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MACROSOMIA, OBESITY, MACROCEPHALY AND OCULAR ABNORMALITIES (MOMO SYNDROME) IN 2 UNRELATED PATIENTS - DELINEATION OF A NEWLY RECOGNIZED OVERGROWTH SYNDROME

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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.contributor.institutionUniversidade de São Paulo (USP)
dc.contributor.institutionUniversidade Estadual Paulista (Unesp)
dc.contributor.institutionHOSP SAO CRISTOVAO
dc.date.accessioned2014-05-20T15:28:20Z
dc.date.available2014-05-20T15:28:20Z
dc.date.issued1993-06-15
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.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.format.extent555-558
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.doi10.1002/ajmg.1320460519
dc.identifier.issn0148-7299
dc.identifier.urihttp://hdl.handle.net/11449/38153
dc.identifier.wosWOS:A1993LF98100018
dc.language.isoeng
dc.publisherWiley-Blackwell
dc.relation.ispartofAmerican Journal of Medical Genetics
dc.rights.accessRightsAcesso restrito
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.typeArtigo
dcterms.licensehttp://olabout.wiley.com/WileyCDA/Section/id-406071.html
dcterms.rightsHolderWiley-Blackwell
dspace.entity.typePublication
unesp.campusUniversidade Estadual Paulista (Unesp), Instituto de Biociências, Botucatupt
unesp.departmentGenética - IBBpt

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Botucatu - IBB - Instituto de Biociências