Cochlear abnormality in a case of Pallister-Hall syndrome.
Pallister-Hall syndrome (PHS) is a rare condition characterised by anomalies including hypothalamic hamartoma, bifid epiglottis and postaxial polydactyly. Hearing loss has been recognised in this condition. Cochlear abnormalities have been described in mouse models of PHS, but there are no reports of similar findings in humans to date. This report describes a case of PHS with bilateral cochlear hypoplasia as seen on MRI.
Department of Radiology, Alder Hey Children's Hospital NHS Foundation Trust, Eaton Road, Liverpool, L12 2AP, UK. shivaram.avula@alderhey.nhs.uk
Shivaram
S
Avula
Nusrat
N
Alam
Elaine
E
Roberts
D003051:Cochlea / Q000002:abnormalities* / Q000473:pathology*; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging / Q000379:methods*; D054975:Pallister-Hall Syndrome / Q000175:diagnosis*