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Articles » Skeletal » Thanatophoric dysplasia » Thanatophoric dysplasia, Type II
2010-04-28-14 Thanatophoric dysplasia, type II © Elsherif

Thanatophoric dysplasia, type II

Mohamed Elsherif, MD.

Cairo University, Fetal Medicine Unit, Egypt.  


Case report 

26-year-old G1 was scanned at our unit at 20 weeks of gestation. It was a consanguineous couple, the patient and her husband were first cousins. The amniocentesis results showed normal karyotype. The ultrasound examination revealed the following findings:

  • Macrocephaly, ventriculomegaly
  • Cloverleaf skull
  • Frontal bossing, low nasal bridge, flat facies
  • Rhizomelic shortening of the long bones, less then 3rd percentile
  • Narrow thorax, short ribs
  • Protuberant abdomen

We performed MRI examination which confirmed our ultrasound findings. The fetal head showed cloverleaf skull and large anterior fontanel. Our diagnosis based on this findings was thanatophoric dyplasia, type II.
The patient agreed on pregnancy termination at 24 weeks of gestation.
The postnatal findings, CT and X-ray images were in agreement with our diagnosis. Parents did not agree with an autopsy.

Images 1,2: Profile of the fetus, note the frontal bossing and low nasal bridge.

Images 3,4: Image 3 shows a cloverleaf skull, typical sign of type II thanatophoric dysplasia. Image 4 shows a flat fetal face, proptosis of the eyes and depressed nasal bridge.

Images 5-8:3-D images of the fetal profile.

Images 9,10: Image 9 shows a sagittal view, note short ribs, narrow thorax and protuberant abdomen. Image 10 shows a markedly shortened lower extremities.

Video 1,2: Video 1 shows the fetal profile. Video 2 shows sagittal view of the fetal thorax and abdomen.

Video 3: Video of the fetal head with cloverleaf skull.

Images 11,12: MRI images, Image 11 shows a cloverleaf skull. Image 12 shows a large anterior fontanel.


Images 13,14: Images of the fetus with typical facies, skull, small thorax, protuberant abdomen and short extremities.

Images 15,16: Postnatal X-ray images, note platyspondyly, short ribs, micromelia and large skull. The femur bones are markedly shortened but not curved, as in type I.

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