Acrodysostosis

Injury Disease Nutrition Poison Symptoms Surgery Test Special Topic

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Anterior skeletal anatomy

Overview Symptoms Treatment Prevention

Acrodysostosis

• mild to moderate growth deficiency
• mental deficiency in approximately 80% of affected children
• frequent middle ear infections
• 2/3 of patients have hearing deficit

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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