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01-10-2009 | Case Report

Genetic counseling in a case of congenital hemivertebrae

Authors: Margarita Alvarez de la Rosa, Ana Isabel Padilla Pérez, Francisco Javier de la Torre Fernández de Vega, Jorge López García, Juan Mario Troyano Luque

Published in: Archives of Gynecology and Obstetrics | Issue 4/2009

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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Title: Genetic counseling in a case of congenital hemivertebrae
Authors: Margarita Alvarez de la Rosa
Ana Isabel Padilla Pérez
Francisco Javier de la Torre Fernández de Vega
Jorge López García
Juan Mario Troyano Luque
Publication date: 01-10-2009
Publisher: Springer-Verlag
Published in: Archives of Gynecology and Obstetrics / Issue 4/2009
Print ISSN: 0932-0067
Electronic ISSN: 1432-0711
DOI: https://doi.org/10.1007/s00404-009-0969-4

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Genetic counseling in a case of congenital hemivertebrae

Abstract

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