Infant male with TARP syndrome: Review of clinical features, prognosis, and commonalities with previously reported patients

Kathrine E. Kaeppler, Raymond C. Stetson, Brendan Lanpher, Christopher A. Collura

Research output: Contribution to journalArticle

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.

Original languageEnglish (US)
Pages (from-to)2911-2914
Number of pages4
JournalAmerican Journal of Medical Genetics, Part A
Volume176
Issue number12
DOIs
StatePublished - Dec 1 2018

Fingerprint

Clubfoot
Superior Vena Cava
Atrial Heart Septal Defects
Pierre Robin Syndrome
Hydronephrosis
Hypertrophic Cardiomyopathy
Genetic Testing
Patient Care
Extremities
Central Nervous System
Phenotype
Kidney
TARP syndrome
TARP

Keywords

  • chromosomes, human, X
  • clubfoot
  • heart defects, congenital
  • Pierre Robin syndrome

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Infant male with TARP syndrome : Review of clinical features, prognosis, and commonalities with previously reported patients. / Kaeppler, Kathrine E.; Stetson, Raymond C.; Lanpher, Brendan; Collura, Christopher A.

In: American Journal of Medical Genetics, Part A, Vol. 176, No. 12, 01.12.2018, p. 2911-2914.

Research output: Contribution to journalArticle

@article{a9b05ce005224d8d96ab80f191bb1984,
title = "Infant male with TARP syndrome: Review of clinical features, prognosis, and commonalities with previously reported patients",
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.",
keywords = "chromosomes, human, X, clubfoot, heart defects, congenital, Pierre Robin syndrome",
author = "Kaeppler, {Kathrine E.} and Stetson, {Raymond C.} and Brendan Lanpher and Collura, {Christopher A.}",
year = "2018",
month = "12",
day = "1",
doi = "10.1002/ajmg.a.40645",
language = "English (US)",
volume = "176",
pages = "2911--2914",
journal = "American Journal of Medical Genetics, Part A",
issn = "1552-4825",
publisher = "Wiley-Liss Inc.",
number = "12",

}

TY - JOUR

T1 - Infant male with TARP syndrome

T2 - Review of clinical features, prognosis, and commonalities with previously reported patients

AU - Kaeppler, Kathrine E.

AU - Stetson, Raymond C.

AU - Lanpher, Brendan

AU - Collura, Christopher A.

PY - 2018/12/1

Y1 - 2018/12/1

N2 - 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.

AB - 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.

KW - chromosomes, human, X

KW - clubfoot

KW - heart defects, congenital

KW - Pierre Robin syndrome

UR - http://www.scopus.com/inward/record.url?scp=85056785868&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85056785868&partnerID=8YFLogxK

U2 - 10.1002/ajmg.a.40645

DO - 10.1002/ajmg.a.40645

M3 - Article

C2 - 30450804

AN - SCOPUS:85056785868

VL - 176

SP - 2911

EP - 2914

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

SN - 1552-4825

IS - 12

ER -