Recurrent Neu-Laxova syndrome in subsequent pregnancies: a case report and implications for genetic counselling

Abstract

Neu-Laxova syndrome (NLS) is a rare and lethal disorder with numerous congenital
anomalies. This rare disorder is characterised by heterogeneous neurodevelopmental defects,
which involves various systems starting from the CNS, musculoskeletal, skin, limb defects etc.
we present the case of a patient whose first pregnancy was a congenitally malformed fetus
suspected with Neu-Laxova syndrome during her second trimester ultrasound. The ultrasound diagnosis was confirmed with a genetic study of the amniotic fluid. The results showed a variant of PHGDH gene mutatuon in apparent homozygosis associated with NLS-1 syndrome of autosomal recessive inheritance. The couple presented to us with second pregnancy and the present fetus showed recurrences of the previous outcome on ultrasound. Here we are presenting the detailed sonographic, clinical and genetic examination of the above cases with the discussion.