PATIENT #12

Summery: a couple just had that seemed perfectly normal. It had ten fingers and ten toes like a normal baby. But before we discharged the couple, the pediatrician took a few measurements and it has shows that it has an abnormally large head yet abnormally short limbs.

DIAGNOSIS:

• Patient's age: about a week old.
• Abnormal large head, Abnormal small limbs.
• Dwarfism: Achondroplasia.

Genetics:

• Chromosome #: 4
• Gene: FGFR3
• Fibroblast growth factor receptor 3.
• Creates fibroblast to help span cell membrane.
• Causes receptor to over react disturbing bone.

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