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Articles » Skeletal » Thanatophoric dysplasia » Thanatophoric dysplasia, Type I » Thanatophoric dysplasia, 3rd trimester

2004-07-20-11 Thanatophoric dysplasia, type I © Sanchez www.thefetus.net/


Thanatophoric dysplasia, type I

Carlos Sanchez, MD

20 de noviembre 184, Santiago Ixc. Nayarit México. CP: 63300

This is a fetus at 34 weeks gestation with Thanatophoric dysplasia, type I.  The mother is a 30-year-old woman, G2P1 with an unremarakble medical history. She had a previously healthy child. Her scan showed polyhydramnios and discordance in fetal biometry. The parameters recorded were:

  • Femur length: 20.5 mm
  • Humerus length: 24 mm
  • Foot length: 55 mm
  • Abdominal circumference: 331 mm
  • Thoracic circumference: 225 mm
  • Left kidney length: 41 mm

Antenatal scans and postnatal photographs are shown: 

Chest to abdomen discrepancy (both scans are not at the same scale)

Ventriculomegaly:

Platyspondyly:

Normal 4-chamber view:

Short limbs:

Frontal bossing:

Polyhydramnios:

Postnatal radiograph:

Postnatal photographs:

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