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Prominent veins on trunk

MedGen UID:
870425
Concept ID:
C4024871
Finding
HPO: HP:0007457

Definition

Prominent thoracic and abdominal veins. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVProminent veins on trunk

Conditions with this feature

White forelock with malformations
MedGen UID:
376362
Concept ID:
C1848463
Disease or Syndrome
A multiple congenital anomalies syndrome with characteristics of poliosis, distinct facial features (epicanthal folds, hypertelorism, posterior rotation of ears, prominent philtrum, high-arched palate) and congenital anomalies/malformations of the eye (blue sclera), cardiopulmonary (atrial septal defect, prominent thoracic and abdominal veins) and skeletal (clinodactyly, syndactyly of the fingers and second and third toes) systems. There have been no further descriptions in the literature since 1980.

Professional guidelines

PubMed

Alhaj AAM, Ahmed ES, Hassan A, Fahal AH
PLoS Negl Trop Dis 2024 May;18(5):e0011841. Epub 2024 May 10 doi: 10.1371/journal.pntd.0011841. PMID: 38728359Free PMC Article

Recent clinical studies

Diagnosis

Biesecker LG, Edwards M, O'Donnell S, Doherty P, MacDougall T, Tith K, Kazakin J, Schwartz B
Cold Spring Harb Mol Case Stud 2020 Feb;6(1) Epub 2020 Feb 3 doi: 10.1101/mcs.a004549. PMID: 32014856Free PMC Article

Therapy

Biesecker LG, Edwards M, O'Donnell S, Doherty P, MacDougall T, Tith K, Kazakin J, Schwartz B
Cold Spring Harb Mol Case Stud 2020 Feb;6(1) Epub 2020 Feb 3 doi: 10.1101/mcs.a004549. PMID: 32014856Free PMC Article

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