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Diagnosis Found!

Kayla Doane
Kayla Doane, DOB 7/28/95

 

Diagnosis Found:

Kayla has been diagnosed with Rett syndrome.

Features and Characteristics:

  • Global developmental delay
  • Microcephaly
  • Aphasia
  • Slight upslant to the palpebral fissures
  • Epicanthal folds
  • Prominent nasal profile
  • Elongated philtrum
  • Upper lip tapered to corner with a small mouth
  • Narrow palate with broad alveolar ridges
  • Slight hyperactive reflexes
  • Hypotonia
  • Happy disposition, laughter with and without provocation
  • Seizures (absence and petit mal)
  • Non-ambulatory
  • Sleep apnea
  • Small hands and feet
  • Feeding disorder (fed via G-tube)

Testing with negative results:

  • Angelman syndrome (FISH, methylation studies and UBE3A mutation all negative)
  • Prader-Willi syndrome
  • 22q disorders
  • Velocardiofacial syndrome
  • Smith-Magenis syndrome

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