A 6 year old boy presents with a progressive mental retardation. diminish visual acuity and deformity of the bones of his chest. The boy exhibits marked developmental delay. Two years ago he develope a DVT(deep vein Thrombobsis) of the left leg.

PE = Phisical exam

Fair skin, tall and thin with long limbs and abnormaly long fingers, mild mental retardation, malar flush, glaucome, cataracts and pectus carinatum.
What is the mos likely Dx?
A- Alport's Disease
B- Klineltfelter
C- Homocystinuria
D-Ehlers-Danlons Syndrome

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Hello ,

The answer is C- Homocystinuria .