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GTR Home > Tests > Thoracic Aortic Aneurysm Panel

Indication

This is a clinical test intended for Help: Diagnosis

Clinical summary

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Imported from OMIM

Congenital heart defects and skeletal malformations syndrome (CHDSKM) is characterized by atrial and ventricular septal defects, with aortic root dilation in adulthood. Skeletal defects are variable and include pectus excavatum, scoliosis, and finger contractures, and some patients exhibit joint laxity. Failure to thrive is observed during infancy and early childhood (Wang et al., 2017).

Clinical features

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Imported from Human Phenotype Ontology (HPO)

  • Anal atresia
  • Coarctation of aorta
  • Arachnodactyly
  • Cryptorchidism
  • Carious teeth
  • Fetal growth restriction
  • Pes planus
  • Atrial septal defect
  • Ventricular septal defect
  • Kyphosis
  • Scoliosis
  • Dental crowding
  • Intestinal malrotation
  • Frontal bossing
  • Congenital diaphragmatic hernia
  • High palate
  • Cutis marmorata
  • Short stature
  • Chronic constipation
  • Upslanted palpebral fissure
  • Deeply set eye
  • Thin skin
  • Narrow nose
  • Global developmental delay
  • Thin vermilion border
  • Camptodactyly
  • Hypospadias
  • Smooth philtrum
  • Aortic root aneurysm
  • Narrow forehead
  • Long nose
  • Sandal gap
  • Pointed chin
  • Medial flaring of the eyebrow
  • Soft skin
  • Joint hypermobility
  • Broad forehead
  • Clinodactyly of the 5th finger
  • Narrow maxilla
  • Short nose
  • Downturned corners of mouth
  • Pectus excavatum
  • Failure to thrive
  • Short chin
  • Repeated pneumothoraces
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Conditions tested

Target population

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Not provided

Clinical validity

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Not provided

Clinical utility

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Not provided

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