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Participant 022


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

Date of Report

May 31, 2017

Description

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
Contact

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