{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,1]],"date-time":"2026-08-01T02:41:11Z","timestamp":1785552071360,"version":"3.56.0"},"reference-count":22,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2014,1,5]],"date-time":"2014-01-05T00:00:00Z","timestamp":1388880000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatric Dermatology"],"published-print":{"date-parts":[[2014,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Focal dermal hypoplasia (Goltz syndrome, Online Mendelian Inheritance in Man [OMIM] 305600) is a rare X\u2010linked dominant congenital disorder involving defects of mesodermal\u2010 and ectodermal\u2010derived structures. It is associated with mutations in the <jats:italic>PORCN<\/jats:italic> gene, a regulator of Wnt signaling proteins. The phenotype is highly variable, although all describe characteristic skin findings as a primary diagnostic feature. To date there are few case reports of focal dermal hypoplasia associated with central nervous system abnormalities. We report the second case of focal dermal hypoplasia associated with myelomenigocele, Arnold\u2013Chiari malformation and hydrocephalus and the first in a male. Genetic testing identified a novel mosaic three base pair deletion within the <jats:italic>PORCN<\/jats:italic> gene (c.853_855delACG). This case highlights the importance of neurological evaluation in focal dermal hypoplasia and consideration of other syndromes more commonly associated with central nervous system abnormalities. In this report we summarize the literature on neurological manifestations in Goltz syndrome.<\/jats:p>","DOI":"10.1111\/pde.12267","type":"journal-article","created":{"date-parts":[[2014,1,6]],"date-time":"2014-01-06T02:25:33Z","timestamp":1388975133000},"page":"220-224","source":"Crossref","is-referenced-by-count":15,"title":["Focal Dermal Hypoplasia: Report of a Case with Myelomeningocele, Arnold\u2013Chiari Malformation and Hydrocephalus with a Review of Neurologic Manifestations of Goltz Syndrome"],"prefix":"10.1111","volume":"31","author":[{"given":"Tess","family":"Peters","sequence":"first","affiliation":[{"name":"Division of Dermatology University of Calgary Calgary Alberta Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Renee","family":"Perrier","sequence":"additional","affiliation":[{"name":"Division of Clinical Genetics Alberta Children's Hospital Calgary Alberta Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard M.","family":"Haber","sequence":"additional","affiliation":[{"name":"Division of Dermatology University of Calgary Calgary Alberta Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,1,5]]},"reference":[{"key":"e_1_2_5_2_1","first-page":"48","article-title":"Falldemonstration Breslauer dermatologische Vereinigung","volume":"133","author":"Jessner M","year":"1921","journal-title":"Arch Dermatol Syph"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.1962.01590120006002"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng2052"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng2057"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.068403"},{"key":"e_1_2_5_7_1","unstructured":"LombardiMP HennekamRC.2013.LOVD \u2013 Leiden open variation database [online].https:\/\/grenada.lumc.nl\/LOVD2\/amc\/home.php?select_db=PORCN. 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