{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,9]],"date-time":"2026-09-09T02:41:52Z","timestamp":1788921712254,"version":"build-2803163510"},"reference-count":16,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,6,4]],"date-time":"2005-06-04T00:00:00Z","timestamp":1117843200000},"content-version":"vor","delay-in-days":6486,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1987,9]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>A genetic follow\u2010up study has been performed of 64 infants who were diagnosed as having Pierre Robin complex over a 23\u2010year period in South Australia. Patients and their families were contacted, family history was obtained, and physical examinations were performed with an aim to detect heterogeneity and establish recurrence risks. In 16 deceased patients, detailed autopsy reports allowed the conclusion that 12 (70%) had an underlying syndrome. Twelve of the 47 living patients (26%) were diagnosed as having an underlying syndrome, the most common of which was Stickler syndrome (6 cases). In most cases separation of syndromic cases from the nonsyndromic cases was possible in the neonatal period. In the 34 patients without an underlying syndrome, study of pregnancy and birth details did not reveal any distinctive etiologic factors. There was no recurrence in sibs of this group of patients with nonsyndromic Pierre Robin complex.<\/jats:p>","DOI":"10.1002\/ajmg.1320280105","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T22:58:59Z","timestamp":1118530739000},"page":"25-36","source":"Crossref","is-referenced-by-count":70,"title":["A genetic follow\u2010up study of 64 patients with the Pierre Robin complex"],"prefix":"10.1002","volume":"28","author":[{"given":"L. J.","family":"Sheffield","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. A.","family":"Reiss","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"Strohm","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Gilding","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John M.","family":"Opitz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James F.","family":"Reynolds","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,4]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(82)80348-X"},{"key":"e_1_2_1_3_1","first-page":"200","volume-title":"Clinical Atlas of Human Chromosomes","author":"de Grouchy J","year":"1984"},{"key":"e_1_2_1_4_1","doi-asserted-by":"crossref","first-page":"336","DOI":"10.1542\/peds.36.3.336","article-title":"The Pierre Robin syndrome","volume":"36","author":"Dennison WM","year":"1965","journal-title":"Pediatrics"},{"key":"e_1_2_1_5_1","first-page":"132","volume-title":"Syndromes of the Head and Neck","author":"Gorlin RJ","year":"1976"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(75)80063-1"},{"key":"e_1_2_1_7_1","first-page":"77","article-title":"The Stickler syndrome (Hereditary arthroopthalmopathy)","author":"Herrmann J","year":"1975","journal-title":"Birth Defects"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(81)80324-1"},{"key":"e_1_2_1_9_1","first-page":"84","article-title":"Editorial Comment: The Brachmann de Lange syndrome. Evidence for autosomal dominant inheritance","volume":"22","author":"Opitz JM","year":"1985","journal-title":"Am J Med Genet"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM197203092861020"},{"key":"e_1_2_1_11_1","first-page":"270","volume":"21","author":"Pasyayan HM","year":"1984","journal-title":"Cleft Palate Journal"},{"key":"e_1_2_1_12_1","first-page":"607","article-title":"Pierre Robin syndrome\u2014type and degree of developmental anomalies in 62 newborns and infants","volume":"56","author":"Poradowska W","year":"1981","journal-title":"Pediatr Polsk"},{"key":"e_1_2_1_13_1","first-page":"29","article-title":"Growth of mandible in infants with micrognathia","volume":"88","author":"Pruzansky S","year":"1954","journal-title":"Am J Dis Child"},{"key":"e_1_2_1_14_1","first-page":"237","article-title":"Pierre Robin and the syndrome that bears his name","volume":"2","author":"Randall P","year":"1965","journal-title":"Cleft Palate J"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320200404"},{"key":"e_1_2_1_16_1","unstructured":"South Australian Perinatal Statistical Collection(1981): First Annual Report January to December 1981. 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