TERMINAL DELETION-1Q43 IN A NEWBORN WITH HYDROCEPHALUS

ESCOLA PAULISTA MED,DISCIPLINA GENET,CAIXA POSTAL 20-363,BR-04023 SAO PAULO,SP,BRAZILESCOLA PAULISTA MED,DISCIPLINA GENET,CAIXA POSTAL 20-363,BR-04023 SAO PAULO,SP,BRAZILWeb of Scienc

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

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.Universidade Federal de São Paulo, Ctr Genet Med, BR-04026040 São Paulo, BrazilUniversidade Federal de São Paulo, Ctr Genet Med, BR-04026040 São Paulo, BrazilWeb of Scienc