Patient #12

Story summery: A couple just had a baby girl that looked perfectly normal. Before we discharged them our pediatrician examined and measured the daughter, and it seems she has an abnormally large head and limbs that are shorter than it should be.

Diagnosis

• A week old.
• Abnormal short limbs and large head.
• Achondroplasia (dwarfism).

GENETICS

• Chromosome #4
• Gene: FGFR3
• Full name: Fibroblast growth factor receptor 3
• Creates fibroblast, spans cell membrane, allows to interact growth factors.
• Receptor over reacts, disturbing bone growth.

INHERITANCE

• Autosomal dominant pattern.
• About 80% have normal sized parents.
• About 20% have parents have inheritance.
• Disease cause by genetic mutation.

If the patient grows up and decides to have children. She would have about two children (If she decided to have four) that would get the disease if she her husband was an average size person.

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If the daughter married a man with the same genetic disease then the possibility of havering children with the inheritance is 3/4.

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