1 1/2 year old girl with coarse facies, developmental delay, x ray bullet shaped phalanges, oar shaped ribs and thin bones. Any differentials?

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Hurler's syndrome.

Pointing of proximal metacarpals. Thoracolumbar kyphosis. Anterior inferior braking of ALL vertebral bodies Short and stout long bones. Hurlers syndrome.
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Her wrist xray s/o rickets which could be nutritional. Do give calcium vitD Rest of the X-rays point to some rare syndrome complex.

Thank u sir
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Hurler's syndrome

Hurler's syndrome ( MPS TYPE 1 )

Thank u sir
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Radiographs findings are called dysostosis multiplex

Rickets

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Hurler,cannot be hunter as it's a x linked recessive only in males.

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Hurler's syndrome.

MPS,

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MPS, skeleton survey , enzyme study

Thanks doc
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