title: Holoprosencephaly with proboscis.
abstract: This is the case of a male newborn with holoprosencephaly, marked hypotelorism, and a rudimentary nasal structure, the proboscis. The head CT scan showed a single monoventricle and two ocular globes fused at the midline. Chromosome studies showed a normal karyotype. The importance of ultrasonography in the prenatal diagnosis of this malformation is presented.
authors.affiliation: Dr. Ramón Ruiz Arnau University Hospital, Universidad Central del Caribe, School of Medicine, Bayamón, P.R., USA.
authors.forename: M
authors.initials: M
authors.lastname: Galguera
authors.forename: L
authors.initials: L
authors.lastname: Malave
authors.forename: A
authors.initials: A
authors.lastname: Leon
mesh_terms: D001921:Brain / Q000000981:diagnostic imaging; D002972:Cleft Palate; D004453:Echoencephalography; D017809:Fatal Outcome; D005260:Female; D016142:Holoprosencephaly / Q000000981:diagnostic imaging; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D009666:Nose / Q000002:abnormalities*; D011247:Pregnancy; D014057:Tomography, X-Ray Computed