{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,12,31]],"date-time":"2024-12-31T19:10:20Z","timestamp":1735672220533,"version":"3.32.0"},"reference-count":33,"publisher":"FapUNIFESP (SciELO)","issue":"2b","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Arq. Neuro-Psiquiatr."],"published-print":{"date-parts":[[2004,6]]},"abstract":"<jats:p>Os objetivos deste estudo foram caracterizar a presen\u00e7a de poss\u00edveis quadros de etiologia gen\u00e9tica entre portadores de hidrocefalia cong\u00eanita de etiologia n\u00e3o anteriormente esclarecida e confirmar aqueles com etiologia identificada previamente. A casu\u00edstica comp\u00f4s-se de 16 pacientes portadores de hidrocefalia cong\u00eanita. O protocolo de investiga\u00e7\u00e3o incluiu anamnese, investiga\u00e7\u00e3o de hist\u00f3ria familial, exame cl\u00ednico-dismorfol\u00f3gico, tomografia computadorizada ou resson\u00e2ncia magn\u00e9tica de sistema nervoso central, radiografia vertebral simples, cari\u00f3tipo e estudo dismorfol\u00f3gico. Para an\u00e1lise dos resultados, a casu\u00edstica foi dividida em dois grupos. O Grupo I (3M:6F) caracterizado por indiv\u00edduos com hidrocefalia e sinais cl\u00ednicos inespec\u00edficos; o Grupo II (7M), em que os indiv\u00edduos apresentavam hidrocefalia cong\u00eanita e sinais sugestivos do espectro da doen\u00e7a L1. Orienta\u00e7\u00e3o gen\u00e9tica espec\u00edfica foi poss\u00edvel em 11 casos. Os resultados demonstram a heterogeneidade etiol\u00f3gica envolvida na hidrocefalia, evidenciando a necessidade de avalia\u00e7\u00e3o cl\u00ednico-dismorfol\u00f3gica como instrumento complementar na investiga\u00e7\u00e3o dessa condi\u00e7\u00e3o cl\u00ednica.<\/jats:p>","DOI":"10.1590\/s0004-282x2004000300019","type":"journal-article","created":{"date-parts":[[2005,4,15]],"date-time":"2005-04-15T14:38:22Z","timestamp":1113575902000},"page":"480-486","source":"Crossref","is-referenced-by-count":0,"title":["Import\u00e2ncia da avalia\u00e7\u00e3o gen\u00e9tico-cl\u00ednica na hidrocefalia"],"prefix":"10.1590","volume":"62","author":[{"given":"Marta","family":"Wey-Vieira","sequence":"first","affiliation":[{"name":"Universidade Cat\u00f3lica de S\u00e3o Paulo, Brasil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Denise Pontes","family":"Cavalcanti","sequence":"additional","affiliation":[{"name":"Universidade Estadual de, Brasil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vera L\u00facia Gil Silva","family":"Lopes","sequence":"additional","affiliation":[{"name":"Universidade Estadual de, Brasil"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"530","reference":[{"year":"2000","series-title":"Estudo sobre hidrocefalias cong\u00eanitas em um hospital universit\u00e1rio brasileiro","author":"Salom\u00e3o M A","key":"ref1"},{"key":"ref2","first-page":"539","article-title":"Congenital hydrocephalus: a review and protocol for perinatal management","volume":"62","author":"Vintzileos AM","year":"1983","journal-title":"Obst Gynecol"},{"key":"ref3","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1007\/s004310050830","article-title":"Congenital hydrocephalus: nosology and guidelines for clinical approach and genetic counseling","volume":"157","author":"Schrander-Srumpel C","year":"1998","journal-title":"Eur J Pediatr","ISSN":"https:\/\/id.crossref.org\/issn\/0340-6199","issn-type":"print"},{"key":"ref4","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1590\/S0021-75572003000200008","article-title":"Incid\u00eancia de hidrocefalia cong\u00eanita e o papel do diagn\u00f3stico pr\u00e9-natal","volume":"79","author":"Cavalcanti DP","year":"2003","journal-title":"J Pediat;"},{"key":"ref5","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1177\/153537020122600402","article-title":"Folate, homocysteine and neural tube defects: an overview","volume":"226","author":"van der Put NMJ","year":"2001","journal-title":"Exp Biol Med (Maywood)"},{"key":"ref6","doi-asserted-by":"crossref","first-page":"202","DOI":"10.1002\/ajmg.1320490208","article-title":"Familial hydrocephalus of prenatal onset","volume":"49","author":"Zlotogora J","year":"1994","journal-title":"Am J Med Genet;"},{"key":"ref7","doi-asserted-by":"crossref","first-page":"429","DOI":"10.1136\/jmg.28.6.429-a","article-title":"X linked complicated spastic paraplegia, MASA syndrome and X linked hydrocephalus owing to congenital stenosis of the aqueduct of Sylvius: variable expression of the same mutation at Xq28","volume":"28","author":"Fryns JP","year":"1991","journal-title":"J Med Genet","ISSN":"https:\/\/id.crossref.org\/issn\/0022-2593","issn-type":"print"},{"year":"2001","series-title":"Online