title: Currarino syndrome: variable imaging features in three siblings with HLXB9 gene mutation.
abstract: Currarino syndrome (CS) is characterized by the triad of partial sacral defect, anorectal malformation, and presacral mass and has been recently reported to be associated with mutations in the HLXB9 gene, which have been suggested to be the genetic background of CS. Phenotypic expression of the HLXB9 gene mutation in a CS family varies from an incomplete to a complete triad. We present variable clinical and imaging features of CS in three siblings with genetically identified HLXB9 mutation. Clinical presentation, management and outcome were also reviewed, and we suggest that magnetic resonance imaging should be used as a screening tool in the members of a CS family with genetic mutation in order to avoid morbidity and mortality from an undiagnosed presacral mass.
authors: Department of Radiology and Center for Imaging Science, Samsung Medical Center, Sungkyunkwan University, School of Medicine, Kangnam-Ku, Seoul 135-710, South Korea.
authors: Ah Yeong
authors: AY
authors: Kim
authors: So-Young
authors: SY
authors: Yoo
authors: Ji Hye
authors: JH
authors: Kim
authors: Hong
authors: H
authors: Eo
authors: Tae Yeon
authors: TY
authors: Jeon
mesh_terms: D001003:Anal Canal / Q000002:abnormalities; D003937:Diagnosis, Differential; D004065:Digestive System Abnormalities / Q000175:diagnosis* / Q000235:genetics*; D017809:Fatal Outcome; D005260:Female; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation; D012007:Rectum / Q000002:abnormalities; D012447:Sacrum / Q000002:abnormalities; D035781:Siblings; D013595:Syringomyelia / Q000175:diagnosis* / Q000235:genetics*; D014057:Tomography, X-Ray Computed; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D018398:Homeodomain Proteins; C490003:MNX1 protein, human; D014157:Transcription Factors