Three-dimensional ultrasound diagnosis of Larsen syndrome with further characterization of neurological sequelae
Journal
Ultrasound in Obstetrics and Gynecology
Journal Volume
24
Journal Issue
1
Pages
89-93
Date Issued
2004
Author(s)
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 delivery and postnatal management of an affected fetus. Copyright ? 2004 ISUOG. Published by John Wiley & Sons, Ltd.
SDGs
Other Subjects
adult; agenesis and aplasia; article; bone dysplasia; case report; cesarean section; corpus callosum; disease course; elective surgery; face malformation; female; fetus echography; functional assessment; gestational age; human; Larsen syndrome; limb malformation; nuclear magnetic resonance imaging; pachygyria; patient referral; perinatal period; prenatal diagnosis; priority journal; three dimensional imaging; Adult; Anterior Cruciate Ligament; Brain; Collagen Diseases; Dislocations; Female; Fetal Diseases; Humans; Imaging, Three-Dimensional; Joint Diseases; Magnetic Resonance Imaging; Patella; Posterior Cruciate Ligament; Pregnancy; Syndrome; Tibia; Ultrasonography, Prenatal
Type
journal article