Complex toe syndactyly with characteristic facial phenotype: A new syndrome?

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dc.contributor.authorMacena Sobreira, Nara Lygia [UNIFESP]
dc.contributor.authorCernach, Mirlene Cecilia S. P. [UNIFESP]
dc.contributor.authorBrunoni, Decio [UNIFESP]
dc.contributor.authorAlvarez Perez, Ana Beatriz [UNIFESP]
dc.contributor.institutionUniversidade Federal de São Paulo (UNIFESP)
dc.date.accessioned2016-01-24T13:51:30Z
dc.date.available2016-01-24T13:51:30Z
dc.date.issued2008-07-01
dc.description.abstractNonsyndromic syndactyly is a common, heterogeneous hereditary condition of webbed fingers and toes that can be cutaneous or bony, unilateral or bilateral. We describe a patient with complex toe syndactyly and oligodactyly, some interesting skeletal hand findings and atypical facial features without other case like this described before. Cenani-Lenz syndrome (CLS) is a rare disorder with total syndactyly and irregular synostosis of carpal, metacarpal and phalanges, it may involve ulna and radius and digital rays may be absent, some of these were described with atypical facial features and one patient had renal hypoplasia and vertebral anomalities but our patient does not have the oligodactyly or syndactyly of the hands that is consistently present in all patients with CLS. the atypical facial features of our patient resemble Kabuki syndrome but oligodactyly and complex Syndactyly have not been described in Kabuki syndrome and this patient has normal intelligence, and extreme eyelid defect (resembling ablepharon). Therefore, for our patient, we suggested to treat in a new condition of limb anomalies and atypical face. (C) 2008 Wiley-Liss, Inc.en
dc.description.affiliationUniversidade Federal de São Paulo, Ctr Genet Med, BR-04026040 São Paulo, Brazil
dc.description.affiliationUnifespUniversidade Federal de São Paulo, Ctr Genet Med, BR-04026040 São Paulo, Brazil
dc.description.sourceWeb of Science
dc.format.extent1725-1728
dc.identifierhttp://dx.doi.org/10.1002/ajmg.a.32377
dc.identifier.citationAmerican Journal of Medical Genetics Part A. Hoboken: Wiley-liss, v. 146A, n. 13, p. 1725-1728, 2008.
dc.identifier.doi10.1002/ajmg.a.32377
dc.identifier.issn1552-4825
dc.identifier.urihttp://repositorio.unifesp.br/handle/11600/30752
dc.identifier.wosWOS:000257549400012
dc.language.isoeng
dc.publisherWiley-Blackwell
dc.relation.ispartofAmerican Journal of Medical Genetics Part A
dc.rightsinfo:eu-repo/semantics/restrictedAccess
dc.rights.licensehttp://olabout.wiley.com/WileyCDA/Section/id-406071.html
dc.subjectoligodactylyen
dc.subjectsyndactylyen
dc.subjectKabuki syndromeen
dc.titleComplex toe syndactyly with characteristic facial phenotype: A new syndrome?en
dc.typeinfo:eu-repo/semantics/article
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