title: Serpentine fibula--polycystic kidney syndrome and Melnick-Needles syndrome are different disorders.
abstract: We report on the third patient with serpentine fibula-polycystic kidney syndrome. Main features in the three reported cases were growth retardation, abnormal face, hirsutism, short neck, bowed forearms and lower legs due to bowed radii and elongated serpentine fibulae, and metatarsus adductus. Two patients including our own were deaf. All were mentally normal, all were female and sporadic. In addition, we report on a girl with Melnick-Needles syndrome and illustrate the similarities and differences between these syndromes.
authors.affiliation: Institute of Human Genetics, University of Düsseldorf, Germany.
authors.forename: F
authors.initials: F
authors.lastname: Majewski
authors.forename: H
authors.initials: H
authors.lastname: Enders
authors.forename: M B
authors.initials: MB
authors.lastname: Ranke
authors.forename: T
authors.initials: T
authors.lastname: Voit
mesh_terms: D002648:Child; D003937:Diagnosis, Differential; D005260:Female; D005360:Fibula / Q000002:abnormalities* / Q000000981:diagnostic imaging; D006801:Humans; D010009:Osteochondrodysplasias / Q000175:diagnosis* / Q000000981:diagnostic imaging; D007690:Polycystic Kidney Diseases / Q000150:complications*; D011859:Radiography; D013577:Syndrome