Concluded Case

differential ddx

16 Yrs old boy...presents the following deformities.. Physical growth is less with age...Differential Dx...

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Concluded answer

Morquio Syndrome, also known as Mucopolysaccharidosis Type IV

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Morquio syndrome also called mucopolysacharidosis - but classical bell shaped anterior chest is not like in Morquio syndrome. So Differential Diagnosis is 1.Klippelfiel syndrome 2.Sprengel shoulder 3Hurler's syndrome 4.Skeletal dysplasia

Klipplefiel syndrome. Sprengle shoulder

Thank you doctor
0

It is case of Morquio syndrome a congenital defect and deformity grows worsen as the baby grows older. It is an extreme rare one occurs 1 in 200000. It also called mucopolysacharidosis.

? Mucoplysaccharidosis

Morquio syndrome

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1

RICKETS ( due to lack of vitamin D )

Morquio Syndrome, also known as Mucopolysaccharidosis Type IV

Morquio A syndrome

Multiple bony swellings present?

?Mucopolysaccharidosis (morquis )

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