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:



