# Prenatal diagnosis of fetal neurogenic megacystis associated with lethal congenital contractural syndrome 2

## TL;DR

This paper reports the first prenatal diagnosis of a rare genetic disorder, LCCS2, in two siblings outside of the Israeli-Bedouin population, highlighting its clinical and diagnostic challenges.

## Contribution

The first prenatal diagnosis of LCCS2 in non-Israeli-Bedouin cases and the observation of phenotypic variability in clinical outcomes.

## Key findings

- LCCS2 can occur in populations beyond the Israeli-Bedouin community.
- Prenatal diagnosis of LCCS2 is possible and reveals nonobstructive, neurogenic megacystis as a key feature.
- The cases show variability in clinical outcomes and emphasize the need for multidisciplinary care and shared decision-making.

## Abstract

To describe the prenatal diagnosis, unique clinical features, clinical and genetic evaluation, and the pregnancy and neonatal course of two siblings affected by Lethal Congenital Contractural Syndrome 2 (LCCS2).

We present two cases of LCCS2, a rare autosomal recessive disorder in the arthrogryposis multiplex spectrum of syndromes whose sine qua non feature is the presence of nonobstructive, neurogenic megacystis. The prenatal diagnosis of this syndrome has not been previously reported. This syndrome has been previously studied in detail in an Israeli-Bedouin kindred but it has not been reported in the Americas.

These two cases illustrate the diagnostic and therapeutic dilemmas associated with this rare genetic abnormality. LCCS2 can be seen in other patient populations besides Israeli-Bedouin. They also suggest the presence of phenotypic variability in the clinical outcomes. Finally, they underscore the need for specialized diagnostic capabilities, the involvement of multidisciplinary teams to support challenging family situations, and the need for shared decision-making.