{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T04:33:52Z","timestamp":1792643632166,"version":"4.5.0"},"reference-count":34,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,6,6]],"date-time":"2005-06-06T00:00:00Z","timestamp":1118016000000},"content-version":"vor","delay-in-days":5027,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1991,9]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>The occurrence of Adams\u2010Oliver syndrome in a patient from the same geographic area as the first reported kindred led to follow\u2010up of the original family, and to a survey of the literature. Of 81 cases in 32 families, there is an approximately equal distribution between sexes (38 males: 43 females). Vertical transmission in at least 8 families is consistent with autosomal dominant inheritance. The phenotype is variable with a range of mild\u2010to\u2010severe defects of the scalp and\/or underlying bone. Despite large defects of the cranium, central nervous system abnormalities have not been found and intellectual development appears to be normal. Limb defects are usually limited to the digits, but may involve the long bones and are entirely absent in some obligate carriers of the gene. Cutis marmorata and tortuous, dilated scalp veins have been reported in association with the major head and limb defects, but also in isolation as a forme fruste phenotype. Thus, there is a broad range of variable expression ranging from cases with lethally hemorrhagic cranial defects and\/or severe limb malformations, to patients without any apparent manifestations. Despite a phenotypic resemblance to isolated aplasia cutis congenita and to the syndrome of terminal transverse limb defects, Adams\u2010Oliver syndrome appears to be causally distinct. While the underlying pathophysiologic mechanism remains unknown, it can be speculated that cranial vertex defects and malformations of the limbs represent field defects resulting from impaired circulation in \u201cwatershed\u201d areas during a critical period of development.<\/jats:p>","DOI":"10.1002\/ajmg.1320400315","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T00:24:13Z","timestamp":1118535853000},"page":"319-326","source":"Crossref","is-referenced-by-count":72,"title":["Adams\u2010Oliver syndrome revisited"],"prefix":"10.1002","volume":"40","author":[{"given":"Chester B.","family":"Whitley","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert J.","family":"Gorlin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,6]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1177\/000992286900800718"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/oxfordjournals.jhered.a105415"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320030109"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.13.6.466"},{"key":"e_1_2_1_6_1","first-page":"613","article-title":"Aplasie cutan\u00e9o\u2010osseuse du scalp avec anomalie des extr\u00e9mit\u00e9s","volume":"22","author":"Chabrolle J\u2010P","year":"1975","journal-title":"Ann P\u00e9diatr (Paris)"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1097\/00000658-195612000-00014"},{"key":"e_1_2_1_8_1","first-page":"631","article-title":"Berichte aus gyn\u00e4kologischen Gesellschaften","volume":"34","author":"Engelmann","year":"1910","journal-title":"Zentralb Gynakol"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1097\/00006534-196004000-00001"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0190-9622(86)70082-0"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00477056"},{"key":"e_1_2_1_12_1","volume-title":"Syndromes of the Head and Neck","author":"Gorlin RJ","year":"1990"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1097\/00006534-198311000-00026"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1097\/00006534-198008000-00003"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01957693"},{"key":"e_1_2_1_16_1","first-page":"86","article-title":"Multiple disruptive structural defects secondary to a genetically determined alteration in vascular development","volume":"4","author":"Jones KL","year":"1985","journal-title":"Proc Greenwood Genet Center"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1097\/00006534-195012000-00003"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320290203"},{"key":"e_1_2_1_19_1","first-page":"319","article-title":"Aplasia cutis congenita","volume":"127","author":"Loewenich V","year":"1974","journal-title":"Monatsschr Kinderheilkd"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.3171\/jns.1970.33.2.0198"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1177\/000992287701600705"},{"key":"e_1_2_1_22_1","first-page":"39","article-title":"A propos des ag\u00e9n\u00e9sies cutan\u00e9es cong\u00e9nitales: Six nouvelles observations","volume":"14","author":"Ollivier D","year":"1969","journal-title":"Ann Chir Plast"},{"key":"e_1_2_1_23_1","first-page":"96","article-title":"Nouveau\u2010n\u00e9e avec ulceration cong\u00e9nitale du cuir chevelu mutilations multiples des phalanges et syndactylie partielle","volume":"41","author":"Pincherle B","year":"1938","journal-title":"Arch Med Enfants"},{"key":"e_1_2_1_24_1","first-page":"209","article-title":"The problem of congenital skin defect","volume":"10","author":"Rosenbaum S","year":"1951","journal-title":"Acta Med Orient"},{"key":"e_1_2_1_25_1","doi-asserted-by":"crossref","first-page":"514","DOI":"10.1001\/archinte.1981.00340040110026","article-title":"Teratogenic effects of antileukemic chemotherapy","volume":"141","author":"Schafer AL","year":"1981","journal-title":"Arch Intern Med"},{"key":"e_1_2_1_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(75)80074-6"},{"key":"e_1_2_1_27_1","volume-title":"Diagnostic Accuracy: Effect on Treatment Planning","author":"Shapiro SD","year":"1985"},{"issue":"2","key":"e_1_2_1_27_2","first-page":"135","author":"National Foundation\u2010March of Dimes","journal-title":"BD:OAS"},{"key":"e_1_2_1_28_1","first-page":"1","article-title":"Focal deficiencies in fetal tissues and their relation to intrauterine amputation","volume":"22","author":"Streeter GL","year":"1930","journal-title":"Publications Carnegie Inst"},{"key":"e_1_2_1_29_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1525-1470.1985.tb00478.x"},{"key":"e_1_2_1_30_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320320230"},{"key":"e_1_2_1_31_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320290204"},{"key":"e_1_2_1_32_1","doi-asserted-by":"publisher","DOI":"10.1097\/00006534-196008000-00007"},{"key":"e_1_2_1_33_1","volume-title":"Dysmorphology","author":"Wilson WG","year":"1982"},{"issue":"3","key":"e_1_2_1_33_2","first-page":"123","author":"National Foundation\u2010March of Dimes","journal-title":"BDOAS"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320400315","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320400315","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,22]],"date-time":"2023-10-22T17:35:14Z","timestamp":1697996114000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320400315"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1991,9]]},"references-count":34,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1991,9]]}},"alternative-id":["10.1002\/ajmg.1320400315"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320400315","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1991,9]]}}}