Clinical manifestations in semilobar holoprosencephaly

Elisa Elisa (Pediatric Intensive Care Unit, ]ogja International Hospital, Yogyakarta, Central Java)
A. H. Putranti (Department of Child Health, Diponegoro University Medical School/Dr. Karyadi Hospital, Semarang, Central Java)
E. Mulyono (Department of Radiology, Gadjah Mada University Medical School/Dr. Sardjito Hospital, Yogyakarta, Central Java)

Paediatrica Indonesiana
Vol 51 No 3 (2011): May 2011

Holoprosencephaly (HPE) is a brain malformation caused by a primary defect in induction and patterning of the rostral neurotube (basal forebrain) during the first 4 weeks of embryogenesis. T his defect results in incomplete separation of the cerebral hemispheres.Based on the degree of hemispheric nonseparation, HPE traditionally has been classified into three types: alobar, semilobar, and lobar.! In 1963, DeMyer et al. mentioned that defects in brain development may frequently coexist with abnormalities on the midfacial region. T he median facio-cerebral anomalies appear in various associated gradations and combinations.When combined in patterns, these facies always predict a severe, highly characteristic brain anomaly.2