Produção Nacional
Hand and foot postaxial polydactyly: Two different traits
1997; Wiley; Volume: 73; Issue: 1 Linguagem: Inglês
10.1002/(sici)1096-8628(19971128)73
ISSN1096-8628
AutoresEduardo E. Castilla, Maria da Graça Dutra, Regina Lugarinho da Fonseca, Joaquín E. Paz,
Tópico(s)Hedgehog Signaling Pathway Studies
ResumoAmerican Journal of Medical GeneticsVolume 73, Issue 1 p. 48-54 Research Article Hand and foot postaxial polydactyly: Two different traits Eduardo E. Castilla, Corresponding Author Eduardo E. Castilla ECLAMC (Latin-American Collaborative Study of Congenital Malformations, WHO Collaborating Centre for the Prevention of Birth Defects) at Instituto Oswaldo Cruz, Fundação Oswaldo Cruz, Rio de Janeiro, Brazil ECLAMC at Centro de Educación Médica e Investigaciones Clínicas, Buenos Aires, ArgentinaEduardo E. Castilla, Departamento de Genética, FIOCRUZ, CP 926, Rio de Janeiro 20001-970, Brazil.Search for more papers by this authorMaria da Graça Dutra, Maria da Graça Dutra ECLAMC (Latin-American Collaborative Study of Congenital Malformations, WHO Collaborating Centre for the Prevention of Birth Defects) at Instituto Oswaldo Cruz, Fundação Oswaldo Cruz, Rio de Janeiro, BrazilSearch for more papers by this authorRegina Lugarinho da Fonseca, Regina Lugarinho da Fonseca ECLAMC (Latin-American Collaborative Study of Congenital Malformations, WHO Collaborating Centre for the Prevention of Birth Defects) at Instituto Oswaldo Cruz, Fundação Oswaldo Cruz, Rio de Janeiro, BrazilSearch for more papers by this authorJoaquín E. Paz, Joaquín E. Paz ECLAMC at Centro de Educación Médica e Investigaciones Clínicas, Buenos Aires, Argentina ECLAMC at Instituto Multidisciplinario de Biologia Celular, La Plata, ArgentinaSearch for more papers by this author Eduardo E. Castilla, Corresponding Author Eduardo E. Castilla ECLAMC (Latin-American Collaborative Study of Congenital Malformations, WHO Collaborating Centre for the Prevention of Birth Defects) at Instituto Oswaldo Cruz, Fundação Oswaldo Cruz, Rio de Janeiro, Brazil ECLAMC at Centro de Educación Médica e Investigaciones Clínicas, Buenos Aires, ArgentinaEduardo E. Castilla, Departamento de Genética, FIOCRUZ, CP 926, Rio de Janeiro 20001-970, Brazil.Search for more papers by this authorMaria da Graça Dutra, Maria da Graça Dutra ECLAMC (Latin-American Collaborative Study of Congenital Malformations, WHO Collaborating Centre for the Prevention of Birth Defects) at Instituto Oswaldo Cruz, Fundação Oswaldo Cruz, Rio de Janeiro, BrazilSearch for more papers by this authorRegina Lugarinho da Fonseca, Regina Lugarinho da Fonseca ECLAMC (Latin-American Collaborative Study of Congenital Malformations, WHO Collaborating Centre for the Prevention of Birth Defects) at Instituto Oswaldo Cruz, Fundação Oswaldo Cruz, Rio de Janeiro, BrazilSearch for more papers by this authorJoaquín E. Paz, Joaquín E. Paz ECLAMC at Centro de Educación Médica e Investigaciones Clínicas, Buenos Aires, Argentina ECLAMC at Instituto Multidisciplinario de Biologia Celular, La Plata, ArgentinaSearch for more papers by this author First published: 06 December 1998 https://doi.org/10.1002/(SICI)1096-8628(19971128)73:1 3.0.CO;2-RCitations: 33AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Abstract The aim of this work was to test whether postaxial hexadactyly had different clinical and epidemiological characteristics depending on hand or foot involvement. In the period 1967–1993, the Latin-American Collaborative Study of Congenital Malformations (ECLAMC) enrolled 1,582,289 births, and 2,271 cases with isolated (nonsyndromal) postaxial polydactyly (5th-digit hexadactyly). The prevalence was 14.3/10,000 births. Postaxial polydactyly (PP) of the hand (HPP) was the most frequent type (N:1,733; 76.3%; prevalence: 11.0/10,000), followed by foot PP (FPP=N:351; 15.5%; prevalence: 2.2), and hand and foot PP (BPP=N:187; 8.2%; prevalence: 1.2). Unlike HPP (55.0% bilateral; 77.2% left), FPP was less frequently bilateral (19.4%), with lower preference for the left side (55.5%). As expected, HPP was associated with African Black ethnicity, male sex, twinning, low maternal education, parental consanguinity, and there was frequent recurrence in 1st-degree relatives. Conversely, FPP was associated with Amerindian racial background, parental subfertility, and bleeding in the 1st trimester of pregnancy. BPP displayed the highest frequency of associated congenital defects (23.4%, vs HPP:6.6%, FPP:15.4%). In its isolated form, BPP resembled HPP more than FPP with respect to left preference (90.9%), familial recurrence (11.0% of 1st degree relatives), and low maternal education. Although male sex preference and high frequency of twinning was observed in the 3 PP subtypes, statistical significance was present only in HPP. None of the 3 PP subtypes showed abnormal values for perinatal mortality, birth weight, length of gestation, parental ages, or parity. A logistic regression analysis showed Black race only to be associated with HPP, parental subfertility with FPP, parental consanguinity with BPP, and non-Black race with both FPP and BPP. The data presented here are the first indication that HPP and FPP are 2 different entities, with a larger genetic component in HPP than in FPP. Am. J. Med. Genet. 73:48–54, 1997. © 1997 Wiley-Liss, Inc. Citing Literature Volume73, Issue128 November 1997Pages 48-54 RelatedInformation
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