{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,7]],"date-time":"2023-10-07T07:11:18Z","timestamp":1696662678040},"reference-count":14,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2014,11,26]],"date-time":"2014-11-26T00:00:00Z","timestamp":1416960000000},"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":[[2015,2]]},"abstract":"<jats:sec><jats:label \/><jats:p>We report on an adult male with normal intelligence who exhibited an unusual combination of microcephaly, dysostoses of limbs, vertebrae, patellae, and pubic bone, camptodactyly of all fingers, and syndactyly of toes, absent nails on thumbs and some fingers, bilateral cataract, cryptorchidism, polythelia, and nipple\u2010like skin pigmentations of shoulders and upper back. We have been unable to find a description of a similar combination of manifestations in literature. The cause of the anomalies remains unknown. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36851","type":"journal-article","created":{"date-parts":[[2014,11,26]],"date-time":"2014-11-26T18:14:24Z","timestamp":1417025664000},"page":"282-286","source":"Crossref","is-referenced-by-count":3,"title":["Acro\u2010spondylo\u2010pubic dysostosis associated with cataracts, microcephaly, and normal intelligence"],"prefix":"10.1002","volume":"167","author":[{"given":"Oscar F.","family":"Chacon\u2010Camacho","sequence":"first","affiliation":[{"name":"Genetics Department\u2010Research Unit Institute of Ophthalmology \u201cConde de Valenciana\u201d Mexico City Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vanessa","family":"Villegas\u2010Ruiz","sequence":"additional","affiliation":[{"name":"Genetics Department\u2010Research Unit Institute of Ophthalmology \u201cConde de Valenciana\u201d Mexico City 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