Mendelian Inheritance in man (TM)","key":"ref8"},{"key":"ref9","first-page":"236","article-title":"Genetic heterogeneity in X-linked hydrocephalus: linkage to markers within Xq27.3","volume":"54","author":"Strain L","year":"1994","journal-title":"Am J Med Genet","ISSN":"https:\/\/id.crossref.org\/issn\/0148-7299","issn-type":"print"},{"key":"ref10","doi-asserted-by":"crossref","first-page":"399","DOI":"10.1136\/jmg.35.5.399","article-title":"Genotype-phenotype correlation in L1 associated diseases","volume":"35","author":"Fransen E","year":"1998","journal-title":"J Med Genet","ISSN":"https:\/\/id.crossref.org\/issn\/0022-2593","issn-type":"print"},{"key":"ref11","doi-asserted-by":"crossref","first-page":"402","DOI":"10.1002\/ajmg.1320430161","article-title":"MASA syndrome: delineation of the clinical spectrum at prepubertal age","volume":"43","author":"Fryns JP","year":"1992","journal-title":"Am J Med Genet","ISSN":"https:\/\/id.crossref.org\/issn\/0148-7299","issn-type":"print"},{"key":"ref12","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1002\/ajmg.1320410104","article-title":"MASA syndrome: clinical variability and linkage analysis","volume":"41","author":"Rietschel M","year":"1991","journal-title":"Am J Med Genet","ISSN":"https:\/\/id.crossref.org\/issn\/0148-7299","issn-type":"print"},{"key":"ref13","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1111\/j.1399-0004.1994.tb04019.x","article-title":"Clinical aspects of the MASA syndrome in a large family, including expressing females","volume":"45","author":"Kaepernick L","year":"1994","journal-title":"Clin Genet","ISSN":"https:\/\/id.crossref.org\/issn\/0009-9163","issn-type":"print"},{"key":"ref14","first-page":"745","article-title":"Recommendations for standardized human pedigree nomenclature","volume":"56","author":"Bennet RL","year":"1995","journal-title":"Am J Med Genet","ISSN":"https:\/\/id.crossref.org\/issn\/0148-7299","issn-type":"print"},{"key":"ref15","doi-asserted-by":"crossref","first-page":"878","DOI":"10.1016\/S0022-3476(78)80352-7","article-title":"Hyperthermia as a possible teratogenic agent","volume":"92","author":"Smith DW","year":"1978","journal-title":"J Pediatr","ISSN":"https:\/\/id.crossref.org\/issn\/0022-3476","issn-type":"print"},{"key":"ref16","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1002\/tera.1420210114","article-title":"Maternal fever and neural tube defects","volume":"21","author":"Layde PM","year":"1980","journal-title":"Teratology","ISSN":"https:\/\/id.crossref.org\/issn\/0040-3709","issn-type":"print"},{"key":"ref17","doi-asserted-by":"crossref","first-page":"785","DOI":"10.1542\/peds.67.6.785","article-title":"Central nervous system and facial defects associated with maternal hyperthermia at four to 14 weeks' gestation","volume":"67","author":"Pleet H","year":"1981","journal-title":"Pediatrics","ISSN":"https:\/\/id.crossref.org\/issn\/0031-4005","issn-type":"print"},{"key":"ref18","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1016\/0306-9877(88)90092-8","article-title":"Maternal hyperthermia as a cause of idiopathic mental retardation","volume":"27","author":"Upfold JB","year":"1988","journal-title":"Med Hypotheses","ISSN":"https:\/\/id.crossref.org\/issn\/0306-9877","issn-type":"print"},{"key":"ref19","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1111\/j.1552-6909.1997.tb02722.x","article-title":"3rd Urinary tract infection during pregnancy: a risk factor for cerebral palsy?","volume":"26","author":"Polivka BJ","year":"1997","journal-title":"J Obstet Gynecol Neonatal Nurs","ISSN":"https:\/\/id.crossref.org\/issn\/0884-2175","issn-type":"print"},{"key":"ref20","first-page":"113","article-title":"Urinary tract infections during pregnancy and mental retardation and developmental delay","volume":"96","author":"McDermott S","year":"2000","journal-title":"Obstet. Gynecol","ISSN":"https:\/\/id.crossref.org\/issn\/0029-7844","issn-type":"print"},{"key":"ref21","first-page":"433","article-title":"Perinatal risk for mortality and mental retardation associated with maternal urinary-tract infections","volume":"50","author":"McDermott S","year":"2001","journal-title":"J Fam Pract","ISSN":"https:\/\/id.crossref.org\/issn\/0094-3509","issn-type":"print"},{"key":"ref22","first-page":"104","article-title":"The Vater association, vertebral defects, anal atresia, T-E fistula with esophageal atresia, radial and renal dysplasia: a spectrum of associated defects","volume":"82","author":"Quan L","year":"1973","journal-title":"J Pediatr","ISSN":"https:\/\/id.crossref.org\/issn\/0022-3476","issn-type":"print"},{"issue":"119A","key":"ref23","article-title":"VACTERL