title: [Familial nail patella-syndrome].
abstract: Nail patella-syndrome is a rare hereditary (autosomal dominant) disorder resulting from a heterogenous loss of function in the LMXB1 gene on chromosome 9q34. It is associated with multiple deformities. Patients have a characteristic tetrad of pathologic symptoms including fingernail dysplasia, hypoplastic or absence patella, radial head dislocation, iliac horns and in some cases nephropathy and ophtalmo-logical findings (glaucoma). In this study four affected members in one family are presented. All of the familly members presented absence or hypoplastic patella and fingernails dysplasia. There were not indications for surgical treatment dislocated radial heads or subluxated dysplastic patella. Genetic counseling is recomended because nail patella syndrome is an autosomal dominant disease.
authors.affiliation: Klinika Chirurgii Urazowej Narzadu Ruchu, Centrum Medycznego Kształcenia Podyplomowego w Warszawie.
authors.forename: Jan
authors.initials: J
authors.lastname: Orłowski
mesh_terms: D000328:Adult; D002648:Child; D005192:Family Health; D005260:Female; D006801:Humans; D007719:Knee Joint / Q000000981:diagnostic imaging* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D009261:Nail-Patella Syndrome / Q000000981:diagnostic imaging* / Q000235:genetics* / Q000473:pathology; D009262:Nails / Q000000981:diagnostic imaging* / Q000473:pathology; D011859:Radiography