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Please use this identifier to cite or link to this item: http://acervodigital.unesp.br/handle/11449/38153
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dc.contributor.authorMorettiferreira, D.-
dc.contributor.authorKoiffmann, C. P.-
dc.contributor.authorListik, M.-
dc.contributor.authorSetian, N.-
dc.contributor.authorWajntal, A.-
dc.date.accessioned2014-05-20T15:28:20Z-
dc.date.accessioned2016-10-25T18:03:20Z-
dc.date.available2014-05-20T15:28:20Z-
dc.date.available2016-10-25T18:03:20Z-
dc.date.issued1993-06-15-
dc.identifierhttp://dx.doi.org/10.1002/ajmg.1320460519-
dc.identifier.citationAmerican Journal of Medical Genetics. New York: Wiley-liss, v. 46, n. 5, p. 555-558, 1993.-
dc.identifier.issn0148-7299-
dc.identifier.urihttp://hdl.handle.net/11449/38153-
dc.identifier.urihttp://acervodigital.unesp.br/handle/11449/38153-
dc.description.abstractWe describe 2 unrelated patients, a boy and a girl, with an overgrowth syndrome and the following common characteristics: macrocrania, obesity, ocular abnormalities (retinal coloboma and nystagmus), downward slant of palpebral fissures, mental retardation, and delayed bone maturation. Both cases are of sporadic occurrence with no consanguinity between the parents. We suggest that this syndrome is due to a new autosomal dominant mutation and propose to designate it with the acronym of ''MOMO syndrome'' (Macrosomia, Obesity, Macrocrania, Ocular anomalities).en
dc.format.extent555-558-
dc.language.isoeng-
dc.publisherWiley-Blackwell-
dc.sourceWeb of Science-
dc.subjectOVERGROWTHpt
dc.subjectOBESITYpt
dc.subjectMACROCRANIApt
dc.subjectAUTOSOMIC DOMINANTpt
dc.subjectMENTAL RETARDATIONpt
dc.subjectRETINAL COLOBOMApt
dc.titleMACROSOMIA, OBESITY, MACROCEPHALY AND OCULAR ABNORMALITIES (MOMO SYNDROME) IN 2 UNRELATED PATIENTS - DELINEATION OF A NEWLY RECOGNIZED OVERGROWTH SYNDROMEen
dc.typeoutro-
dc.contributor.institutionUniversidade de São Paulo (USP)-
dc.contributor.institutionUniversidade Estadual Paulista (UNESP)-
dc.contributor.institutionHOSP SAO CRISTOVAO-
dc.description.affiliationUNIV SAO PAULO,CHILDRENS HOSP,DEPT BIOL,PEDIAT ENDOCRINOL UNIT,SAO PAULO,BRAZIL-
dc.description.affiliationSTATE UNIV SAO PAULO,DEPT GENET,GENET COUNSELING SERV,BOTUCATU,SP,BRAZIL-
dc.description.affiliationHOSP SAO CRISTOVAO,NEUROPEDIAT SERV,SAO PAULO,BRAZIL-
dc.description.affiliationUnespSTATE UNIV SAO PAULO,DEPT GENET,GENET COUNSELING SERV,BOTUCATU,SP,BRAZIL-
dc.identifier.doi10.1002/ajmg.1320460519-
dc.identifier.wosWOS:A1993LF98100018-
dc.rights.accessRightsAcesso restrito-
dc.relation.ispartofAmerican Journal of Medical Genetics-
Appears in Collections:Artigos, TCCs, Teses e Dissertações da Unesp

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