Posts Tagged ‘testing’

Genetics: Diagnosis, Testing & Recurrence

Diagnosis (also see Medical Professionals) Who might have CHARGE? CHARGE syndrome should be considered in anyone with multiple anomalies who also has at least one of the major features (see Signs & Symptoms). Coloboma Choanal Atresia Typical CHARGE external ears: CHARGE Ears CHARGE vestibular phenotype (small or absent semicircular canals) Diagnosis of CHARGE can be challenging because: Features […]

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