Discussion :
Achondroplasia.
The patients have a disproportionate short stature- with a normal trunk, short arms and short legs. There is proximal shortening of the limbs (rhizomelic dwarfism). The average adult height is 4 feet. These children may also develop symptomatic hydrocephalus as is seen in this patient and the VP shunt tube can be seen in the left hypochondrium. Achondroplasia is an autosomal dominant condition with the abnormal gene located on chromosome 4. However, 75% of cases are new mutations. The parents of children with achondroplasia resulting from a new mutation are usually of normal stature. Their chance of having a second affected child is extremely small. It has been observed that father above 40 years of age are more likely to have children with achondroplasia.
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| Correct Answers : |  62% |
Last Shown : Jul 2004
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