PMID: 16521531Mar 9, 2006Paper

Familial nail patella-syndrome

Chirurgia narzadów ruchu i ortopedia polska
Jan Orłowski

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.

Related Concepts

Related Feeds

Blood And Marrow Transplantation

The use of hematopoietic stem cell transplantation or blood and marrow transplantation (bmt) is on the increase worldwide. BMT is used to replace damaged or destroyed bone marrow with healthy bone marrow stem cells. Here is the latest research on bone and marrow transplantation.

Aneurysm

Aneurysms are outward distensions or bulges that occurs in a weakened wall of blood vessels. Discover the latest research on aneurysms here.