Program Nr: 589 for the 2006 ASHG Annual Meeting

KABUKI SYNDROME WITH CENANI-LENZ SYNDACTYLY: CASE REPORT. A.B.A. Perez, N.L.M. Sobreira, M.C.P. Cernach, D. Brunoni. Centro de Genetica Medica, Unifesp - EPM, Sao Paulo, São Paulo, Brazil.
   Cenani-Lenz Syndactyly (CLS) is characterized by phalanges with a disorganized aspect, syndactyly and oligodactyly, metacarpal and carpal fusion, radioulnar synostosis, mesomelic shortening of the upper members, luxation of the radial head and feet with a variety of anomalies. There are no defined craniofacial characteristics. Drohm et al.(1976), Verma et al.(1976) and Seven et al.(2000) described large ears. Temtamy et al.(2003) described a broad forehead, downward slanting palpebral fissures, hypertelorism, small and prominent philtrum, malar hypoplasia and curved upper lip, long palpebral fissures, discrete eversion of the lower lid, and high-arched palate. Elliott (2004) described a boy with non-classical Cenani-Lenz syndactyly, with syndactyly and oligodactyly of the fingers and a phenotype consistent with Kabuki Syndrome. The pattern of inheritance is autosomal recessive. Kabuki Syndrome (KS) has a sporadic occurrence and presents limb alterations such as: persistence of pads, brachydactyly, short medial phalanx of the fifth finger, cutaneous syndactyly of the toes and polydactyly. Wessels et al. (2000) evaluated 300 patients with KS, 71% of which had dental anomalies. These are not common in patients with CLS. We report the case of a 6-year-old female patient, the fifth child of a non-consanguineous and healthy couple. On physical examination, the findings were: downslanting palpebral fissures, eversion of the lower lids, long eyelashes, sparse medially flared eyebrows, depressed nasal root, anteverted nostrils, long philtrum, thin upper lip, persistence of pads, spatulated fingers, clinodactyly of fifth fingers. The patients feet presented bilateral syndactyly of the first and second and of the fourth and fifth toes and hypoplasia of the third toe. The patient presents recurrent infections and normal NPMD. Karyotype: 46,XX. The genes causing CLS and KS are unknown and their elucidation may determine to which extent they are genetically related. Meanwhile, a careful evaluation of the craniofacial characteristics of patients with CLS is necessary, in order to correctly characterize this association.