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Articles » Skeletal » Thanatophoric dysplasia » Thanatophoric dysplasia, Type I
2010-07-27-14 Thanatophoric dysplasia, type I © Asali

Thanatophoric dysplasia, type I 

Othman A. R. M. Al-Asali, MD.*, Manal Alhakeem, MD.**
*  Department of Obstetrics and Gynecology, Al-Hammadi Hospital, Riyadh, Saudi Arabia.
Department of Radiology, Al-Hammadi Hospital, Riyadh, Saudi Arabia.

Case report

A 40-year-old woman G5 P4 with non-contributive family or personal history was referred to our department at 30 weeks of gestation. The ultrasound findings showed increased amount of the amniotic fluid and protuberant abdomen.
Our ultrasound examination revealed the following findings: biparietal diameter measured 41 weeks, abdominal circumference measured 32 weeks. There was a significant increase in the amount of the amniotic fluid, maximum vertical pocket measured 16 cm. The head showed signs of hydrocephalus, frontal bossing and depressed nasal bridge. There were no signs of craniosynostosis, cloverleaf skull. There was a severe micromelia. Chest was small.

Our diagnosis, based on the ultrasound findings, was a lethal skeletal dysplasia, Thanatophoric dysplasia, type I.

Parents wished for the pregnancy termination due to an adverse prognosis for the fetus. The neonate died 15 minutes after delivery due to asphyxia. Parents did not wish for any further examination of the fetus such as radiograms, autopsy or genetic testing. Clinical examination of the fetus confirmed our diagnosis of Thanatophoric dysplasia, type I.

Images 1,2: 3D images of the fetal face, note the frontal bossing and depressed nasal bridge.

Images 3,4: Severe hydrocephalus, biparietal diameter corresponds with 40 weeks of gestation.

Images 5,6: Image 5 shows view of the fetal thorax and abdomen, note short, small chest and protuberant abdomen with hydronephrosis. Image 6 shows a transverse view of the fetal abdomen.

Images 7-10: Image 7 shows a foot. Images 8-10 short short, micromelic limbs.

Images 11, 12: Image 11 shows a 3D image of the fetus, note extremely short chest and short limbs. Image 11 shows the maximum vertical pocket of the amniotic fluid, increased amount of the amniotic fluid.

Images 13-15: Images of the fetus after pregnancy termination. Note extreme micromelia, short, narrow thorax, protuberant abdomen. The head shows frontal bossing and depressed nasal bridge.

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