Question.... - soniashaik

[ArchivalUser]

4 years old child presents with upper respiratory illness. P/E reveals mental retardation, eczema, hypopigmentation and blue eyes. What™s the most likely Dx?

a- Down syn.
b- Tuberous sclerosis
c- PKU
d- Osteogenesis imperfecta
e- Cretinism
f- Galactosemia

[ArchivalUser]

c- PKU

[ArchivalUser]

D osteogenesis imperfecta?

[ArchivalUser]

PKU

[ArchivalUser]

c- PKU

in regards to blue eyes, im guessing you are referring to the iris as opposed to the sclera (e.g., osteogenesis imperfecta).

PKU causes mental retardation, eczema, and hypopigmentation. for the same reason as hypopigmentation, patients with pku often have blue irises.

[ArchivalUser]

c - PKU

[ArchivalUser]

Nice ques and explanation...thanks

[ArchivalUser]

Pku is autosomal recessive and osteogenesis imoerfecta is dominant?

[ArchivalUser]

@ cabergoline , yes Pku is autosomal recessive and most forms (first 5 ) ofosteogenesis imperfecta are dominant