background participants

Participant 161


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Male, age 19 with short stature, heart abnormalities (vascular ring, right aortic arch), exercise intolerance, and abnormal location of the thymus (ectopic thymus tissue)

Date of Report

Jun 16, 2020

Description

After birth, the participant spent time in the NICU due to jaundice, abnormal labs, and heart abnormalities (vascular ring, right aortic arch). The heart differences were surgically corrected. As a child, he was identified to have a mass on the right side of the neck, which was later determined to be abnormal thymus tissue (ectopic thymus tissue). The participant also currently experiences asthma, gastroesophageal reflux, shortening of hamstring muscles (hamstring contractures), and curvature of the spine (kyphosis).

Symptoms / Signs
  • Short stature
  • Accelerated skeletal maturation
  • Stretch marks (striae distensae)
  • Cervical C2/C3 vertebral fusion
  • Curvature of the spine (kyphosis)
  • Shortening of hamstring muscles (hamstring contractures)
  • Abnormality of the ankles (hindfoot deformity)
  • Joint laxity
  • Delayed speech and language development
  • Heart abnormalities (vascular ring, right aortic arch)
  • Abnormal location of the thymus (ectopic thymus tissue)
  • Facial differences (prominent supraorbital ridges, narrow nasal bridge, midface retrusion, deeply set eye)
  • Moderate asthma
  • Gastroesophageal reflux
  • Hernia in upper part of stomach (hiatus hernia)
  • Curvature of penis (chordee)
  • Small bumps on heels of feet (piezogenic pedal papules)
  • Flat feet (pes planus)
  • Early puberty (precocious puberty)
Current Treatments
Prior Treatments
Considered treatments
Previously Considered Diagnoses
  • Microdeletion/duplication syndrome
Other Photographs
Genetic Variants of Interest
Contact

If this participant sounds like you or someone you know, please contact us!

Disclaimer

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