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The following disorders are additional conditions that may be detected by screening. Many are listed as "secondary targets" by the 2005 ACMG report. [1] Some states are now screening for more than 50 congenital conditions. Many of these are rare and unfamiliar to pediatricians and other primary health care professionals. [1] Blood cell disorders
Protruding ear, otapostasis or bat ear is an abnormally prominent human ear. It may be unilateral or bilateral. The concha is large with poorly developed antihelix and scapha. It is the result of malformation of cartilage during primitive ear development in intrauterine life. [1] The deformity can be corrected anytime after five years of age.
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Newborn screening mostly measures metabolite and enzyme activity using a dried blood spot sample. [99] Screening tests are carried out in order to detect serious disorders that may be treatable to some extent. [100] Early diagnosis makes possible the readiness of therapeutic dietary information, enzyme replacement therapy and organ transplants ...
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