{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T09:10:03Z","timestamp":1697620203437},"reference-count":19,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2003,1,15]],"date-time":"2003-01-15T00:00:00Z","timestamp":1042588800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2003,5,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report a 7.5\u2010year\u2010old boy with loose translucent skin, aortic dilatation, hyperextensible veins, recurrent respiratory problems, pectus excavatum, arthralgias, lax joints, mild epiphyseal dysplasia, and umbilical and inguinal hernias. He also has developmental delay, progressive bilateral sensorineural hearing loss, an unusual facial appearance, terminal digit hypoplasia with unusual radiographic changes in some of the phalanges, glandular hypospadias, shawl scrotum, and undescended testes. Biochemical investigations, including electrophoresis of Types 1 and 3 procollagens and collagens, and quantification of serum copper and ceruloplasmin, are normal. Relative to age\u2010matched control patients the electron micrographs of the boy's dermis show elastin fibers to be decreased in number, and abnormal in appearance, with a low matrix to microfibril ratio. The organ distribution of abnormalities and the nature of the findings suggest a connective tissue disorder. We contrast and compare this boy's phenotype to those of the classic connective tissue disorders. We conclude that he has cutis laxa with features that distinguish him from previously described types of cutis laxa. \u00a9 2003 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.10175","type":"journal-article","created":{"date-parts":[[2003,4,17]],"date-time":"2003-04-17T10:01:57Z","timestamp":1050573717000},"page":"57-62","source":"Crossref","is-referenced-by-count":5,"title":["A boy with developmental delay, malformations, and evidence of a connective tissue disorder\u2014possibly a new type of cutis laxa"],"prefix":"10.1002","volume":"119A","author":[{"given":"Linlea","family":"Armstrong","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carmencita","family":"Jimenez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alasdair G.W.","family":"Hunter","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2003,1,15]]},"reference":[{"key":"e_1_2_6_2_1","first-page":"269","article-title":"Aortic dissection, patent ductus arteriosus, iris hypoplasia, and brachytelephalangy in a male adolescent","volume":"8","author":"Ad\u00e8s LC","year":"1999","journal-title":"Clin Dysmorphol"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980428)77:1<31::AID-AJMG8>3.0.CO;2-O"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1994.tb04040.x"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1525-1470.1999.00027.x"},{"key":"e_1_2_6_6_1","first-page":"51","article-title":"Structural molecules of connective tissue matrices","volume":"105","author":"Dell'Orbo C","year":"2000","journal-title":"Itali J Anat Embryol"},{"key":"e_1_2_6_7_1","doi-asserted-by":"crossref","first-page":"7s","DOI":"10.1111\/1523-1747.ep12544609","article-title":"Structural abnormalities in the dermal collagen and elastic matrix from the skin of patients with inherited connective tissue disorders","volume":"79","author":"Holbrood KA","year":"1982","journal-title":"J Investigative Derm"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1990.tb03585.x"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1994.tb03988.x"},{"key":"e_1_2_6_10_1","first-page":"282","volume-title":"Smith's recognizable patterns of human malformation","author":"Jones KL","year":"1997"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1997.tb02430.x"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1997)9:4<300::AID-HUMU2>3.0.CO;2-9"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1159\/000249465"},{"key":"e_1_2_6_14_1","unstructured":"London Dysmorphology Database Oxford Medical Databases 2000 Oxford University Press Great Britian"},{"key":"e_1_2_6_15_1","unstructured":"World Wide WebURL: (http:\/\/www.oup.co.uk\/omd)."},{"key":"e_1_2_6_16_1","unstructured":"Online Mendelian Inheritance in Man OMIM (TM).McKusick\u2010Nathans Institute for Genetic Medicine Johns Hopkins University (Baltimore MD) and National Center for Biotechnology Information National Library of Medicine (Bethesda MD) 2000."},{"key":"e_1_2_6_17_1","unstructured":"World Wide WebURL: (http:\/\/www.ncbi.nlm.nih.gov\/omim\/)."},{"key":"e_1_2_6_18_1","unstructured":"Pictures of Standardized Syndromes and Undiagnosed Malformations POSSUM (TM).The Murdoch Institute and the Telemedia Software Labs Royal Children's Hospital (Melbourne Australia) 2000."},{"key":"e_1_2_6_19_1","unstructured":"World Wide WebURL: (http:\/\/www.possum.net.au)."},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.274.2.981"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.10175","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.10175","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T08:30:16Z","timestamp":1697617816000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.10175"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,1,15]]},"references-count":19,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2003,5,15]]}},"alternative-id":["10.1002\/ajmg.a.10175"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.10175","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2003,1,15]]}}}