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Daniel Murray
Daniel Murray, DOB 12/23/98

 

Features and Characteristics:
  • Primary microcephaly
  • Micrognathia
  • Hypotonia
  • Partial complex seizures of the right temporal lobe
  • Gastroesophageal reflux disease
  • Nearsighted - cortical visual impairment that has improved with time
  • Strabismus (esotropia)
  • Severe global developmental delays
  • Large ears
  • Innocent heart murmur
  • Small for age (weight is 2 standard deviations below the 5th percentile, height below the 5th, and head circumference 2 standard deviations below the 2nd percentile)
  • Bumpy skin over legs and arms
  • Blue sclera
  • Bridged simian crease across palms
  • Hand flapping
  • Eye rolling that is not seizure activity
  • Early tooth eruption
  • Happy disposition - seems to tolerate a lot of discomfort without complaining

Testing with negative results:

  • Chromosome analysis
  • Angelman syndrome FISH probe
  • Metabolic testing
  • MRI (normal with the exception of slightly enlarged ventricles)

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