All affected patients present with respiratory distress at birth, secondary to motor nerve paralysis. Most of them are born preterm (58%) and have marked fetal akinesia (42%) with polyhydramnios (97%). Another classical finding is the absence of swallowing (58%). Arthrogryposis multiplex congenital is present in 42%, with a non-specific joint involvement. Hypotonia (87%) remains frequent. Magnetic Resonance Imaging (MRI) is non-specific and could reveal signs of hypomyelination and cerebral atrophy.
Fetal sonography can detect prenatal manifestations for LCCS7, such as fetal hypokinesia, abnormal positioning of the limbs and polyhydramnios that require therapeutic amniotic fluid reductions.
CNTNAP1