{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T00:34:12Z","timestamp":1760747652706,"version":"build-2065373602"},"reference-count":6,"publisher":"BMJ","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1998,2]]},"abstract":"<jats:p>We present two unrelated children, a male and a female, with signs of ectodermal dysplasia, mental retardation, agenesis\/ dysgenesis of the corpus callosum, and primary hypothyroidism. Reports of ectodermal dysplasia with CNS malformations or hypothyroidism or both are rare. We suggest that the condition we describe is a distinct entity within the large group of ectodermal dysplasia syndromes and that it has a variable clinical spectrum. As both males and females are affected and in a few reports some parents show minimal signs, the inheritance is likely to be autosomal dominant.<\/jats:p>","DOI":"10.1136\/jmg.35.2.157","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:37:21Z","timestamp":1226331441000},"page":"157-158","source":"Crossref","is-referenced-by-count":4,"title":["Ectodermal dysplasia, primary hypothyroidism, and agenesis of the corpus callosum: variable expression of a single syndrome?"],"prefix":"10.1136","volume":"35","author":[{"given":"M","family":"Silengo","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L","family":"Silvestro","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G","family":"Capizzi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Lerone","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Seri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L","family":"Rosaia","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G","family":"Romeo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1998,2,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"520","DOI":"10.1136\/jmg.26.8.520","article-title":"Hypohidrotic ectodermal dysplasia, primary hypothyroidism and agenesis ofthe corpus callosum","volume":"26","author":"Fryns, J.P.; Chekanowska, K.; Van Den Berghe, H.","year":"1989","unstructured":"Fryns JP, Chekanowska K, Van Den Berghe H. Hypohidrotic ectodermal dysplasia, primary hypothyroidism and agenesis ofthe corpus callosum.JMed Genet 1989;26:520-1.","journal-title":"JMed Genet"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1136\/jmg.30.3.245","article-title":"Hypohidrotic ectodermal dysplasia, central nervous system malformation. and distinct facial features: confirmation of a distinct entity?","volume":"30","author":"Soekarman, D.; Fryns, J.P.","year":"1992","unstructured":"Soekarman D, Fryns JP. Hypohidrotic ectodermal dysplasia, central nervous system malformation. and distinct facial features: confirmation of a distinct entity? 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J Med Genet 1996;33:224-6.","journal-title":"J Med Genet"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"226","DOI":"10.1002\/(SICI)1096-8628(19970808)71:2<226::AID-AJMG21>3.0.CO;2-F","article-title":"Trichorrhexis nodosa and lip pits in autosomal dominant ectodermal dysplasia central nervous system malformation syndrome","volume":"71","author":"Silengo, M.; Pietragalla, A.; Jarre, L.","year":"1997","unstructured":"Silengo M, Pietragalla A, Jarre L. Trichorrhexis nodosa and lip pits in autosomal dominant ectodermal dysplasia central nervous system malformation syndrome. AmJMed Genet 1997;71:226-8.","journal-title":"AmJMed Genet"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1016\/S0022-3476(81)80639-7","article-title":"Hypohidrotic ectodermal dysplasia with hypothyroidism","volume":"98","year":"1981","unstructured":"Pabst HF, Groth 0, McCoy EE. Hypohidrotic ectodermal dysplasia with hypothyroidism. Jf Pediatr 1981;98:223-7.","journal-title":"Jf Pediatr"},{"key":"ref_6","first-page":"109","article-title":"A distinctive type of hypohidrotic ectodermal dysplasia featuring hypothyroidism","volume":"108","author":"Pike, M.G.; Baraitser, M.; Dinwiddie, R.; Atherton, J.","year":"1986","unstructured":"Pike MG, Baraitser M, Dinwiddie R, Atherton J. A distinctive type of hypohidrotic ectodermal dysplasia featuring hypothyroidism. _J Pediarr 1986;108:109-1 1.","journal-title":"_J Pediarr"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.35.2.157","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T19:03:23Z","timestamp":1760727803000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.35.2.157"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1998,2]]},"references-count":6,"journal-issue":{"issue":"2","published-online":{"date-parts":[[1998,2,1]]},"published-print":{"date-parts":[[1998,2]]}},"alternative-id":["10.1136\/jmg.35.2.157"],"URL":"https:\/\/doi.org\/10.1136\/jmg.35.2.157","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1998,2]]}}}