{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T19:14:48Z","timestamp":1760728488447,"version":"build-2065373602"},"reference-count":16,"publisher":"BMJ","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1976,6]]},"abstract":"<jats:p>A total of 85 members of a family in which several individuals presented with hypodontia, hypotrichosis, and hypohidrosis were examined. Of these, 77 were evaluated clinically and the results compared with those obtained in an equal number of carefully chosen controls. The main symptoms among the affected males and females involved changes in the quantity and texture of head hair and in the distrubution of body hair. More than half of the males also showed precocious baldness, and 6 of them had dyskeratosis. The average of missing teeth was 12 among men with the syndrome, but only 2 among the obligate female carriers. The sweat pore counts were lower in the two sexes (42% and 60% of the normal values, respectively), and a much higher degree of asymmetry was observed especially among the affected women. Inheritance of the syndrome seems to be the result of a dominant sex-linked gene with 78% to 87.5% penetrance in the females. Genetic data concerning anhidrotic ectodermal dysplasia are still unsatisfactory; new, more detailed studies are needed, in which special attention is given to the female carriers.<\/jats:p>","DOI":"10.1136\/jmg.13.3.212","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:50:51Z","timestamp":1226328651000},"page":"212-216","source":"Crossref","is-referenced-by-count":14,"title":["X-linked anhidrotic ectodermal dysplasia with some unusual features."],"prefix":"10.1136","volume":"13","author":[{"given":"W M","family":"Settineri","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F M","family":"Salzano","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M J","family":"Fretas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1976,6,1]]},"reference":[{"key":"ref_1","first-page":"1051","article-title":"A propos de sept observations de dysplasie ectodermique chez des sujets de sexe feminin dont six dans la meme famille. Discussion genetique","volume":"20","author":"Bernard, R.; Giraud, F.; Rouby, M.; Hartung, M.","year":"1963","unstructured":"Bernard, R., Giraud, F., Rouby, M., and Hartung, M. (1963). A propos de sept observations de dysplasie ectodermique chez des sujets de sexe feminin dont six dans la meme famille. Discussion genetique. Archives Franfaises de Pediatrie, 20, 1051-1061.","journal-title":"Archives Franfaises de Pediatrie"},{"key":"ref_2","first-page":"466","article-title":"Hypohidrotic ectodermal dysplasia. A study of sweat pores in the X-linked form and in a family with probable autosomal recessive inheritance","volume":"78","author":"Crump, I.A.; Danks, D.M.","year":"1971","unstructured":"Crump, I. A. and Danks, D. M. (1971). Hypohidrotic ectodermal dysplasia. A study of sweat pores in the X-linked form and in a family with probable autosomal recessive inheritance. 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Human Heredity, 21, 309-312.","journal-title":"Human Heredity"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"606","DOI":"10.1016\/S0022-3476(68)80002-2","article-title":"Diminished sweat pores in hypohidrotic ectodermal dysplasia: a new method for assessment","volume":"72","author":"Frias, J.L.; Smith, D.W.","year":"1968","unstructured":"Frias, J. L. and Smith, D. W. (1968). Diminished sweat pores in hypohidrotic ectodermal dysplasia: a new method for assessment. Journal of Pediatrics, 72, 606-610.","journal-title":"Journal of Pediatrics"},{"key":"ref_6","first-page":"459","article-title":"Anhidrotic ectodermal dysplasia associated with mental deficiency","volume":"46","author":"Halperin, S.L.; Curtis, G.M.","year":"1942","unstructured":"Halperin, S. L. and Curtis, G. M. (1942). Anhidrotic ectodermal dysplasia associated with mental deficiency. American Journal of Mental Deficiency, 46, 459-463.","journal-title":"American Journal of Mental