[Alagille's syndrome associated with proximal radio-ulnar synostosis: Clinical case and a literature review]

Rev Esp Cir Ortop Traumatol. Jan-Feb 2016;60(1):81-5. doi: 10.1016/j.recot.2014.05.007. Epub 2014 Jul 16.
[Article in Spanish]

Abstract

Alagille's syndrome is an infrequent genetic condition with autosomal inheritance and variable expression. The complete form exhibits 5 clinical signs, chronic intrahepatic cholestasis, characteristic facies, cardiovascular anomalies, posterior embryotoxon, and vertebral defects. If only 3 or 4 of these are present the case is considered as an incomplete form. The association of Alagille's syndrome with radio-ulnar synostosis is extremely rare. There is only one case described in the indexed literature. A case is presented of Alagille's syndrome with bilateral proximal radioulnar synostosis. To the best of our knowledge this is the second reported case of this association.

Keywords: Alagille; Radioulnar synostosis; Sinostosis radiocubital; Tratamiento; Treatment.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Alagille Syndrome / diagnosis*
  • Child, Preschool
  • Humans
  • Male
  • Radius / abnormalities*
  • Synostosis / diagnosis*
  • Ulna / abnormalities*

Supplementary concepts

  • Radioulnar Synostosis