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.
|Translated title of the contribution||Alagille's syndrome associated with proximal radio-ulnar synostosis: Clinical case and a literature review|
|Number of pages||5|
|Journal||Revista Espanola de Cirugia Ortopedica y Traumatologia|
|State||Published - 2016|
All Science Journal Classification (ASJC) codes
- Orthopedics and Sports Medicine