Article ID Journal Published Year Pages File Type
5904926 European Journal of Medical Genetics 2011 4 Pages PDF
Abstract

Sparse scalp hair, a peculiar shape of the nose, and cone-shaped epiphyses of the phalanges are the hallmarks of the tricho-rhino-phalangeal syndromes (TRPS). Short stature, hip dysplasia, and malformations of inner organs including mitral valve prolpase have also often been described for these conditions. Here, we described a 64-year-old woman with molecularly proved TRPS I and several atypical late-onset rheumatologic and neurological symptoms.

Related Topics
Life Sciences Biochemistry, Genetics and Molecular Biology Genetics
Authors
, , , , , , , , , , ,