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

Nara Lygia Macena Sobreira, Mirlene Cecilia S.P. Cernach, Decio Brunoni, Ana Beatriz Alvarez Perez

Research output: Contribution to journalArticle

Abstract

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 anomalies 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.

Original languageEnglish (US)
Pages (from-to)1725-1728
Number of pages4
JournalAmerican Journal of Medical Genetics, Part A
Volume146
Issue number13
DOIs
StatePublished - Jul 1 2008

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Keywords

  • Kabuki syndrome
  • Oligodactyly
  • Syndactyly

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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