Mary Jo F Kutler, DO, FACOP, FAAP Mid face flatness / retraction - - PowerPoint PPT Presentation

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Mary Jo F Kutler, DO, FACOP, FAAP Mid face flatness / retraction - - PowerPoint PPT Presentation

Dec 29, 2023 108 likes •276 views

Mary Jo F Kutler, DO, FACOP, FAAP Mid face flatness / retraction Prominent lower lip/prognathia High arched palate / possible cleft Hypotonia Asthenic body, pectus excavatum and kyphoscoliosis Long hands, big toes,

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SLIDE 1

Mary Jo F Kutler, DO, FACOP, FAAP

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SLIDE 2
  • Mid face flatness / retraction
  • Prominent lower

lip/prognathia

  • High arched palate /

possible cleft

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SLIDE 3
  • Hypotonia
  • Asthenic body, pectus excavatum

and kyphoscoliosis

  • Long hands, big toes,
  • steoporosis, fractures and

hip luxation

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SLIDE 4
  • Intellectual disability
  • Seizures
  • Speech abnormalities
  • Unsteady gait
  • Nephrocalcinosis, mixed RTA
  • Kidney stones
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SLIDE 5
  • Not all Snyder-Robinson Syndrome

patients will have the same presentation

  • Seizures -EEG
  • Hypsarrhythmia- infantile spasms
  • Lennox Gastaut – daily, multiple

seizures; varied in presentation

  • Tonic and myoclonic (most common),
  • Atonic / drop attacks (1 – 4 sec, head

nodding, sagging at the knees)

  • Tonic-clonic
  • Atypical absence
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SLIDE 6
  • Ophthalmic evaluation
  • Cortical Visual Impairment
  • Retinal scar
  • Retinal pigmentation
  • Photophobia
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SLIDE 7
  • Reactive Airways Disease
  • Pneumonia, chronic pneumonia
  • Laryngo, tracheo, bronchomalacia
  • Mucociliary dysfunction?
  • Chylothorax (1 patient)
  • Pneumothorax
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SLIDE 8
  • Gastroesophageal reflux

disease (GERD)

  • Failure to thrive
  • Slow eating
  • G-tube
  • GI bleed
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SLIDE 9
  • Chronic constipation and /or

secretory diarrhea, dysmotility, ileus

  • Disorder of fat

metabolism?

  • Endoscopy and/or colonoscopy
  • Ultrasound / echocardiogram
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SLIDE 10
  • Neurogenic bladder
  • Undescended testicle (cryptorchidism)
  • Mixed RTA/ electrolyte abnormalities
  • Glucose abnormalities
  • Hypokalemia (decreased potassium)
  • Bicarb loss (decreased CO2)
  • Sodium loss
  • Calcium loss
  • Magnesium loss
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SLIDE 11
  • Kidney disease
  • Renal cysts
  • Mixed renal tubular acidosis
  • Nephrocalcinosis
  • Calcium metabolism abnormality?

Osteoporosis – demineralization of the bones

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SLIDE 12
  • Hematologic abnormalities
  • Anemia of chronic disease
  • Iron deficiency anemia
  • Thrombocytopenia
  • Temperature regulation
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SLIDE 13
  • SRS patients will present with

varying types of developmental delay

  • Speech Therapy
  • Physical Therapy
  • Occupational Therapy
  • Music Therapy
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SLIDE 14
  • Aquatic Therapy
  • Equestrian Therapy
  • Attendant Care
  • Respite Care
  • Nursing Care
  • Habilitation
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SLIDE 15
  • Raise awareness
  • Education