{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T23:17:50Z","timestamp":1790205470010,"version":"4.1.0"},"reference-count":11,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"2","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2015,3]]},"abstract":"<jats:p>Goltz syndrome or Focal Dermal Hypoplasia is a rare multisystem disorder, involving all the three germ cell layers. The disease is thought to be inherited in X-linked dominant fashion with heterogeneous mutations of the PORCN gene at Xp11.23 locus. Majority of the cases are sporadic, mainly due to postzygotic somatic mutations. The clinical spectrum includes characteristic cutaneous manifestations, multiple skeletal anomalies, and involvement of the eyes, hair, nails, kidneys, and so on. Considerable variability is noted in the clinical expression of the disease probably due to genomic mosaicism. Around 300 cases of Goltz syndrome have been reported in the literature. Here, we report such a case with characteristic skin lesions, multiple bony defects, distinctive facial features, coloboma of iris, and bilateral hydronephrosis. The diagnosis was evident immediately after birth due to the characteristic clinical picture of the baby.<\/jats:p>","DOI":"10.4103\/0019-5154.152608","type":"journal-article","created":{"date-parts":[[2025,9,21]],"date-time":"2025-09-21T19:02:17Z","timestamp":1758481337000},"page":"215-215","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":2,"title":["Goltz Syndrome: A Newborn with Ectrodactyly and Skin Lesions"],"prefix":"10.4103","volume":"60","author":[{"given":"Shatanik","family":"Sarkar","sequence":"first","affiliation":[{"name":"From the Department of Pediatric Medicine, R. G. Kar Medical College and Hospital, 1, Khudiram Bose Sarani, Kolkata, West Bengal, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chaitali","family":"Patra","sequence":"additional","affiliation":[{"name":"From the Department of Pediatric Medicine, R. G. Kar Medical College and Hospital, 1, Khudiram Bose Sarani, Kolkata, West Bengal, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amit","family":"Das","sequence":"additional","affiliation":[{"name":"From the Department of Pediatric Medicine, R. G. Kar Medical College and Hospital, 1, Khudiram Bose Sarani, Kolkata, West Bengal, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sutirtha","family":"Roy","sequence":"additional","affiliation":[{"name":"From the Department of Pediatric Medicine, R. G. Kar Medical College and Hospital, 1, Khudiram Bose Sarani, Kolkata, West Bengal, India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"R1-20250921","doi-asserted-by":"crossref","first-page":"708","DOI":"10.1001\/archderm.1962.01590120006002","article-title":"Focal dermal hypoplasia","volume":"86","author":"Goltz","year":"1962","journal-title":"Arch Dermatol"},{"key":"R2-20250921","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/BF00289472","article-title":"X-linked dominant diseases with lethality in hemizygous males","volume":"64","author":"Wettke","year":"1983","journal-title":"Hum Genet"},{"key":"R3-20250921","doi-asserted-by":"crossref","first-page":"180","DOI":"10.1136\/jmg.27.3.180","article-title":"Focal dermal hypoplasia (Goltz syndrome)","volume":"27","author":"Temple","year":"1990","journal-title":"J Med Genet"},{"key":"R4-20250921","doi-asserted-by":"crossref","first-page":"836","DOI":"10.1038\/ng2057","article-title":"Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia","volume":"39","author":"Wang","year":"2007","journal-title":"Nat Genet"},{"key":"R5-20250921","doi-asserted-by":"crossref","first-page":"820","DOI":"10.1038\/ng0707-820","article-title":"Wnt signaling in focal dermal hypoplasia","volume":"39","author":"Paller","year":"2007","journal-title":"Nat Genet"},{"key":"R6-20250921","doi-asserted-by":"crossref","first-page":"373","DOI":"10.1111\/j.1399-0004.2008.00975.x","article-title":"Three novel mutation in the PORCN gene underlying focal dermal hypoplasia","volume":"73","author":"Leoyklang","year":"2008","journal-title":"Clin Genet"},{"key":"R7-20250921","doi-asserted-by":"crossref","first-page":"1078","DOI":"10.1001\/archderm.1992.01680180072008","article-title":"Focal dermal hypoplasia syndrome in a male: Case report, histologic and immunohistochemical studies","volume":"128","author":"Buchner","year":"1992","journal-title":"Arch Dermatol"},{"key":"R8-20250921","doi-asserted-by":"crossref","first-page":"2","DOI":"10.5070\/D373V5D63S","article-title":"A rare multisystem disorder: Goltz syndrome-case report and brief overview","volume":"16","author":"Jain","year":"2010","journal-title":"Dermatol Online J"},{"key":"R9-20250921","doi-asserted-by":"crossref","first-page":"1108","DOI":"10.1001\/archderm.1992.01680180102015","article-title":"Focal dermal hypoplasia syndrome: An update","volume":"128","author":"Goltz","year":"1992","journal-title":"Arch Dermatol"},{"key":"R10-20250921","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1001\/archderm.1970.04000010003001","article-title":"Focal dermal hypoplasia syndrome. A review of the literature and report of two cases","volume":"101","author":"Goltz","year":"1970","journal-title":"Arch Derm"},{"key":"R11-20250921","doi-asserted-by":"crossref","first-page":"443","DOI":"10.1016\/S0190-9622(83)70157-X","article-title":"Focal dermal hypoplasia syndrome","volume":"9","author":"Hall","year":"1983","journal-title":"J Am Acad Dermatol"}],"container-title":["Indian Journal of Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/00076423-201560020-00056","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T15:42:41Z","timestamp":1787067761000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/00076423-201560020-00056"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,3]]},"references-count":11,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2015]]}},"URL":"https:\/\/doi.org\/10.4103\/0019-5154.152608","relation":{},"ISSN":["0019-5154","1998-3611"],"issn-type":[{"value":"0019-5154","type":"print"},{"value":"1998-3611","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,3]]},"assertion":[{"value":"2013-07-01","name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2013-10-01","name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}}]}}