EURORAD ESR

Case 15213

Antenatal diagnosis of Thanatophoric dysplasia

Author(s)
Dr. Akshay Pendkar, 3rd year Radiology resident; Dr. Ketan Rathod M.D., Assistant Professor; Dr. H.P.Parekh M.D., Professor; Dr. N.U.Bahri M.D., Professor and Head.

Shri Guru Gobind Singh Hospital, Shri Guru Gobind Singh Hospital; P.N.Marg 361008 Jamnagar, India; Email:drakshay28@gmail.com
 
Patient
female, 24 year(s)
 
 
  • Figure 1
    Antenatal Ultrasound

    Antenatal Ultrasound demonstrating sagittal section of fetus showing increased nuchal fold thickness (13.7 mm, white double headed arrow), narrow thoracic cavity (blue arrow) with relatively large abdominal...

     
    Area of Interest: Obstetric imaging; Imaging Technique: Ultrasound; Procedure: Education; Special Focus: Dysplasias;
     
     
  • Figure 2
    Antenatal Ultrasound
     

    Antenatal Ultrasound demonstrating axial section of fetus with chest circumference measuring 11.3 cm.

     
    Area of Interest: Obstetric imaging; Imaging Technique: Ultrasound; Procedure: Education; Special Focus: Dysplasias;

    Antenatal Ultrasound demonstrating axial section of fetus abdominal circumference measuring 15.7 mm (Thoracic-abdominal ratio: 0.73, less than 0.8, suggests possibility of pulmonary hypoplasia).

     
    Area of Interest: Obstetric imaging; Imaging Technique: Ultrasound; Procedure: Education; Special Focus: Dysplasias;
     
     
  • Figure 3
    Antenatal Ultrasound

    Antenatal Ultrasound demonstrating coronal section of fetal head showing relatively large head suggestive of macrocephaly.

     
    Area of Interest: Obstetric imaging; Imaging Technique: Ultrasound; Procedure: Education; Special Focus: Dysplasias;
     
     
  • Figure 4
    Antenatal Ultrasound
     

    Antenatal ultrasound demonstrating shortened fetal femur (length 1.36 cm) corresponding to 14 week 1 day gestation.

     
    Area of Interest: Obstetric imaging; Imaging Technique: Ultrasound; Procedure: Education; Special Focus: Dysplasias;

    Antenatal ultrasound demonstrating shortened humerus (length: 1.47 cm) corresponding to 14 week 1 day gestation.

     
    Area of Interest: Obstetric imaging; Imaging Technique: Ultrasound; Procedure: Education; Special Focus: Dysplasias;
     
     
  • Figure 5
    Antenatal Ultrasound
     

    Antenatal ultrasound demonstrates fetal longitudinal section showing short, stubby thick bilateral lower limbs.

     
    Area of Interest: Obstetric imaging; Imaging Technique: Ultrasound; Procedure: Education; Special Focus: Dysplasias;

    Antenatal ultrasound demonstrates fetal axial section showing excessive soft tissue around shortened long bones of lower limb.

     
    Area of Interest: Obstetric imaging; Imaging Technique: Ultrasound; Procedure: Education; Special Focus: Dysplasias;
     
     
  • Figure 6
    Antenatal Ultrasound

    Antenatal Ultrasound demonstrating short telephone handle shaped femur.

     
    Area of Interest: Obstetric imaging; Imaging Technique: Ultrasound; Procedure: Education; Special Focus: Dysplasias;
     
     
  • Figure 7
    Antenatal Ultrasound
     

    Antenatal ultrasound showing shortened femur (length 1.36 cm) corresponding to 14 week 1 day gestation.

     
    Area of Interest: Obstetric imaging; Imaging Technique: Ultrasound; Procedure: Education; Special Focus: Dysplasias;

    Antenatal Ultrasound showing foot length, 2.32 cm (femur to foot length ratio is reduced: 0.58, normally it is around 1) suggestive of skeletal dysplasia.

     
    Area of Interest: Obstetric imaging; Imaging Technique: Ultrasound; Procedure: Education; Special Focus: Dysplasias;
     
     
Antenatal Ultrasound demonstrating sagittal section of fetus showing increased nuchal fold thickness (13.7 mm, white double headed arrow), narrow thoracic cavity (blue arrow) with relatively large abdominal circumference (black arrow).
 
Antenatal Ultrasound demonstrating axial section of fetus with chest circumference measuring 11.3 cm.
 
Antenatal Ultrasound demonstrating axial section of fetus abdominal circumference measuring 15.7 mm (Thoracic-abdominal ratio: 0.73, less than 0.8, suggests possibility of pulmonary hypoplasia).
 
Antenatal Ultrasound demonstrating coronal section of fetal head showing relatively large head suggestive of macrocephaly.
 
Antenatal ultrasound demonstrating shortened fetal femur (length 1.36 cm) corresponding to 14 week 1 day gestation.
 
Antenatal ultrasound demonstrating shortened humerus (length: 1.47 cm) corresponding to 14 week 1 day gestation.
 
Antenatal ultrasound demonstrates fetal longitudinal section showing short, stubby thick bilateral lower limbs.
 
Antenatal ultrasound demonstrates fetal axial section showing excessive soft tissue around shortened long bones of lower limb.
 
Antenatal Ultrasound demonstrating short telephone handle shaped femur.
 
Antenatal ultrasound showing shortened femur (length 1.36 cm) corresponding to 14 week 1 day gestation.
 
Antenatal Ultrasound showing foot length, 2.32 cm (femur to foot length ratio is reduced: 0.58, normally it is around 1) suggestive of skeletal dysplasia.
 
 
 
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