The purpose of this overview is to increase the awareness of clinicians regarding the genetic causes of holoprosencephaly and to inform genetic counseling of family members. The following are the goals of this overview.
Goal 1: Describe the clinical characteristics of holoprosencephaly.
Goal 2: Review the genetic causes of holoprosencephaly.
Goal 3: Provide an evaluation strategy to identify (when possible) the genetic cause of holoprosencephaly in a proband.
Goal 4: Inform genetic counseling of family members of an individual with holoprosencephaly.
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