Infant Male With TARP Syndrome: Review of Clinical Features, Prognosis, and Commonalities With Previously Reported Patients
Document Type
Article
Publication Title
American Journal of Medical Genetics - Part A
Abstract
TARP syndrome (talipes equinovarus, atrial septal defect, Robin sequence, and persistent left superior vena cava) is a rare X-linked condition. As more patients are identified through genetic testing, it is increasingly clear that the original TARP acronym does not fully describe the complete phenotypic spectrum of this syndrome. The presented patient had genetically confirmed TARP syndrome and demonstrated new findings of hydronephrosis and hemodynamically significant hypertrophic obstructive cardiomyopathy. The patient also had physical findings common with previously reported individuals with TARP syndrome in the literature but not described by the TARP acronym. These features include central nervous system dysfunction, renal abnormalities, cardiac lesions other than atrial septal defect or persistent left superior vena cava, and distal limb defects other than talipes equinovarus. By adding to the known spectrum of the TARP phenotype, this report will aid clinicians as they care for patients with this rare condition.
DOI
10.1002/ajmg.a.40645
Publication Date
12-2018
Keywords
Pierre Robin syndrome, X chromosomes clubfoot, congenital heart defects
ISSN
1552-4833
Recommended Citation
Kaeppler KE, Stetson RC, Lanpher BC, Collura CA. Infant Male With TARP Syndrome: Review of Clinical Features, Prognosis, and Commonalities With Previously Reported Patients. American Journal of Medical Genetics - Part A. 2018; 176(12). doi: 10.1002/ajmg.a.40645.
