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

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

Autor Macena Sobreira, Nara Lygia Autor UNIFESP Google Scholar
Cernach, Mirlene Cecilia S. P. Autor UNIFESP Google Scholar
Brunoni, Decio Autor UNIFESP Google Scholar
Alvarez Perez, Ana Beatriz Autor UNIFESP Google Scholar
Instituição Universidade Federal de São Paulo (UNIFESP)
Resumo Nonsyndromic 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.
Assunto oligodactyly
syndactyly
Kabuki syndrome
Idioma Inglês
Data 2008-07-01
Publicado em American Journal of Medical Genetics Part A. Hoboken: Wiley-liss, v. 146A, n. 13, p. 1725-1728, 2008.
ISSN 1552-4825 (Sherpa/Romeo, fator de impacto)
Editor Wiley-Blackwell
Extensão 1725-1728
Fonte http://dx.doi.org/10.1002/ajmg.a.32377
Direito de acesso Acesso restrito
Tipo Artigo
Web of Science WOS:000257549400012
URI http://repositorio.unifesp.br/handle/11600/30752

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