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  What is the medical definition of Pierpont syndrome? 

  This taken from the 2005 AJMG document: axial hypotonia in the first few months

  prolonged feeding problems, moderate/Global developmental delay, no speech

  development, bowed upper lip, "pouting" lower lip, full cheeks, and flat occiput,

   mild microcephaly, high forehead, mid-face hypoplasia, broad nasal tip

  with anteverted nares, widely spaced teeth and central palatal ridge,

  plantar fat pads, fetal finger and toe pads, and increased internipple distance.

 

  What is the family definition of Pierpont Syndrome?

  Short stature, constipation AND diarrhea, grommets (ear tubes), enteral feedings, happy disposition,

  very affectionate and social, great complexion (skin).   Frustration with limited communication. 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 


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