Three-dimensional ultrasound diagnosis of Larsen syndrome with further characterization of neurological sequelae

Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology
J C ShihF J Hsieh

Abstract

Larsen syndrome consists of skeletal dysplasia with multiple joint dislocations and a characteristic facies. The basis of this abnormality is a generalized mesenchymal disorder involving connective tissues. We describe our findings in a woman who was referred at 28 weeks' gestation due to multiple fetal anomalies suspected initially at an 18-week ultrasound examination. On three-dimensional (3D) ultrasound we found the fetus had bilateral genu recurvatum. Further 3D examination at 36 weeks confirmed the lower limb anomaly and revealed facial anomalies that led to the diagnosis of Larsen syndrome. An elective Cesarean section was performed at 38 weeks' gestation to minimize neurological sequelae. Magnetic resonance imaging was performed postnatally and showed pachygyria, colpocephaly and agenesis of the corpus callosum. In this case, 3D ultrasound facilitated the prenatal diagnosis of Larsen syndrome. A careful prenatal investigation for other associated anomalies such as those of the cardiovascular or neurological systems is warranted with this diagnosis. These associated lesions are likely to have a greater impact on prognosis than the classic symptoms of Larsen syndrome and a collaborative approach is necessary to optimize de...Continue Reading

References

Sep 1, 1977·Acta paediatrica Scandinavica·P HenrikssonG Theander
Jan 1, 1988·Pediatric Pulmonology·M J RockM E Peters
May 1, 1988·Clinical Genetics·C S StanleyJ H Miles
Feb 1, 1985·Acta Orthopaedica Scandinavica·K Jacobsen, F Vopalecky
Aug 1, 1995·Journal of Ultrasound in Medicine : Official Journal of the American Institute of Ultrasound in Medicine·N LewitM Bronshtein
Jun 7, 2000·Journal of Ultrasound in Medicine : Official Journal of the American Institute of Ultrasound in Medicine·T TongsongJ Sudasana
Oct 1, 1950·The Journal of Pediatrics·L J LARSENF C BOST

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Citations

Apr 8, 2006·Current Opinion in Obstetrics & Gynecology·Rabih Chaoui, Kai-Sven Heling
Jun 28, 2006·Journal of Medical Genetics·Louise S BicknellStephen P Robertson
Feb 3, 2016·Pediatric Radiology·Luis F Gonçalves
Mar 10, 2011·Pharmaceutical Biology·Yi-Gang YuHui Wu
Nov 23, 2005·Journal of Ultrasound in Medicine : Official Journal of the American Institute of Ultrasound in Medicine·Luís F GonçalvesRoberto Romero
Dec 14, 2004·Prenatal Diagnosis
Jul 28, 2006·Journal of Ultrasound in Medicine : Official Journal of the American Institute of Ultrasound in Medicine·Ana MonteagudoIlan E Timor-Tritsch

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