Neu-Laxova syndrome, grossly appearing normal on 20 weeks ultrasonographic scan, that manifested late in pregnancy: a case report.

INTRODUCTION

Neu-Laxova syndrome (NLS) is a very rare and extremely lethal syndrome almost always inherited by autosomal recessive pattern.

CASE PRESENTATION: A 21-year-old G2 P1 L0 Turkish woman was first seen at 18 weeks of gestation in antenatal policlinic. On ultrasound examination performed at 20 weeks of gestation for excluding gross abnormalities showed no abnormality and biometry of the fetus was concordant with date of gestation. She stopped follow-up after then. The woman were presented to emergency unit with a complaint of absent fetal movements at 38 weeks of gestation. Multiple abnormalities consistent with NLS have been seen on sonography. Nonvisible gastric cavity was also seen on sonography. Postmortem examination by genetics specialists confirmed the diagnosis of NLS.

CONCLUSION

Neu-Laxova syndrome must be monitored continuously from the beginning of gestation to third trimester via serial ultrasonographies that is focused on previously described features of syndrome especially for consanguineous couples with or without a previous affected fetus.