Module 36, General Orthopaedist Level

A three month old girl presented for evaluation for disproportionate short stature. The disproportionate stature was of the short limb type. The head had normal configuration. There was a normal distribution of 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. By 13 months of age she developed an unstable kyphosis of the cervical spine.

Question 36A

These are typical presentations for metatrophic dwarfism.

Question 36B

Cervical instability is not usually a problem in children at this age with short stature.

Question 36C

Having a specific diagnosis is not very important to the orthopaedic management.

Question 36D

This condition is transmitted as an autosomal recessive trait, so that parents that conceive a child with the disorder will have a 25% chance of having another child with the disorder with each subsequent pregnancy.

Question 36E

This condition causes extreme short stature. The mean adult height is under 120 CM.( 48 inches).

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