{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T07:24:20Z","timestamp":1791962660466,"version":"4.3.4"},"reference-count":47,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":4706,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1992,7,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Chondrodysplasia punctata (CDP) is a heterogeneous group of rare bone dysplasias characterized by punctate calcification of cartilage. The punctate calcifications are nonspecific and have been seen in a wide variety of disorders including the Zellweger syndrome, warfarin, dilantin, alcohol and rubella embryopathies, vitamin\u2010K\u2010epoxide\u2010reductase deficiency, chromosome trisomies 18 and 21, the Smith\u2010Lemli\u2010Opitz syndrome, prenatal infectious chondritis, hypothyroidism, and other rare disorders. We report on a boy with short stature, developmental delay, nasal hypoplasia, telebrachydactyly, hypoplastic genitalia, CDP, ichthyosis, hypoplastic genitalia, and a 46\u2010X, +der(X),t(X;Y)(p22.31;q11.21), Y karyotype. Genomic DNA probe analysis was interpreted as showing that the translocation breakpoint was within the X\u2010linked Kallmann syndrome gene. We review a current classification of these disorders that includes 3 well\u2010defined single gene disorders. These include an autosomal recessive rhizomelic type with early lethality, an X\u2010linked dominant type with presumed male lethality, and an X\u2010linked recessive type that has only been described as part of a contiguous gene deletion syndrome. \u00a9 1992 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320430514","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T04:49:25Z","timestamp":1118551765000},"page":"823-828","source":"Crossref","is-referenced-by-count":36,"title":["Chondrodysplasia punctata: A boy with X\u2010linked recessive chondrodysplasia punctata due to an inherited X\u2010Y translocation with a current classification of these disorders"],"prefix":"10.1002","volume":"43","author":[{"given":"Eric 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