EURORAD ESR

Case 13759

Harlequin ichthyosis - Prenatal diagnosis with two- and three-dimensional ultrasound at 30 weeks

Author(s)
Anjana Trivedi1, Anirudh Chawla1, Jagruti Kalola, Maulik Jethva

Civil Hospital,
P.D.U. Medical College;
Jamnagar Road
360001 Rajkot, India;
Email:anirudhchawla@gmail.com
 
Patient
female, 23 year(s)
 
 
  • Figure 1
    Facial profile- Sagittal 2D ultrasound

    Flattened nose is noted in mid-sagittal section of face.

     
    Area of Interest: Ear / Nose / Throat; Foetal imaging; Imaging Technique: Ultrasound; Procedure: Diagnostic procedure; Special Focus: Congenital; Connective tissue disorders;
     
     
  • Figure 2
    Ultrasound axial section just above globes

    Axial sonogram just above globes shows hypoechoic mass anterior to each globe.

     
    Area of Interest: Eyes; Foetal imaging; Imaging Technique: Ultrasound; Procedure: Diagnostic procedure; Special Focus: Congenital; Connective tissue disorders;
     
     
  • Figure 3
    Ultrasound coronal section through lips

    Mouth is persistently open with thick lips and rounding of angles of the mouth.

     
    Area of Interest: Foetal imaging; Head and neck; Soft tissues / Skin; Imaging Technique: Ultrasound; Procedure: Diagnostic procedure; Special Focus: Congenital; Connective tissue disorders;
     
     
  • Figure 4
    Ultrasound coronal section through pinna

    Flattened rudimentary external ear is noted.

     
    Area of Interest: Ear / Nose / Throat; Foetal imaging; Imaging Technique: Ultrasound; Procedure: Diagnostic procedure; Special Focus: Congenital; Connective tissue disorders;
     
     
  • Figure 5
    Three-dimensional ultrasound of fetal face
     

    Three-dimensional sonogram of fetal face shows persistently open mouth with thick lips and flat nose.

     
    Area of Interest: Ear / Nose / Throat; Foetal imaging; Imaging Technique: Ultrasound; Procedure: Diagnostic procedure; Special Focus: Congenital; Connective tissue disorders;

    Three-dimensional sonogram of fetal face shows persistently open mouth with thick lips, flat nose and bilateral orbital swellings.

     
    Area of Interest: Ear / Nose / Throat; Foetal imaging; Imaging Technique: Ultrasound; Procedure: Diagnostic procedure; Special Focus: Congenital; Connective tissue disorders;
     
     
  • Figure 6
    Three-dimensional ultrasound of fetal face
     

    Three-dimensional sonogram of fetal face shows bilateral orbital swellings, flat nose, thick lips with rounding of angle of mouth and flat rudimentary ear.

     
    Area of Interest: Eyes; Foetal imaging; Imaging Technique: Ultrasound; Procedure: Diagnostic procedure; Special Focus: Congenital; Connective tissue disorders;

    Three-dimensional sonogram of fetal face shows bilateral orbital swellings.

     
    Area of Interest: Eyes; Foetal imaging; Imaging Technique: Ultrasound; Procedure: Diagnostic procedure; Special Focus: Congenital; Connective tissue disorders;
     
     
  • Figure 7
    Three-dimensional surface rendered image of forehead

    Three-dimensional surface rendered image of forehead shows a crack in skin of forehead and bilateral orbital swelling.

     
    Area of Interest: Eyes; Foetal imaging; Imaging Technique: Ultrasound; Procedure: Diagnostic procedure; Special Focus: Congenital; Connective tissue disorders;
     
     
  • Figure 8
    Post-natal photograph of face

    A- Surface rendered sonogram of forehead. B- Post-natal photograph of face. Breach is noted in skin. Bilateral orbital swelling, flat nose and open mouth with thick lips are noted.

     
    Area of Interest: Eyes; Soft tissues / Skin; Imaging Technique: Ultrasound; Procedure: Diagnostic procedure; Special Focus: Congenital; Connective tissue disorders;
     
     
  • Figure 9
    Post natal photograph

    Tiger stripes appearance of cracked skin is noted. Bilateral ectropion are seen producing a mass over each orbit. Flat nose and open fish mouth are noted.

     
    Area of Interest: Ear / Nose / Throat; Eyes; Soft tissues / Skin; Imaging Technique: PACS; Procedure: History; Special Focus: Congenital; Connective tissue disorders;
     
     
Flattened nose is noted in mid-sagittal section of face.
 
Axial sonogram just above globes shows hypoechoic mass anterior to each globe.
 
Mouth is persistently open with thick lips and rounding of angles of the mouth.
 
Flattened rudimentary external ear is noted.
 
Three-dimensional sonogram of fetal face shows persistently open mouth with thick lips and flat nose.
 
Three-dimensional sonogram of fetal face shows persistently open mouth with thick lips, flat nose and bilateral orbital swellings.
 
Three-dimensional sonogram of fetal face shows bilateral orbital swellings, flat nose, thick lips with rounding of angle of mouth and flat rudimentary ear.
 
Three-dimensional sonogram of fetal face shows bilateral orbital swellings.
 
Three-dimensional surface rendered image of forehead shows a crack in skin of forehead and bilateral orbital swelling.
 
A- Surface rendered sonogram of forehead. B- Post-natal photograph of face. Breach is noted in skin. Bilateral orbital swelling, flat nose and open mouth with thick lips are noted.
 
Tiger stripes appearance of cracked skin is noted. Bilateral ectropion are seen producing a mass over each orbit. Flat nose and open fish mouth are noted.
 
 
 
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