EURORAD ESR

Case 15381

Oro facial digital syndrome type 1 with heterotopia, polymicrogyria and corpus callosum agenesis- a rare case report

Author(s)
Dr Arjumand jahan 1, Dr Mohd Danish khan2, Dr Piyush Pandey3, Dr. Neera kohli4, Dr. Anit parihar5, Dr. Harsh singh6

1- MD (Junior resident, Department of Radiodiagnosis, KGMU, Lucknow)
2-BSc BHMS DNHE PGDHHM (General physician)
3-MD (Senior resident, Department of Radiodiagnosis, KGMU, Lucknow)
4-MD, FICRI, FIMSA (Head of the department of Radiodiagnosis, KGMU, Lucknow)
5-MD, PDCC Neuroradiology (Additional professor, Department of Radiodiagnosis, KGMU, Lucknow)
6- MD ( Senior resident, Department of Radiodiagnosis, KGMU, Lucknow)

Department of radiodiagnosis, GM associates hospital , king george's medical university; chowk 226003 lucknow; Email:jahan.arjumand@gmail.com
 
Patient
female, 28 year(s)
 
 
  • Figure 1
    General examination of the patient ( Oral)

    Oral examination showing lobulated tongue and abnormal dentition

     
    Area of Interest: Ear / Nose / Throat; Imaging Technique: Experimental; Procedure: Observer performance; Special Focus: Congenital;
     
     
  • Figure 2
    General examination of the patient ( Hands )

    Brachydactyly

     
    Area of Interest: Musculoskeletal system; Imaging Technique: Experimental; Procedure: Observer performance; Special Focus: Congenital;
     
     
  • Figure 3
    General examination of the patient ( Feet )

    Brachydactyly

     
    Area of Interest: Musculoskeletal system; Imaging Technique: Experimental; Procedure: Observer performance; Special Focus: Congenital;
     
     
  • Figure 4
    Sonography of abdomen (Kidney)

    Sonography showing multiple cysts of varying sizes in kidneys- polycystic kidneys

     
    Area of Interest: Kidney; Imaging Technique: Ultrasound; Procedure: Computer Applications-General; Special Focus: Cysts;
     
     
  • Figure 5
    Sonography of abdomen (Pancreas)

    Sonography showing few tiny cysts in pancreatic parenchyma

     
    Area of Interest: Pancreas; Imaging Technique: Ultrasound; Procedure: Computer Applications-General; Special Focus: Cysts;
     
     
  • Figure 6
    Magnetic Resonance Cholangiopancreatography

    Thick slab MRCP images showing beaded dilatation of intrahepatic biliary radicles and bilateral polycystic kidneys

     
    Area of Interest: Biliary Tract / Gallbladder; Kidney; Imaging Technique: MR; Procedure: Imaging sequences; Special Focus: Dilatation;
     
     
  • Figure 7
    MRI Brain

    T2 FRFSE axial section of brain showing bilateral frontal lobe atrophy, gray matter heterotopia in right frontal lobe, polymicrogyria in bilateral frontal & parietal lobe with parallel and wide apart body of lateral...

     
    Area of Interest: Head and neck; Imaging Technique: MR; Procedure: Computer Applications-General; Special Focus: Congenital;
     
     
  • Figure 8
    MRI Brain

    T2 FRFSE sagittal section of brain showing complete agenesis of corpus callosum and age inappropriate atrophy of brain

     
    Area of Interest: Head and neck; Imaging Technique: MR; Procedure: Computer Applications-General; Special Focus: Congenital;
     
     
Oral examination showing lobulated tongue and abnormal dentition
 
Brachydactyly
 
Brachydactyly
 
Sonography showing multiple cysts of varying sizes in kidneys- polycystic kidneys
 
Sonography showing few tiny cysts in pancreatic parenchyma
 
Thick slab MRCP images showing beaded dilatation of intrahepatic biliary radicles and bilateral polycystic kidneys
 
T2 FRFSE axial section of brain showing bilateral frontal lobe atrophy, gray matter heterotopia in right frontal lobe, polymicrogyria in bilateral frontal & parietal lobe with parallel and wide apart body of lateral ventricles
 
T2 FRFSE sagittal section of brain showing complete agenesis of corpus callosum and age inappropriate atrophy of brain
 
 
 
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