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

Nenhuma Miniatura disponível
Data
2008-07-01
Autores
Macena Sobreira, Nara Lygia [UNIFESP]
Cernach, Mirlene Cecilia S. P. [UNIFESP]
Brunoni, Decio [UNIFESP]
Alvarez Perez, Ana Beatriz [UNIFESP]
Orientadores
Tipo
Artigo
Título da Revista
ISSN da Revista
Título de Volume
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.
Descrição
Citação
American Journal of Medical Genetics Part A. Hoboken: Wiley-liss, v. 146A, n. 13, p. 1725-1728, 2008.
Coleções