayed growth in the forearms, clavicles, and cranium during adolescence, and permanently in the spine; the maturation of the face, tibiae, and feet is normal. The radial carpal bones are always affected, some being still hypoplastic at advanced ages. Constant palmar dermatoglyphic anomalies are a high <jats:italic>a<\/jats:italic>\u2010<jats:italic>b<\/jats:italic> ridge count, a distally placed or absent <jats:italic>t<\/jats:italic> triradius, and an increased frequency of patterns in the second interdigital area. Extraocular muscles are involved almost always, producing strabismus. Hearing is bilaterally impaired due to a mixed congenital loss, either total or partial. Mild thrombocytopenia and leukocytosis are present before the age of 50 years. There is neither associated ectodermal dysplasia nor heart involvement [except for occasional mild, incomplete right bundle branch block (IRBBB)]; imperforate anus occurs in about 10% of affected persons. The possible pathogenetic relationship to the thalidomide embryopathy and to the Holt\u2010Oram syndrome, among others, is discussed.<\/jats:p>","DOI":"10.1002\/ajmg.1320060105","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T00:43:59Z","timestamp":1118537039000},"page":"25-59","source":"Crossref","is-referenced-by-count":63,"title":["The IVIC syndrome: A new autosomal dominant complex pleiotropic syndrome with radial ray hypoplasia, hearing impairment, external ophthalmoplegia, and thrombocytopenia"],"prefix":"10.1002","volume":"6","author":[{"given":"Sergio","family":"Arias","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V\u00edctor B.","family":"Penchaszadeh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juan","family":"Pinto\u2010Cisternas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sorne","family":"Larrauri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John M.","family":"Opitz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John M.","family":"Opitz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,2]]},"reference":[{"key":"e_1_2_1_2_2","first-page":"3","volume-title":"Human Biology","author":"Tanner JM","year":"1969"},{"key":"e_1_2_1_3_2","first-page":"234","volume-title":"Clinical neuro\u2010ophthalmological examination","author":"Kestenbaum A","year":"1961"},{"key":"e_1_2_1_4_2","doi-asserted-by":"publisher","DOI":"10.1148\/104.1.1"},{"key":"e_1_2_1_5_2","doi-asserted-by":"publisher","DOI":"10.1148\/105.2.375"},{"key":"e_1_2_1_6_2","unstructured":"AriasS Rodr\u00edguezA SegoviaJ ZimmerE:Longitud de metacarpianos y falanges para la poblaci\u00f3n del \u00e1rea metropolitana de Caracas de ambos sexos adulta y de 2 a 18 a\u00f1os. 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