Thanatophoric dysplasia: case presentation

Authors

  • Julio Angel Quintana González Centro de Salud Comunitario Copacabana, El Alto La Paz. Bolivia
  • Reinerio Rubio Rojas Centro Salud Quito, Ecuador

Keywords:

THANATOPHORIC DYSPLASIA, PREGNANCY, DWARFISM.

Abstract

Introduction:  thanatophoric dysplasias are characterized by narrow thorax with platyspondyly (flattening of vertebral bodies) and short limbs.


Clinical case: a case of lethal skeletal dysplasia is presented in one of the varieties known as type I thanatophoric dysplasia. A 32-year-old female with 22 weeks of gestation came to the ultrasound service at Copacabana Health Center in Alto, La Paz to perform ultrasound screening, where a male fetus with shortening of long bones in handset-phone shape, short fingers and narrow chest in relation to the abdomen were observed.

 

Conclusions: type I thanatophoric dysplasia was confirmed, genetic counseling was given and pregnancy termination was decided as a fetal abnormality incompatible with life.

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Author Biographies

Julio Angel Quintana González, Centro de Salud Comunitario Copacabana, El Alto La Paz. Bolivia

Especialista 2do grado ginecología y obstetricia. Profesor asistente y master en atención a la mujer

Reinerio Rubio Rojas, Centro Salud Quito, Ecuador

Especialista 1er grado ginecología y obstetricia, máster en atención a la mujer, profesor asistente

References

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Published

2017-03-07

How to Cite

1.
Quintana González JA, Rojas RR. Thanatophoric dysplasia: case presentation. Rev Ciencias Médicas [Internet]. 2017 Mar. 7 [cited 2025 Aug. 1];21(1):136-40. Available from: https://revcmpinar.sld.cu/index.php/publicaciones/article/view/2728

Issue

Vol. 21 No. 1 (2017)

Section

CASE REPORTS

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