Module 36, General Medical Level

A 3 month old girl presented for evaluation for a disproportionate short stature. The disproportionate stature was of the short limb type. The head had normal configuration. There was a normal distribution of the hair. The ears were thickened and inflamed. Epicanthic folds were not present. The nose was broad at the root as well as in the mid-bridge. There was clefting of the first part of the palate.

Question 36A

These are typical presentations for achondroplasia.

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Question 36B

Infants with short stature problems may have respiratory problems because of restricted chest wall.

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Question 36C

Some short limb dwarfs especially those with diastrophic dwarfism have problems with severe neck instability which may present very young.

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Question 36D

Most cases of dwarfism are not inherited, therefore families are not at risk for second child with the same condition.

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Question 36E

In general most children with dwarfism are cognitively normal and will function well in school.

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