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Achondraplasia Peer Review Journal | Open Access Journals
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International Journal of Public Health and Safety

ISSN: 2736-6189

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Achondraplasia Peer Review Journal

Achondroplasia is the most common genetic skeletal dysplasia. It is characterized by a rhizomelic form of dwarfism, exaggerated lumbar lordosis, a prominent forehead and a low nasal bridge. The trunk is generally of near normal length. People with achondroplasia are short in prominence with a regular sized torso and short limbs. It’s the most common type of disproportionate dwarfism. Although achondroplasia is inherited in an autosomal dominant manner, 80% of affected children have a de novo mutation. Unfortunately, this is not terribly different from much of current medical care. Some of these uncertainties will yield to studies of larger populations, as have been initiated recently. Achondroplasia should be considered prenatally if shortened long bones usually less than 5% are noted on third trimester ultrasonography.

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Citations: 261

International Journal of Public Health and Safety received 261 citations as per Google Scholar report

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