{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,2]],"date-time":"2026-08-02T16:25:57Z","timestamp":1785687957910,"version":"3.56.0"},"reference-count":18,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2009,3,16]],"date-time":"2009-03-16T00:00:00Z","timestamp":1237161600000},"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":[[2009,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Focal facial dermal dysplasia (FFDD) (OMIM 227260) is a rare ectodermal disorder characterized by congenital bitemporal scar\u2010like depressions resembling forceps marks and variable additional facial manifestations. No gene defects or gene loci for FFDD are known to date. We report on a large multi\u2010generational German family with typical characteristics of FFDD and provide a detailed clinical description of four affected individuals. They had large bitemporal discolored dermal depressions, sparse lateral eyebrows, abnormal eyelashes, and dysplastic and low\u2010set ears. Three of the four affected individuals had congenital horizontal nystagmus, which had hitherto only been reported in a single patient with FFDD. In contrast to previous assumptions about an autosomal recessive etiology of this disorder, this family provides further evidence that FFDD is inherited in an autosomal dominant mode. Although this family is not large enough to yield significant results in linkage analysis, it may, in combination with other families, contribute to the identification of a gene locus for this intriguing ectodermal disorder. \u00a9 2009 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32728","type":"journal-article","created":{"date-parts":[[2009,3,16]],"date-time":"2009-03-16T19:08:04Z","timestamp":1237230484000},"page":"746-750","source":"Crossref","is-referenced-by-count":12,"title":["Autosomal dominant inheritance in a large family with focal facial dermal dysplasia (Brauer\u2013Setleis syndrome)"],"prefix":"10.1002","volume":"149A","author":[{"given":"Luitgard M.","family":"Graul\u2010Neumann","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karola M.","family":"Stieler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ulrike","family":"Blume\u2010Peytavi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreas","family":"Tzschach","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2009,3,24]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-199607000-00009"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-199207000-00006"},{"key":"e_1_2_5_4_1","first-page":"1163","article-title":"Heredit\u00e4rer symmetrischer systematisierter Naevus aplasticus bei 38 Personen","volume":"89","author":"Brauer A","year":"1929","journal-title":"Derm Wschr"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/0190-9622(91)70211-J"},{"key":"e_1_2_5_6_1","doi-asserted-by":"crossref","first-page":"127","DOI":"10.3928\/0191-3913-19920301-17","article-title":"Ophthalmic manifestations of Setleis forceps marks syndrome: A case report","volume":"29","author":"Frederick DR","year":"1992","journal-title":"J Pediatr Ophthalmol Strabismus"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.1971.tb02524.x"},{"key":"e_1_2_5_8_1","first-page":"A93","article-title":"Evidence that the Setleis and Brauer syndromes of focal dermal hypoplasia are the same entity","volume":"57","author":"Kaplan P","year":"1995","journal-title":"Am J Hum Genet"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.3129\/i07-065"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/0190-9622(92)70225-5"},{"key":"e_1_2_5_11_1","first-page":"895","article-title":"Autosomal recessive inheritance in the Setleis bitemporal 'forceps marks' syndrome","volume":"141","author":"Marion RW","year":"1987","journal-title":"Am J Dis Child"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320570113"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10632"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.1973.01620190063015"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32163"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.0736-8046.2004.21119.x"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.32.4.540"},{"key":"e_1_2_5_18_1","doi-asserted-by":"crossref","first-page":"378","DOI":"10.3928\/0191-3913-19971101-11","article-title":"Absent meibomian glands in Setleis syndrome","volume":"34","author":"Suner IJ","year":"1997","journal-title":"J Pediatr Ophthalmol Strabismus"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.1994.tb13113.x"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.32728","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.32728","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T04:13:32Z","timestamp":1697602412000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.32728"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,3,24]]},"references-count":18,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2009,4]]}},"alternative-id":["10.1002\/ajmg.a.32728"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.32728","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,3,24]]}}}