{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,5]],"date-time":"2026-02-05T12:03:52Z","timestamp":1770293032364,"version":"3.49.0"},"reference-count":13,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2005,6,6]],"date-time":"2005-06-06T00:00:00Z","timestamp":1118016000000},"content-version":"vor","delay-in-days":5362,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1990,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>GAPO syndrome was described in 12 patients from 7 families. Constant manifestations include dwarfism, alopecia, pseudoanodontia, and a peculiar, \u201cgeriatric\u201d facial appearance. We describe the autopsy findings and all available clinical data on one deceased patient and his living affected sister, previously reported as short abstracts (Epps et al.: Cienc Cult 29(Suppl):740, 1977; Wajntal et al.: Cienc Cult 34(Suppl):705, 1982). Both had the characteristic anomalies of this syndrome but optic atrophy was absent; instead, they had glaucoma and keratoconus; hypogonadism was present in both patients. Biopsy and autopsy findings show that the GAPO syndrome is a dyshistogenetic sequence due to accumulation of extracellular material and thus should be called GAPO dysplasia. We suggest that the basic defect in this autosomal recessive disorder is possibly related to a lack of breakdown of the extracellular components, perhaps due to an enzyme deficiency involved in the metabolism of extracellular matrix.<\/jats:p>","DOI":"10.1002\/ajmg.1320370210","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T03:12:14Z","timestamp":1118545934000},"page":"213-223","source":"Crossref","is-referenced-by-count":51,"title":["GAPO syndrome (McKusick 23074)\u2014A connective tissue disorder: Report on two affected sibs and on the pathologic findings in the older"],"prefix":"10.1002","volume":"37","author":[{"given":"Anita","family":"Wajntal","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C\u00e9lia P.","family":"Koiffmann","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Berenice B.","family":"Mendon\u00e7a","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dorina","family":"Epps\u2010Quaglia","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Myriam Nacagami","family":"Sotto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patr\u00edcia B. M.","family":"Rati","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John M.","family":"Opitz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,6]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"484","article-title":"Et tilfaelde at total \u201cpseudoanodonti\u201d i forbindelese med kranie deformitet, dvaergvaekst og ektodermal dysplasi","volume":"55","author":"Andersen TH","year":"1947","journal-title":"Odontol Tislster"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.74.10.4646"},{"key":"e_1_2_1_4_1","first-page":"740","article-title":"Poiquiloderma cong\u011bnito familiar (S. de Rothmund\u2010Thompson)","volume":"29","author":"Epps DR","year":"1977","journal-title":"Cienc Cult"},{"key":"e_1_2_1_5_1","first-page":"98","volume-title":"Ectodermal Dysplasias\u2013A Clinical and Genetic Study","author":"Freire\u2010Maia N","year":"1984"},{"key":"e_1_2_1_6_1","first-page":"155","article-title":"Pseudoanodontia, cranial deformity, blindness, alopecia and dwarfism: A new syndrome","volume":"45","author":"Fuks A","year":"1978","journal-title":"J Dent Child"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320190203"},{"key":"e_1_2_1_8_1","unstructured":"GorlinRJ TiptonRE LangerLOJr(1978)Pseudoanodontia growth retardation and alopecia: A syndrome. Paper presented at Annual Meeting of American Academy of Oral Pathology Fort Lauderdale FL 26 April 1978."},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320260323"},{"key":"e_1_2_1_10_1","first-page":"951","volume-title":"Mendelian Inheritance in Man Catalogs of Autosomal Dominant, Autosomal Recessive and X\u2010Linked Phenotypes","author":"McKusick VA","year":"1988"},{"key":"e_1_2_1_11_1","first-page":"14","article-title":"Growth retardation, alopecia, pseudoanodontia and optic atrophy","author":"Shapira Y","year":"1982","journal-title":"Synd Ident, case report 85"},{"key":"e_1_2_1_12_1","first-page":"743","article-title":"Dwarfism, alopecia, pseudoanodontia and other anomalies: Report of a case","volume":"7","author":"Silva EO","year":"1984","journal-title":"Rev Bras Genet"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320190202"},{"key":"e_1_2_1_14_1","first-page":"705","article-title":"Nova Sindrome de displasia ectodermica: Nanismo, alopecia, anodontia e cutis laxa","volume":"34","author":"Wajntal A","year":"1982","journal-title":"Cienc Cult"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320370210","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320370210","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,22]],"date-time":"2023-10-22T15:53:23Z","timestamp":1697990003000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320370210"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1990,10]]},"references-count":13,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1990,10]]}},"alternative-id":["10.1002\/ajmg.1320370210"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320370210","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1990,10]]}}}