Microform holoprosencephaly

Microform holoprosencephaly is a benign form of holoprosencephaly (HPE; see this term) characterized by midline defects without the typical HPE defect in brain cleavage.

Seizure

Seizures are an intermittent abnormality of the central nervous system due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements. The term epilepsy is used to describe chronic, recurrent seizures.


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PMID (PMCID)
25257745
 MALE Infant, Newborn
A 13-year-old boy with a 7q36.1q36.3 deletion with additional findings.
Hyohyeon C, Lee CG.
Am J Med Genet A. 2015;167A(1):198-203.
He showed microform holoprosencephaly with microcephaly, distinctive facial features, severe intellectual disabilities, behavior problems, seizures, short stature, penoscrotal transposition, and ulnar ray deficiency.