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Headshot of Participant 008Male, age 13 with global developmental delay, autism, severe nearsightedness (myopia), different facial features, and a history of heart defects (atrial septal defect, ventricular septal defect) and cleft palate

Date of Report September 8, 2016
The patient was born with heart defects (atrial septal defect, ventricular septal defect) and a cleft palate. Shortly after birth, he was noticed to have different facial features, including a triangular face, eye folds (epicanthal folds), decreased creases on his hands and feet, and three bones in his thumbs instead of two (triphalangeal thumbs). The heart defects did not require surgery, but he needed to undergo a cleft palate repair (palatoplasty) in 2012.

Over time, the patient has developed severe nearsightedness (myopia) and acid reflux disease (gastroesophageal reflux), and is cross-eyed (strabismus).

Developmentally, he has been diagnosed with autism and global developmental delay. He participates in occupational, physical, and speech therapy regularly and has a one-on-one aid in the classroom
  • Global developmental delay
  • Attention deficit hyperactivity disorder (ADHD)
  • Autism
  • High pain tolerance
  • Heart defects (atrial septal defect, ventricular septal defect)
  • Heart murmur
  • Acid reflux disease (gastroesophageal reflux)
  • Decreased creases on palms (palmar creases)
  • Tapered fingers
  • Three bones in thumbs instead of two (triphalangeal thumbs)
  • Triangular face
  • Ear infections (recurrent otitis media)
  • Nearsighted (myopia)
  • Cross-eyed (strabismus)
  • Eye folds (epicanthus)
  • Slight unibrow (synophrys)
  • Corners of eye widely separated (telecanthus)
  • Wide nasal bridge
  • Nasal regurgitation
  • Smooth groove in middle area of upper lip (smooth philtrum)
  • Thin upper lip
  • Cleft palate (submucous cleft hard palate)
  • Nasal speech
  • Long toes
  • Seasonal allergies
Current treatments
  • Occupational, physical, speech therapy
  • Glasses – strabismus and myopia
Prior treatments
  • Palatoplasty – cleft palate
Previously Considered Diagnoses
  • Microdeletion/duplication syndrome
  • Velocardiofacial/DiGeorge/22q11.2 deletion syndrome
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