Acrodysostosis
Alternate Names : Acrodysplasia, Arkless-Graham, Maroteaux-Malamut
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Acrodysostosis Diagnosis & Tests
An examination of the infant confirms the symptoms and signs of this disorder:
- widely spaced eyes (hypertelorism)
- short head, measured front to back (brachycephaly)
- small upturned broad nose with flat nasal bridge
- protruding jaw
- short arms and legs with deformities of the hands and feet
- may have other abnormalities of the skin, genitals, teeth, and skeleton
- In the first months of life, X-rays may show spotty calcium deposits (stippling) in bones (especially in the nose), short bones, and other distinctive abnormalities.
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