CERVICO-OCULO-ACUSTICUS (WILDERVANCKS) SYNDROME - A CLINICAL VARIANT OF KLIPPEL-FEIL SEQUENCE

A 7 years ageing female child with phenotype of Cervico-Oculo-Acusticus (Wildervanck's) syndrome is presented. In addition to fusion of multiple cervical vertebrae with short neck, abducens nerve palsy and deafness, the child showed severe growth and bone delay, renal abnormalities and slight mental retardation. The presence of such malformations seems to suggest that Wildervanck's syndrome is a clinical variant of Klippel-Feil sequence. Both conditions usually have sporadic occurrence with female prevalence, more consistent for cervico-oculo-acusticus syndrome. The possibility of dominant inheritance has been prospected for both, autosomal for Klippel-Feil, autosomal or X-linked with lethality in hemizygous for Wildervank's one. An environmental etiology, due to a vascular disruption sequence during enbryonic development, has been noted in Klippel-Feil, as in Moebius and Poland sequences. A combination of defects (Klippel-Feil and Moebius) could induce the more complex phenotype observed in Wildervanck's syndrome.