[source]
pmid = PMID:29037160
title = Homozygous, and compound heterozygous mutation in 3 Turkish family with Jervell and Lange-Nielsen syndrome: case reports
[diagnosis]
disease_id = OMIM:220400
disease_label = Jervell and Lange-Nielsen syndrome
[text]
Case 3 (family III)
A 5 year old male child (Fig. 2c; IV-5) was examined due to pre-diagnosis of long QT syndrome. He was a second child of a first-degree consanguineous marriage.
He displayed symptoms of tachypnea and postnatal bradycardia and was transferred to another hospital on the second day of his birth.
In the physical examination, bilateral hearing loss was determined. His resting 12 lead ECG exhibited a prolongation in
QTc distance of 520 ms (Fig. 2d). The ECG of both parents demonstrated normal ECG readings at rest. No syncope was detected on his follow-up period.