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Participant 022

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Female, age 22, with short stature, joint contractures, tight and thickened skin, growth hormone deficiency, and restrictive lung disease

Date of Report

May 31, 2017


At birth, the patient was found to have joint contractures and a heart defect (atrial septal defect), which did not require surgery. She also had difficulty gaining weight (failure to thrive) and needed a gastrostomy tube (G-tube) for feeding.

Since a young age, the patient has had short stature and tight, thickened skin (lack of skin elasticity). She also has difficulty breathing (restrictive lung disease) and growth hormone deficiency.

Symptoms / Signs
  • Short stature
  • Joint contractures
  • Joint and muscle pain
  • Tight, thickened skin (lack of skin elasticity)
  • Abnormal scarring
  • Growth hormone deficiency
  • Flat face
  • Increased distance between the eyes (telecanthus)
  • Cross-eyed (strabismus)
  • Lockjaw (trismus)
  • Middle ear dysfunction (chronic Eustachian tube dysfunction)
  • Heart rhythm abnormality (AV nodal tachycardia)
  • Difficulty breathing (restrictive lung disease)
  • Sleep apnea (obstructive)
  • Short fingers and toes (brachydactyly syndrome)
  • Bone tissue loss (aseptic necrosis)
  • Disorder of long bone development (multiple epiphyseal dysplasia)
  • Excess curvature of the spine (lumbar kyphosis)
  • Narrowed opening between stomach and small intestine (pyloric stenosis)
  • Stroke caused by blood clot (thromboembolic stroke)
  • Low blood sugar (hypoglycemia)
Current Treatments
  • BiPAP- restrictive lung disease
Prior Treatments
  • G-tube- failure to thrive
  • Growth hormone therapy- growth hormone deficiency
  • IGF-1- growth hormone deficiency
  • Oxygen- restrictive lung disease
  • Pyloromyotomy- pyloric stenosis
Considered treatments
Previously Considered Diagnoses
  • Skeletal dysplasia
  • Connective tissue disorder
Other Photographs
Genetic Variants of Interest

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