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Genetic counseling in a case of congenital hemivertebrae

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Abstract

A case of in utero spondylothoracic dysostoses is diagnosed during a routine third trimester ultrasound scan in a low-risk patient. Ultrasound showed spine deformation, hemivertebrae and crab-like ribs. The newborn had no other associated anomalies except inguinal hernia, and karyotype was normal. Bidimensional and 3-4D ultrasound imaging as well as radiograph of the fetus and photos of the newborn are presented and discussed. Sporadic cases are difficult to diagnose and classify, as they are probably due to genetic heterogenicity. Sporadic cases of hemivertebrae are rare and not always lethal. Fetal ultrasound scan findings can help predict prognosis, enabling the parents’ informed decision making.

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Acknowledgment

Doctors Garces and Sabate (Physiotherapy Service) are acknowledged for help and suggestions.

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Authors and Affiliations

  1. Ultrasound Unit, Department of Obstetrics and Gynecology, Canary Islands University Hospital, La Laguna University, 38320, La Laguna, Tenerife, Canary Islands, Spain

    Margarita Alvarez de la Rosa, Ana Isabel Padilla Pérez, Francisco Javier de la Torre Fernández de Vega & Juan Mario Troyano Luque

  2. Department of Radiology, Canary Islands University Hospital, La Laguna University, 38320, La Laguna, Tenerife, Canary Islands, Spain

    Jorge López García

Authors
  1. Margarita Alvarez de la Rosa
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  2. Ana Isabel Padilla Pérez
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  3. Francisco Javier de la Torre Fernández de Vega
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  4. Jorge López García
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  5. Juan Mario Troyano Luque
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Correspondence to Margarita Alvarez de la Rosa.

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Alvarez de la Rosa, M., Padilla Pérez, A.I., de la Torre Fernández de Vega, F.J. et al. Genetic counseling in a case of congenital hemivertebrae. Arch Gynecol Obstet 280, 653–658 (2009). https://doi.org/10.1007/s00404-009-0969-4

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  • DOI: https://doi.org/10.1007/s00404-009-0969-4

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