Nievergelt-Pearlman syndrome with impairment of hearing. Report of three cases in a family.
Three cases of the Nievergelt-Pearlman syndrome occurring in a family are presented. In addition to the major features of the syndrome (symphalangism, carpal fusion, atypical club foot with massive tarsal fusion, and congenital dislocation of the head of the radius), all three patients exhibited conductive deafness, which had not been recorded in previous reports. The clinical findings strongly suggested that the loss of hearing was due to fusion of the ossicles of the middle ear.
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000235:genetics*; D000293:Adolescent; D001844:Bone Conduction; D003638:Deafness / Q000235:genetics*; D004429:Ear Ossicles / Q000002:abnormalities; D005260:Female; D005385:Fingers / Q000002:abnormalities; D006320:Hearing Tests; D006801:Humans; D017880:Limb Deformities, Congenital; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D011859:Radiography; D013577:Syndrome; D014034:Toes / Q000002:abnormalities