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.

• 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)

• BiPAP- restrictive lung disease

• G-tube- failure to thrive
• Growth hormone therapy- growth hormone deficiency
• IGF-1- growth hormone deficiency
• Oxygen- restrictive lung disease
• Pyloromyotomy- pyloric stenosis