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

2007-01-10-07 Thanatophoric dysplasia, Type I © Sanchez

Thanatophoric dysplasia, type I.

Marcos Antonio Velasco Sanchez, MD, C.C. Moren, MD, A. S. Salgado, MD, J. M. A. Caro, MD, J.D. Bautista, MD, C. Dominiguez, MD, M. A. V. Perez, 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. 

A 35-year-old G5P2 was referred to our department at 38th week of pregnancy. Ultrasonography revealed a fetus with a large cranium with prominent forehead and depressed nasal bridge. His thorax was markedly narrow in comparison with the prominent abdomen. The limbs were very short with redundant subcutaneous fat. Femur and humerus were thick, short and bowed with a "telephone receiver" appearance. The ribs were short with flattened vertebral bodies. These are images that we obtained.

Images 1, 2. Face of the fetus with prominent forehead and depressed nasal bridge (left); and foot of the fetus wit redundant subcutaneous fat (right).


Images 3, 4. Short bowed long bones.


Images 5, 6. Foot and hand of the fetus.


Images 7, 8. Narrow thorax with relatively small heart.


Images 9, 10. Postnatal appearance of the baby.


Image 11. Postnatal appearance of the baby.



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