1.
Pediatr Int
; 62(7): 869-870, 2020 07.
Article
in English
| MEDLINE
| ID: mdl-32578295
Subject(s)
Anti-Arrhythmia Agents/therapeutic use , Aprindine/therapeutic use , Tachycardia, Ectopic Atrial/drug therapy , Bradycardia/complications , Bradycardia/diagnosis , Bradycardia/drug therapy , Electrocardiography/methods , Heart Rate , Humans , Infant, Newborn , Male , Tachycardia, Ectopic Atrial/complications , Tachycardia, Ectopic Atrial/diagnosis , Treatment Outcome
2.
Hum Genome Var
; 7: 19, 2020.
Article
in English
| MEDLINE
| ID: mdl-32528716
ABSTRACT
We report a patient with developmental delay, extremely short stature, small hands, dysmorphic facial features, hearing loss, and epilepsy carrying a de novo 2.76-Mb deletion of 2q36.3q37.1, including TRIP12 and NPPC. TRIP12 haploinsufficiency causes developmental delay with isolated dysmorphic facial features, whereas NPPC haploinsufficiency causes short stature and small hands. This is the first report of a unique phenotype, which is secondary to a microdeletion encompassing TRIP12 and NPPC.