Branchial arch defects
Overview
Branchial arch syndrome X-linked: A rare syndrome characterized by a range of abnormalities such as facial anomalies, impaired hearing, short stature, learning disability and branchial arch defects.
Symptoms
* Absent eyebrows * Reduced eyebrows * Epicanthic folds * Impaired hearing * Downslanted eye slits
Causes
The earpits-deafness syndrome is a rare autosomal dominant condition. This report documents 4 families and describes the characteristic radiological features of both the inner and the middle-ear lesions. Prospects for surgical intervention are discussed.
Diagnosis
The phrase "signs of Branchial arch syndrome X-linked" should, strictly speaking, refer only to those signs and symptoms of Branchial arch syndrome X-linked that are not readily apparent to the patient.