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Home > West Medicine > Surgery > Orthopedics
百科

Punctate epiphyseal dysplasia

骨外科

Common symptoms

扁脸、髋、膝、肘部呈...、鼻梁平塌、青年白内障、智力发育迟缓

The pathology of disease

Punctate epiphyseal dysplasia (chondrodysplasia punctata) is stippled calcification of epiphyses; congenital; short stature; ichthyosis; cataracts.

Symptoms

Short stature; flattened face; ichthyosis; cataracts; joint contractures; stippled epiphyses

Causes

Genetic; peroxisomal; Warfarin embryopathy; chromosomal.

Treatment

Supportive; orthopedic; treat associated conditions

Dept

Orthopedic / genetics / pediatrics.

Warm reminder: Health education reference only; seek care at regular hospital.