Research
Studying extreme short stature can reveal fundamental processes influencing human growth. Scientists found that that using genetic linkage analysis, biallelic loss-of-function mutations in the pericentrin gene (PCNT) on chromosome 21 cause microcephalic osteodysplastic primordial dwarfism type II (MOPD II) in 25 patients (PubMed, 2008). The average adult with primordial dwarfism measure around 100 centimeters high and a brain size that can be compared to a 3-month-old baby, but their intelligence is close to normal. Not having the PCNT gene results in disorganized mitotic spindles and misalignment of chromosomes. Mutations in related genes are known to cause primary microcephaly (MCPH1, CDK5RAP2, ASPM, and CENPJ) (PubMed, 2008). There has been research towards growth hormones but they do not help a person with primordial dwarfism. No medical advances have been in play because the growth hormone does not work.