Laryngo-tracheal stenosis in a woman with ablepharon macrostomia syndrome
Abstract Background Ablepharon macrostomia syndrome (AMS) is a rare congenital malformation disorder caused by the autosomal-dominant mutations in gene TWIST2. Patients affected by the disease present abnormalities in ectoderm-derived structures mainly consisting in major facial dysmorphic features...
Main Authors: | , , |
---|---|
Format: | Article |
Language: | English |
Published: |
BMC
2019-08-01
|
Series: | BMC Pulmonary Medicine |
Subjects: | |
Online Access: | http://link.springer.com/article/10.1186/s12890-019-0921-8 |