Deficiency"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"507","DOI":"10.1001\/archderm.1971.04000170041010","article-title":"Sebaceous gland papules in anhidrotic ectodermal dysplasia","volume":"103","author":"Katz, S.I.; Penneys, N.S.","year":"1971","unstructured":"Katz, S. I. and Penneys, N. S. (1971). Sebaceous gland papules in anhidrotic ectodermal dysplasia. Archives of Dermatology, 103, 507-509.","journal-title":"Archives of Dermatology"},{"key":"ref_8","first-page":"135","article-title":"Sex chromatin and gene action in the mammalian X-chromosome","volume":"14","author":"Lyon, M.F.","year":"1962","unstructured":"Lyon, M. F. (1962). Sex chromatin and gene action in the mammalian X-chromosome. American Journal of Human Genetics, 14, 135-148.","journal-title":"American Journal of Human Genetics"},{"key":"ref_9","first-page":"31","article-title":"A family of congenital anhidrotic ectodermal dysplasia","volume":"17","author":"Mochizuki, Y.; Teramura, F.; Kawai, K.","year":"1971","unstructured":"Mochizuki, Y., Teramura, F., and Kawai, K. (1971). A family of congenital anhidrotic ectodermal dysplasia. Annales Paediatrici Japonici, 17, 31-46.","journal-title":"Annales Paediatrici Japonici"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1038\/newbio245058a0","article-title":"X chromosone inactivation in X-linked hypohidrotic ectodermal dysplasia","volume":"245","author":"Passarge, E.; Fries, E.","year":"1973","unstructured":"Passarge, E. and Fries, E. (1973). X chromosone inactivation in X-linked hypohidrotic ectodermal dysplasia. Nature New Biology, 245, 58-59.","journal-title":"Nature New Biology"},{"key":"ref_11","article-title":"The hair in anhidrotic ectodermal dysplasia: a new morphologic abnormality. Abstract, III World Congress of the International Society of Tropical Dermatology","author":"Porter, P.S.; Aoyagi, T.; Salzano, F.M.","year":"1974","unstructured":"Porter, P. S., Aoyagi, T., and Salzano, F. M. (1974). The hair in anhidrotic ectodermal dysplasia: a new morphologic abnormality. Abstract, III World Congress of the International Society of Tropical Dermatology."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"134","DOI":"10.1001\/archderm.1970.04000080006002","article-title":"Clinical spectrum of anhidrotic ectodermal dysplasia","volume":"102","author":"Reed, W.B.; Lopez, D.A.; Landing, B.","year":"1970","unstructured":"Reed, W. B., Lopez, D. A., and Landing, B. (1970). Clinical spectrum of anhidrotic ectodermal dysplasia. Archives of Dermatology, 102, 134-143.","journal-title":"Archives of Dermatology"},{"key":"ref_13","first-page":"599","article-title":"A measure of asymmetry of finger ridge counts","volume":"18","author":"Singh, S.","year":"1968","unstructured":"Singh, S. (1968). A measure of asymmetry of finger ridge counts. Acta Genetica et Statistica Medica, 18, 599-605.","journal-title":"Acta Genetica et Statistica Medica"},{"key":"ref_14","first-page":"412","article-title":"The identification and enumeration of active sweat glands in man from plastic impressions of the skin","volume":"47","author":"Thomson, M.L.","year":"1953","unstructured":"Thomson, M. L. and Sutarman (1953). The identification and enumeration of active sweat glands in man from plastic impressions of the skin. 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Hypohidrotic (or anhidrotic) ectodermal dysplasia-an appraisal of diagnostic methods. British Journal of Dermatology, 83, 341-348.","journal-title":"British Journal of Dermatology"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.13.3.212","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T18:36:33Z","timestamp":1760726193000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.13.3.212"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1976,6]]},"references-count":16,"journal-issue":{"issue":"3","published-online":{"date-parts":[[1976,6,1]]},"published-print":{"date-parts":[[1976,6]]}},"alternative-id":["10.1136\/jmg.13.3.212"],"URL":"https:\/\/doi.org\/10.1136\/jmg.13.3.212","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1976,6]]}}}