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Articles » Skeletal » Thanatophoric dysplasia » Thanatophoric dysplasia, Type I
2009-08-29-13 Thanatophoric dysplasia, type I © Sanchez www.thefetus.net/
Thanatophoric dysplasia, type I

Marcos Antonio Velasco Sanchez, MD; Candelario Conda Moreno, MD; Miguel Angel Albarran, MD; Arturo Zurita Zurita, MD; Javier Cabrera Garcia, MD.

Clinica Medica De Jesus, Pinotepa Nacional, Oaxaca. Escuela De Medicina - Universidad Autonoma De Guerrero. Hospital General S. S. A. Acapulco, Guerrero, Mexico. Instituto Mexicano de Diagnostico Por Imagen, Acapulco, Mexico.

 

Case report  

A 26-year-old woman (G1P0) was referred to our department at 34+5 weeks of her pregnancy. Our ultrasonographic examination revealed several findings on the fetus concordant with diagnosis of the thanatophoric dysplasia type I.

A 25-year-old G1P0 was referred to our department at 29 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. and with flared metaphyses. The length of the femur and humerus corresponded to 16-17 weeks. The ribs were short with flattened vertebral bodies. 

Images 1, 2, 3, and 4: 34+5 weeks; the images 1 and 2 show fetal facial profile with prominent forehead and low nasal bridge. The images 3 and 4 show transverse scans of the fetal head without signs of craniosynostosis.

 

 

Images 5, 6, and 7: 34+5 weeks; the images 5 and 6 show sagittal scans of the narrow fetal thorax and protruding abdomen. The image 7 compares transverse scans of the narrow fetal thorax and relatively large fetal abdomen.

 

Images 8, 9, and 10: 34+5 weeks; the images show short and bowed humerus and femur of the fetus.

  

Images 11, 12: 34+5 weeks; the images show short legs of the fetus with redundant subcutaneous tissue.

 

Images 13, 14: 34+5 weeks; the images show 2D (Image 13) and 3D (Image 14) scans of the fetal face with prominent forehead and depressed nasal bridge.

  

Images 15, 16: 34+5 weeks; the images show 3D scans of the fetal face with prominent forehead and depressed nasal bridge.

  

Images 17, 18: 34+5 weeks; the images show 3D scans of the short fetal upper limbs with redundant subcutaneous tissue.

 

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