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.

Microcephaly

Head circumference below 2 standard deviations below the mean for age and gender.


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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.