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What exactly is achondroplasia? Who was the person to discover it?

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Dr. Nikolaos Zacharias
Obstetrics & Gynecology - Maternal Fetal Medicine
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In brief: Dwarfism.

Achondroplasia, the most common cause of nonlethal short limb dwarfism is characterized by macrocephaly (disproportionately large head) and rhizomelia (short proximal long bones in amrs/legs).
Heterozygous individuals have a normal life span and normal intelligence. Homozygous achondroplasia is parinatally lethal. Incidence of nonlethal form:1:10, 000-1:30, 000. Typically de novo paternal mutations.

In brief: Dwarfism.

Achondroplasia, the most common cause of nonlethal short limb dwarfism is characterized by macrocephaly (disproportionately large head) and rhizomelia (short proximal long bones in amrs/legs).
Heterozygous individuals have a normal life span and normal intelligence. Homozygous achondroplasia is parinatally lethal. Incidence of nonlethal form:1:10, 000-1:30, 000. Typically de novo paternal mutations.
Dr. Nikolaos Zacharias
Dr. Nikolaos Zacharias
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