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Articles » Skeletal » Thanatophoric dysplasia » Thanatophoric dysplasia, Type I
2008-10-26-13 Thanatophoric dysplasia, type I © Sanchez
Thanatophoric dysplasia, type I

Marcos Antonio Velasco Sanchez, MD; Hilario Conda Moreno, MD; Bulmaro Torreblanca Guerrero, MD; Arely Valtierra Mendoza, 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 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: 29 weeks; the image 1 shows transverse scans of the fetal head. No sign of craniosynostosis can be seen. The image 2 shows the transverse scan of the fetal head and very short femur of the fetus. 


Images 3, 4: 29 weeks; the images show short long bones of the fetus.


Images 5, 6: 29 weeks; the image 5 shows fetal hand with short fingers and bowed short humerus. The image 6 shows short femur, tibia and fibula of the fetus.


Images 7, 8: 29 weeks; the images show sagittal scan of the narrow fetal thorax and protruding abdomen.


Images 9, 10: 29 weeks; the image 9 shows transverse scans at the level of the narrow thorax and at the level of normally sized abdomen. The image 10 shows polyhydramnios (left part of the image) and sagittal scan of the spine with flat vertebral bodies (right part of the image).


Images 11, 12: 29 weeks, the images show polyhydramnios.


Images 13, 14: 29 weeks, the image 13 represents a facial fetal profile with low nasal bridge. The image 14 shows 3D image of the fetal face. Slightly bulging eyes can be seen.


Images 15, 16: 29 weeks; the image 15 shows 3D image of the fetal face with bulging eyes. The image 16 shows 3D image of the fetus and its hand with short fingers.


Images 17, 18: 29 weeks, the image 17 shows narrow thorax of the fetus and protruding abdomen above the level of the thorax. The image 18 shows fetal leg with short femur and shank.



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