The face does predict the brain--midline facial and forebrain defects uncovered during the investigation of nasal obstruction and rhinorrhea. Case report and a review of holoprosencephaly and its classifications.
When the embryonic forebrain (the prosencephalon) fails to sufficiently divide into the two cerebral hemispheres, holoprosencephaly (HPE) results. This disorder can result in various skull and facial defects with brain abnormalities of varying severity. These brain defects ultimately dictate the prognosis. This varies from death in utero, to normal or near normal brain development. In these less severe cases, otherwise normally developing babies are born with rarely seen midfacial cleft deformities, giving away a structural brain deformity. We report a case of an otherwise developmentally normal seven-year-old boy who was being assessed for nasal obstruction and rhinorrhea. Investigation directed by a high index of suspicion uncovered an occult case of holoprosencephaly.
El-Hawrani
Amged
A
Pediatric Otolaryngology, Division of Pediatric Surgery, The Stollery Children's Hospital, Edmonton, Alta., Canada.
Sohn
Melanie
M
Noga
Michelle
M
El-Hakim
Hamdy
H
D061085:Agenesis of Corpus Callosum; D002559:Cerebrospinal Fluid Rhinorrhea / Q000209:etiology*; D002648:Child; D002971:Cleft Lip / Q000209:etiology; D003337:Corpus Callosum / Q000473:pathology; D004677:Encephalocele / Q000473:pathology; D006179:Gyrus Cinguli / Q000002:abnormalities; D016142:Holoprosencephaly / Q000175:diagnosis*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D015508:Nasal Obstruction / Q000209:etiology*; D010256:Paranasal Sinuses / Q000002:abnormalities / Q000000981:diagnostic imaging; D014057:Tomography, X-Ray Computed