Growth Retardation, Deafness, Femoral Epiphyseal Dysplasia, And Lacrimal Duct Obstruction

Clinical Features

Chitty et al. (1996) described 2 brothers, born of first-cousin parents, with retarded growth, moderate mental retardation, sensorineural deafness, bilateral obstruction of lacrimal ducts, inguinal and umbilical hernias, and femoral epiphyseal dysplasia, predominantly on the left (capital femoral epiphysis was small and fragmented in one brother and virtually absent in the other). Chitty et al. (1996) proposed that this complex is a distinct syndrome with autosomal recessive inheritance. Three brothers described by Pfeiffer et al. (1973) had a similar complex of abnormalities (see 226950), but their femoral defects were symmetrical, they had myopia, and they did not have lacrimal duct obstruction or hernias.