Module 6, General Medical 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 than 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 age: 17 months (with some flexion
of hips and knees)
Question 6A
These
conditions are all typical for Diastrophic Dwarfism.
Question 6B
At
birth she was 32 CM long which is consistent with the other symptoms.
Question 6C
Very
careful evaluation of the girl's cervical spine in the first year life
is required.
Question 6D
Most
children with this condition learn to walk.
Question 6E
The
cauliflower ear deformities mean that she has a severe hearing impairment.
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