{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,13]],"date-time":"2026-02-13T17:17:48Z","timestamp":1771003068065,"version":"3.50.1"},"reference-count":12,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":5271,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1991,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>VACTERL association with hydrocephalus is rarely reported, and is thought to be an autosomal recessive uniformly lethal disorder distinct from the VATER association. We have observed 3 patients in a 12\u2010month period with hydrocephalus due to aqueductal stenosis, in addition to vertebral anomalies (3\/3), anal anomalies (3\/3), cardiac anomalies (3\/3), tracheoesophageal fistula (1\/3), renal anomalies (3\/3), limb anomalies (3\/3), single umbilical artery (2\/3), hypospadias (1\/3), and cryptorchidism (1\/2). Chromosomes were normal in all cases. Although one patient died in the neonatal period due to respiratory failure, 2 have survived (30 months and 19 months) with good neurological outcome following early neurosurgical treatment. Although delayed in motor development, both are interactive, social, and continue to make developmental progress. Appropriate surgical treatment, including early ventriculoperitoneal shunting, allowed for the survival of 2 patients with an unexpectedly good outcome. Our experience suggests that the extremely poor prognosis previously ascribed is not universal. We caution against labeling this syndrome as a uniformly lethal, developmentally devastating disorder.<\/jats:p>","DOI":"10.1002\/ajmg.1320380112","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T04:04:39Z","timestamp":1118549079000},"page":"46-51","source":"Crossref","is-referenced-by-count":43,"title":["VATER and hydrocephalus: Distinct syndrome?"],"prefix":"10.1002","volume":"38","author":[{"given":"A. Kimberly","family":"Iafolla","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Allyn","family":"McConkie\u2010Rosell","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuan Tsong","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,7]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"255","article-title":"Neural defects in Say\u2010Gerald (VATER) syndrome","volume":"11","author":"Aleksic S","year":"1984","journal-title":"Childs Brain"},{"key":"e_1_2_1_3_1","first-page":"107","article-title":"The surgical treatment of congenital hydrocephalus","volume":"30","author":"Alvisi C","year":"1986","journal-title":"J Neurol Sci"},{"key":"e_1_2_1_4_1","first-page":"217","article-title":"Infantile hydrocephalus: long term results of surgical therapy","volume":"11","author":"Amacher AL","year":"1984","journal-title":"Childs Brain"},{"key":"e_1_2_1_5_1","first-page":"220","article-title":"Association VACTERL et hydrocephalie: Une nouvelle entit\u00e9 familiale","volume":"27","author":"Briard ML","year":"1984","journal-title":"Ann Genet (Paris)"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320340209"},{"key":"e_1_2_1_7_1","first-page":"602","volume-title":"Smith's Recognizable Patterns of Human Malformation","author":"Jones KL","year":"1989"},{"key":"e_1_2_1_8_1","doi-asserted-by":"crossref","unstructured":"LubinskyM(1986):Current concepts: VATER and other associations: Historical perspectives and modern interpretations. Am J Hum Genet9\u201316.","DOI":"10.1002\/ajmg.1320250603"},{"key":"e_1_2_1_9_1","first-page":"664","article-title":"Intellectual development in shunted hydrocephalic children","volume":"127","author":"Raimondi AJ","year":"1974","journal-title":"Am J Dis Child"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00270917"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(68)92549-X"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.3171\/jns.1975.42.1.0061"},{"key":"e_1_2_1_13_1","unstructured":"SujanskyE LeonardB(1983):VACTERL Association with hydrocephalus\u2013A new recessive syndrome?Am J Hum Genet119A."}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320380112","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320380112","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,23]],"date-time":"2023-10-23T03:23:43Z","timestamp":1698031423000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320380112"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1991,1]]},"references-count":12,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1991,1]]}},"alternative-id":["10.1002\/ajmg.1320380112"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320380112","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1991,1]]}}}