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Articles » Skeletal » Thanatophoric dysplasia » Thanatophoric dysplasia, Type I

2008-12-04-14 Thanatophoric dysplasia, type I © Sanchez www.thefetus.net/


Thanatophoric dysplasia, type I

 

Marcos Antonio Velasco Sanchez, MD, Candelario Conda Moreno, MD; Cesar Gonzalez Ghavez, MD; Arely Valtierra Mendoza, MD; Luz Adriana Bernal, MD; Javier Cabrera Garcia, MD.

Department of Gynecology. Hosital General S. S. A. Acapulco Gro. Mex. Instituto Mexicano de Diagnostico por Imagen. Facultad de Medicina de la Universidad Autonoma de Guerrero, Mexico. 

Case report

A 30-year-old woman (G3P2) was referred to our department at 35 weeks of her pregnancy. Our ultrasonographic examination revealed a large cranium with prominent forehead and depressed nasal bridge of the fetus. Its thorax was of normal length but markedly narrow in comparison with the prominent abdomen. The limbs were very short with redundant subcutaneous tissue. Femur and humerus were thick, short and bowed with a "telephone receiver" appearance. The length of the femur and humerus corresponded to 17 weeks.

Images 1, 2. Sagittal scans of the fetal face and thorax. Note the prominent forehead and depressed nasal bridge and narrow thorax.

 

Images 3, 4. The image 3 compares the transverse abdominal size with the transverse thoracic size which is apparently smaller. The image 4 compares the abdominal and head circumferences - the circumference of the fetal head is bigger than the abdominal one.

 

Images 5, 6. The images show very short upper extremities with redundant subcutaneous tissue.

 

Images 7, 8. The image 7 shows short bowed femurs of the fetus. The image 8 shows the fetal hand and foot with redundant subcutaneous tissue.

 

Images 7, 8. The image short short leg of the fetus with redundant subcutaneous tissue.

Images 7, 8. The images show 3D scans of the fetal face with prominent forehead and depressed nasal bridge.

 

Images 7, 8. The images show 3D scans of the short fetal leg with redundant subcutaneous tissue.

 

 

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