Module 6, Pediatric Orthopaedist Level

This is a two year old girl who was the product of a normal gestation. She has two healthy half-sisters. At birth the following problems were noted: 1. Disproportionate short-limb dwarfism with hitch-hiker thumbs, 2. Cleft palate, 3. Bilateral clubfoot (left worse right), 4. Respiratory difficulties because of laryngomalacia, 5. Lack of extension in elbows and knees (moderate), 6. Cauliflower deformity of ears occurred in the first weeks of life. She started walking at the age of 17 months (with some flexion of hips and knees).

Question 6A

The etiology of this condition has been identified on chromosome 5.

Question 6B

Pubertal growth spurt will not occur in this child.

Question 6C

By age 5 to 8 you expect that this girl will need a spine fusion.

Question 6D

By the age of 4 years she has again developed a severe equinus ankle contracture. A heel cord lengthening should be performed at this age rather than let the deformity get worse.

Question 6E

Interpedicular narrowing occurs in 75% of patients which often leads to spinal stenosis.