{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:06:10Z","timestamp":1761717970063},"reference-count":7,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":4644,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1992,9,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on a boy with short stature, mental retardation, seizures, follicular ichthyosis, generalized alopecia, hypohydrosis, enamel dysplasia, photophobia, congenital aganglionic megacolon, inguinal hernia, vertebral, renal and other anomalies, and a normal chromosome constitution. The clinical findings include all the features that dermotrichic and ichthyosis follicularis\u2010alopecia\u2010photophobia (IFAP) syndrome have in common and in addition those that characterize IFAP syndrome (photophobia, recurrent respiratory infections, etc.), those that are present only in dermotrichic syndrome (nail anomalies, hypohydrosis, megacolon, vertebral defects, etc.) and additional ones (enamel dysplasia, renal anomalies, inguinal hernia, etc.). Two maternal uncles were referred as being affected by alopecia and ichthyosis suggesting X\u2010linked recessive transmission. Various hypotheses concerning the relationship between the 2 syndromes and the present case are discussed \u00a9 1992 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320440222","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T16:21:30Z","timestamp":1118506890000},"page":"233-236","source":"Crossref","is-referenced-by-count":34,"title":["Child with manifestations of dermotrichic syndrome and ichthyosis follicularis\u2010alopecia\u2010photophobia (IFAP) syndrome"],"prefix":"10.1002","volume":"44","author":[{"given":"F.","family":"Martino","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.","family":"D'Eufemia","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M. S.","family":"Pergola","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Finocchiaro","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Celli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G.","family":"Giamp\u00e0","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Frontali","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"O.","family":"Giardini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"49","article-title":"Ectodermal dysplasia\u2014a new variant","volume":"16","author":"Bartalos M","year":"1968","journal-title":"J Genet Hum"},{"key":"e_1_2_1_3_1","doi-asserted-by":"crossref","first-page":"1167","DOI":"10.1001\/archderm.1985.01660090081019","article-title":"Ichtyosis follicularis with alopecia and photophobia","volume":"121","author":"Eramo LR","year":"1985","journal-title":"Arch Dermatol"},{"key":"e_1_2_1_4_1","first-page":"126","volume-title":"Ectodermal Dysplasias: Clinical and Genetic Study","author":"Freire\u2010Maia N","year":"1984"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1987.tb02777.x"},{"key":"e_1_2_1_6_1","first-page":"243","article-title":"A case of multiple skeletal anomalies, ectodermal dysplasia, and severe growth and mental retardation","volume":"35","author":"Schinzel A","year":"1980","journal-title":"Helv Paediatr Acta"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(78)80073-0"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320130406"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320440222","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320440222","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,23]],"date-time":"2023-10-23T13:57:12Z","timestamp":1698069432000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320440222"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1992,9,15]]},"references-count":7,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1992,9,15]]}},"alternative-id":["10.1002\/ajmg.1320440222"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320440222","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1992,9,15]]}}}