Ann Dermatol.  2018 Oct;30(5):629-630. 10.5021/ad.2018.30.5.629.

Conradi-Hünermann-Happle Syndrome Misdiagnosed as Rud's Syndrome in Korea

• Lee H
• Happle R

• KMID: 2419762
• DOI: http://doi.org/10.5021/ad.2018.30.5.629

Abstract

No abstract available.

MeSH Terms

Chondrodysplasia Punctata*
Korea*

Reference

1. Herr H, Koh JK, Kim CH, Kim JU, Chung HS. Rud's syndrome. Ann Dermatol. 2000; 12:206–210.

2. Happle R. Rud syndrome does not exist. Eur J Dermatol. 2012; 22:7.

3. Happle R. X-linked dominant chondrodysplasia punctata. Review of literature and report of a case. Hum Genet. 1979; 53:65–73.

4. Orphanet. X-linked dominant chondrodysplasia punctata 2016 [Internet]. Paris: Orphanet;cited 2016 Mar 3. Available from: http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=35173.

5. Lambrecht C, Wouters C, Van Esch H, Moens P, Casteels I, Morren MA. Conradi-Hünermann-Happle syndrome: a novel heterozygous missense mutation, c.204G>T (p.W68C). Pediatr Dermatol. 2014; 31:493–496.