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.

Short stature

A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to \"short stature\" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).


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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.