{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,25]],"date-time":"2023-10-25T05:53:40Z","timestamp":1698213220792},"reference-count":47,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":4963,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1991,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>In the malformation analysis of 445 patients ascertained <jats:italic>only<\/jats:italic> for a sacrococcygeal malformation, a new phenotype, the sacrococcygeal dysgenesis association (SDA), was delineated in 34%. In addition, sirenomelia patients were found in 12%, the VATER association in 27%, and 27% could not be classified. Heterogeneity in the patients with sacrococcygeal malformations was identified by the differences found in their associated malformations.<\/jats:p><jats:p>SDA patients have a relatively small average number (3.3) of anomalies per patient as compared with 9.3 in sirenomelia and 6.2 in VATER patients. SDA abnormalities occurred to a significant degree only in <jats:italic>6<\/jats:italic> of <jats:italic>20<\/jats:italic> designated malformation categories (vertebral, rib, pelvic, lower limb, central nervous system [CNS], renal) in contrast to 17 in VATER and 18 in sirenomelia patients. The SDA vertebral malformation pattern also differed from that of VATER\/sirenomelia patients as did the high sacrococcygeal agenesis: dysgenesis ratio and low thoracolumbar vertebrae and\/or rib hypersegmentations. Most significantly, SDA patients had a large number of CNS anomalies and CNS\u2010related dysfunctions of the urinary and distal intestinal tracts but <jats:italic>no<\/jats:italic> anatomic urinary or intestinal tract malformations. This contrasted sharply with the markedly increased occurrences of anatomic abnormalities in these body regions of the sirenomelia and VATER patients.<\/jats:p><jats:p>Demographic data such as patient survival, twinning and, particularly, the high (28%) incidence of maternal diabetes in the SDA further support its differentiation from VATER\/sirenomelia patients.<\/jats:p>","DOI":"10.1002\/ajmg.1320410203","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T03:45:45Z","timestamp":1118547945000},"page":"153-161","source":"Crossref","is-referenced-by-count":25,"title":["Sacrococcygeal dysgenesis association"],"prefix":"10.1002","volume":"41","author":[{"given":"Peter A.","family":"Duncan","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lawrence R.","family":"Shapiro","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert M.","family":"Klein","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"54","article-title":"Occurrence of a non\u2010allantoic or vitelline placenta in the human subject","volume":"23","author":"Ballantyne JW","year":"1897","journal-title":"Trans Edinburgh Obstet Soc"},{"key":"e_1_2_1_3_1","first-page":"721","article-title":"IX. 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