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- Title
Genetic counseling in a case of congenital hemivertebrae.
- Authors
Alvarez de la Rosa, Margarita; Padilla Pérez, Ana Isabel; de la Torre Fernández de Vega, Francisco Javier; López García, Jorge; Troyano Luque, Juan Mario; Padilla Pérez, Ana Isabel; de la Torre Fernández de Vega, Francisco Javier; López García, Jorge
- 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.
- Subjects
CASE studies; SPINE abnormalities; SPONDYLOLISTHESIS; ULTRASONIC imaging; INGUINAL hernia; KARYOTYPES
- Publication
Archives of Gynecology & Obstetrics, 2009, Vol 280, Issue 4, p653
- ISSN
0932-0067
- Publication type
journal article
- DOI
10.1007/s00404-009-0969-4