association with hydrocephalus: a new recessive syndrome?","volume":"35","author":"Sujansky E","year":"1983","journal-title":"Am J Hum Genet","ISSN":"https:\/\/id.crossref.org\/issn\/0002-9297","issn-type":"print"},{"key":"ref24","first-page":"220","article-title":"Association VACTERL et hydrocephalie: une nouvelle entite familiale","volume":"27","author":"Briad ML","year":"1984","journal-title":"Ann. Genet","ISSN":"https:\/\/id.crossref.org\/issn\/0003-3995","issn-type":"print"},{"key":"ref25","doi-asserted-by":"crossref","first-page":"114","DOI":"10.1002\/ajmg.1320470124","article-title":"VACTERL with hydrocephalus: spontaneous chromosome breakage and rearrangement in a family showing apparent sex-linked inheritance","volume":"47","author":"Wang H","year":"1983","journal-title":"Am J Med Genet","ISSN":"https:\/\/id.crossref.org\/issn\/0148-7299","issn-type":"print"},{"key":"ref26","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1002\/(SICI)1096-8628(19960315)62:2<169::AID-AJMG10>3.0.CO;2-M","article-title":"VACTERL with hydrocephalus and branchial arch defects: prenatal, clinical, and autopsy findings in two brothers","volume":"62","author":"Froster UG","year":"1996","journal-title":"Am J Med Genet","ISSN":"https:\/\/id.crossref.org\/issn\/0148-7299","issn-type":"print"},{"key":"ref27","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1002\/(SICI)1096-8628(19980226)76:1<74::AID-AJMG14>3.0.CO;2-M","article-title":"VACTERL with hydrocephalus: family with X-Linked VACTERL-H","volume":"76","author":"Lomas FE","year":"1998","journal-title":"Am J Med Genet","ISSN":"https:\/\/id.crossref.org\/issn\/0148-7299","issn-type":"print"},{"key":"ref28","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1136\/jmg.23.1.23","article-title":"X linked hydrocephalus: a survey of a 20 year period in Victoria, Australia","volume":"23","author":"Halladay J","year":"1986","journal-title":"J Med Genet","ISSN":"https:\/\/id.crossref.org\/issn\/0022-2593","issn-type":"print"},{"key":"ref29","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1016\/S0022-510X(98)00097-5","article-title":"Familial congenital hydrocephalus and aqueduct stenosis with probably autosomal dominant inheritance and variable expression","volume":"158","author":"Verhagen WIM","year":"1998","journal-title":"J Neurol Sci;"},{"key":"ref30","doi-asserted-by":"crossref","first-page":"1859","DOI":"10.1093\/hmg\/3.10.1859","article-title":"A proposed new contiguous gene syndrome on 8q consists of Branchio-Oto-Renal (BOR) syndrome, Duane syndrome, a dominant form of hydrocephalus and trapeze aplasia: implications for the mapping of the BOR gene","volume":"3","author":"Vincent C","year":"1994","journal-title":"Hum Mol Genet","ISSN":"https:\/\/id.crossref.org\/issn\/0964-6906","issn-type":"print"},{"key":"ref31","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1136\/jmg.20.2.122","article-title":"-linked recessive inheritance of agenesis of the corpus callosum","volume":"20","author":"Kaplan P","year":"1983","journal-title":"J Med Genet","ISSN":"https:\/\/id.crossref.org\/issn\/0022-2593","issn-type":"print"},{"key":"ref32","doi-asserted-by":"crossref","first-page":"399","DOI":"10.1136\/jmg.35.5.399","article-title":"Genotype-phenotype correlation in L1 associated diseases","volume":"35","author":"Fransen E","year":"1998","journal-title":"J Med Genet","ISSN":"https:\/\/id.crossref.org\/issn\/0022-2593","issn-type":"print"},{"key":"ref33","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1002\/ajmg.10185","article-title":"Hydrocephalus and intestinal aganglionosis: is L1CAM a modifier gene in Hirschsprung disease?","volume":"108","author":"Parisi MA","year":"2002","journal-title":"Am J Med Genet","ISSN":"https:\/\/id.crossref.org\/issn\/0148-7299","issn-type":"print"}],"container-title":["Arquivos de Neuro-Psiquiatria"],"original-title":[],"link":[{"URL":"http:\/\/www.scielo.br\/pdf\/anp\/v62n2b\/a19v622b.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,12,31]],"date-time":"2024-12-31T18:31:04Z","timestamp":1735669864000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.scielo.br\/scielo.php?script=sci_arttext&pid=S0004-282X2004000300019&lng=pt&tlng=pt"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,6]]},"references-count":33,"journal-issue":{"issue":"2b","published-print":{"date-parts":[[2004,6]]}},"alternative-id":["S0004-282X2004000300019"],"URL":"https:\/\/doi.org\/10.1590\/s0004-282x2004000300019","relation":{},"ISSN":["0004-282X"],"issn-type":[{"type":"electronic","value":"0004-282X"}],"subject":[],"published":{"date-parts":[[2004,6]]}}}