{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,19]],"date-time":"2026-10-19T03:49:57Z","timestamp":1792381797197,"version":"4.4.0"},"reference-count":7,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":7946,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1983,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A daughter of second cousins is described as having lipoatrophic diabetes, unusual facial appearance, generalized hypotrichosis, two natal teeth with enamel dysplasia, eruption of four dysplastic deciduous teeth, absence of permanent dentition, low birth weight, short stature, lumbar scoliosis, renal alterations, aplasia of a breast and hypoplasia of the other, hypoplastic and hypopigmented areolae with diffuse limits, hyperostosis of the cranial vault, metacarpal hypoplasias, difficulty of grasping with the left hand, exertional dyspnea, absence of DIP extension and flexion creases, dermatoglyphic alterations, and other anomalies. Her sister, dead at 1 1\/2 years, had had some manifestations of the condition; seven sibs are normal. It is more likely that the whole clinical picture represents a single syndrome rather than homozygosity of different autosomal\u2010recessive genes.<\/jats:p>","DOI":"10.1002\/ajmg.1320160106","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T18:55:51Z","timestamp":1118516151000},"page":"29-33","source":"Crossref","is-referenced-by-count":24,"title":["AREDYLD: A syndrome combining an acrorenal field defect, ectodermal dysplasia, lipoatrophic diabetes, and other manifestations"],"prefix":"10.1002","volume":"16","author":[{"given":"Marta","family":"Pinheiro","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Newton","family":"Freire\u2010Maia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eleidi A.","family":"Chautard\u2010Freire\u2010Maia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leila M. B.","family":"Araujo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernardo","family":"Liberman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John M.","family":"Opitz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1159\/000152419"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1017\/S0001566000009910"},{"key":"e_1_2_1_4_1","volume-title":"Ectodermal Dysplasias. A Clinical and Genetic Study","author":"Freire\u2010Maia N","year":"1983"},{"key":"e_1_2_1_5_1","unstructured":"NunesmaiaHG da S(1976):Estudo antropom\u00e9trico da regio ocular externa em adultos de diferentes grupos \u00e9tnicos e em portadores de s\u00edndrome de Turner. MSc thesis University of So Paulo Brazil."},{"key":"e_1_2_1_6_1","first-page":"71","article-title":"Terminological, diagnostic, nosological, and anatomical\u2010developmental aspects of developmental defects in man. Part I: Terminological and epistemological considerations of human malformations","volume":"9","author":"Opitz JM","year":"1979","journal-title":"Adv Hum Genet"},{"key":"e_1_2_1_7_1","first-page":"65","article-title":"\u201cRecent topics in Clinical Genetics.\u201d Shodair Hospital. Helena, Montana; Renwick JH (1969): Progress in mapping human autosomes","volume":"25","author":"Opitz JM","year":"1981","journal-title":"Br Med Bull"},{"key":"e_1_2_1_8_1","first-page":"892","volume-title":"Metabolic, Endocrine, and Genetic Disorders of Children","author":"Ruvalcaba RHA","year":"1974"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320160106","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320160106","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,20]],"date-time":"2023-10-20T11:46:34Z","timestamp":1697802394000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320160106"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1983,9]]},"references-count":7,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1983,9]]}},"alternative-id":["10.1002\/ajmg.1320160106"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320160106","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1983,9]]}}}