Antenatal diagnosis of larsen syndrome

Larsen Syndrome

“…[3][4][5]7,8,15,24 Many of the features that have been documented and reported prenatally include prominent forehead, flattened faces, micrognathia, hypertelorism, depressed nasal bone and cleft palate, [3][4][5]7,8,31 club feet, 2 and dislocations of the hips, elbows, and knees (anterior luxation). [3][4][5][6][7][8]15,17,24,31 Other prenatal sonographic findings such as hydrocephalus, oligohydramnios, ventricular septal defects, and agenesis of the corpus callosum have also been reported. 21,24,25 Even though, in this case, the prenatal diagnosis of Larsen syndrome was suspected by the utilization of 2D sonography, the use of 3D sonography would have allowed a better visualization of the fetal facial features as well as a more detailed view of the limb defects and enhanced the diagnosis.…”

“…Most authors believe that the anterior dislocation of the knees can be considered the cardinal feature of this syndrome, which correlates with the findings in this case. 3,[5][6][7]12,16,31,33 Postnatally, children with Larsen syndrome may require aggressive orthopedic management 7 ; may have frequent respiratory complications, hypotonia, and epilepsy (due to focal cortical dysplasia) 7,24 ; or may lead productive lives with normal fertility. 8 Death has also been reported in neonates with this syndrome due to cardiopulmonary arrest resulting from cervical spine instability.…”