Síndrome tricorrinofalángico tipo I y laxitud articular

Se comenta el diagnóstico diferencial de todos aquellos procesos que cursan con anomalías faciales, hipotriquia y epífisis en cono, poniendo especial énfasis en la enfermedad de Thiemann para evitar que pacientes portadores de malformaciones congénitas óseas sean diagnosticados de artritis reumatoide.

We report a case of the trichorhinophalangeal (TRP) syndrome associated with joint hypermobility syndrome in a patient of 18-year-old. The TRP syndrome is inherited as an autosomal dominant trait and is characterized clinically by growth retardation, craniofacial abnormalities, severe brachydactyly and sparse hair. We reviewed the similarities between TRP syndrome and Thiemann's disease and congenital epiphyses abnormalities.