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

详细信息    查看全文

• 作者：J. Couceiro^a ; ^{couceirox@gmail.com" class="auth_mail" title="E-mail the corresponding author} ; B. Gó ; mez^b ; M. Sanmartí ; n^a
• 关键词：Alagille ; Radioulnar synostosis ; Treatment
• 刊名：Revista Española de Cirugía Ortopédica y Traumatología
• 出版年：2016
• 出版时间：January-February 2016
• 年：2016
• 卷：60
• 期：1
• 页码：81-85
• 全文大小：968 K

文摘

Alagille's syndrome is an infrequent genetic condition with autosomal inheritance and variable expression. The complete form exhibits five 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 radio-ulnar synostosis. To the best of our knowledge this is the second reported case of this association.