title: Holoprosencephaly sequence.
abstract: Holoprosencephaly (HPE) sequence is a rare spectrum of cerebral and facial malformations resulting from incomplete division of the embryonic forebrain into distinct lateral cerebral hemisphere. Three ranges of increasing severity are described: lobar, semi-lobar and alobar HPE. A subtype of HPE called middle inter-hemispheric variant (MIHF) has been also reported. The etiology is heterogeneous: teratogens, chromosomal abnormalities and single gene mutations can be involved. Holoprosencephaly results in early morbidity and mortality with a reduced survival beyond neonatal period. The disorder is estimated to occur in 1/16,000 live births. This case report presents a male new born diagnosed with holoprosencephaly, accompanied by median cleft palate, absent nasal bones and chromosomal abnormalities.
authors.affiliation: Department of Neonatology, University of Medicine and Pharmacy of Craiova, Romania. coletaelena@hotmail.com
authors.forename: Elena
authors.initials: E
authors.lastname: Coletă
authors.forename: Mirela
authors.initials: M
authors.lastname: Siminel
authors.forename: Mihaela
authors.initials: M
authors.lastname: Gheonea
mesh_terms: D002877:Chromosomes, Human / Q000235:genetics; D002972:Cleft Palate / Q000150:complications; D017809:Fatal Outcome; D016142:Holoprosencephaly / Q000150:complications / Q000000981:diagnostic imaging / Q000473:pathology*; D006801:Humans; D007621:Karyotyping; D008297:Male; D014463:Ultrasonography