Infant male with TARP syndrome: Review of clinical features, prognosis, and commonalities with previously reported patients. Issue 12 (18th November 2018)

• Record Type: Journal Article
• Authors: Kaeppler, Kathrine E.; Stetson, Raymond C.; Lanpher, Brendan C.; Collura, Christopher A.
• Is Part Of: American journal of medical genetics. Volume 176:Issue 12(2018)
• Page Start: 2911
• Page End: 2914
• Publication Date: 2018-11-18
• Subjects: chromosomes, human, X -- clubfoot -- heart defects, congenital -- Pierre Robin syndrome; Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.40645
• Languages: English
• ISSNs: 1552-4825

Abstract

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.