A 30 yrs old healthy mother gives birth to baby. The infant born with, growth retardation and motor and mental retardation, large malformed ears, and absence of subcutaneous fat and atrophy muscle mass and enlarged genitalia. Unfortunately, infant die in 6month of age.
Diagnose??
large malformed ears, enlarged genitilia , long face = Fragile X
autism as well (: sometimes they say big genitals and autistic indiv
what is absence of subcutaneous fat and atrophy muscle mass mean then?
no idea sir... perhaps hypermethylation with reduced expression of testosterone = reduced muscle bulk and blah? not really sure.. do elaborate tho...
Donohue syndrome (aka Leprechaunism) child is born with defective insulin receptors.
You see diffuse fetal leyding cell hyperplasia in the testes of infant