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Articles » Skeletal » Thanatophoric dysplasia » Thanatophoric dysplasia, Type I » Thanatophoric dysplasia, 2nd trimester

2003-09-09-11 Thanatophoric dysplasia, type 1 © Quintero

Thanatopohoric dysplasia, type I

Juan Carlos Quintero, MD

Cali Colombia, Centro Medico Imbanaco.Unidad de Diagnostico Prenatal.

This is a case of a primigravida, 26 years old without risks factors and no remarkable history. This is an ultrasound exam at 18 weeks of gestational age.
Normal skull and head biometry at the 50th  Percentile for 18 weeks.

Nuchal fold 3.1 mm at 18 weeks.


Normal profile.
Thorax circumference less than 5th percentile, short ribs with some fractures. Normal abdomen

Arms and legs with severe rhizo-mesomelia, bowed bones with fractures, all measurements less than the 3rd percentile.


Normal hands and feet.

At autopsy Thanatophoric dysplasia was confirmed.

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