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Am J Med Genet A ; 176(10): 2140-2145, 2018 10.
Article in English | MEDLINE | ID: mdl-30365873

ABSTRACT

Children with 22q11.2 deletion syndrome often come to medical attention due to signs and symptoms of neurologic dysfunction. It is imperative to understand the expected neurologic development of patients with this diagnosis in order to be alert for the potential neurologic complications, including cortical malformations, tethered cord, epilepsy, and movement disorders. We present an update of brain imaging findings from the CHOP 22q and You Center, a review of the current literature, and our current management practices for neurological issues.


Subject(s)
DiGeorge Syndrome/physiopathology , Nervous System Diseases/genetics , DiGeorge Syndrome/diagnostic imaging , Humans , Magnetic Resonance Imaging , Nervous System Diseases/diagnostic imaging , Nervous System Diseases/physiopathology
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