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Articles » Skeletal » Thanatophoric dysplasia » Thanatophoric dysplasia, Type I
2010-10-27-8 Thanatophoric dysplasia, type I © Sanchez www.TheFetus.net
Thanatophoric dysplasia, type I

Marcos Antonio Velasco Sanchez, MD*, Jhonatan Astudillo Ibarrondo, MD.*, Jose Luis Abarca Abarca, MD.*, Arely Valtierra Mendoza, MD.**, Alejandra San Roman Osorio**, MD., Itzel Zavala Flores, MD.**

*  Departamento de Investigacion Prenatal y Obstetrica, Hospital General Donato G Alarcon de Ciudad Renacimiento, S.S.A. Acapulco Guerrero, Mexico, Facultad de Medicina de la   U.A.G., Mexico.
** Departamento de Pediatria - Perinatologia,
Hospital General Donato G Alarcon de Ciudad Renacimiento, S.S.A. Acapulco Guerrero, Mexico, Facultad de Medicina de la   U.A.G., Mexico.

Case report

This is a case of a-27-year-old G1 P0 who was referred to our department at 26 weeks of gestation.
The ultrasound findings were following:

  • Enlarged cranium, bulging forehead, depressed nasal bridge
  • Narrow thorax, protuberant abdomen
  • Micromelic shortening of all extremities, extreme rhizomelia - humerus and femur
  • Hydrocephalus,
  • Platyspondyly
  • Short fingers

Our diagnosis based on the ultrasound findings was lethal skeletal dysplasia, probably Thanatophoric dysplasia, type I. The absence of craniosynostosis ruled out Thanatophoric dysplasia, type II.

Patient delivered at 35 weeks of gestation. The clinical examination of the neonate showed facial features and extreme micromelia typical for Thanatophoric dysplasia, type I. Neonate had severe respiratory difficulties due to pulmonary hypoplasia and died 6 hours after delivery. Pathologist confirmed our diagnosis.

Images 1,2: Image 1 shows an axial view of the fetal brain with severe hydrocephalus. Image 2 shows a sagittal view of the head, note bulging forehead, depressed nasal bridge.

 

Images 3,4: 26 weeks, Image 3 shows ulna, it's length corresponding with 14 weeks. Image 4 shows femur.



Images 5,6: Markedly shortened humerus bones.



Image 7: Sagittal view, note small thorax and protuberant abdomen.

 

Videos 1,2: Video 1 shows axial view of the fetal head, note severe hydrocephalus. Video 2 shows narrow thorax and protuberant abdomen.



Video 3,4
: Video 3 shows fetal profile with typical features, bulging forehead, depressed nasal bridge. Video 4 shows markedly shortened bones and broadened metaphysis.



Images 8-11: Pictures of the neonate after delivery. Note typical facial features, small thorax and extremely shortened extremities.

 




 
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