Prenatal diagnosis of fetal neurogenic megacystis associated with lethal congenital contractural syndrome 2.
Publication/Presentation Date
1-1-2024
Abstract
OBJECTIVES: 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).
CASE PRESENTATION: We present two cases of LCCS2, a rare autosomal recessive disorder in the arthrogryposis multiplex spectrum of syndromes whose
CONCLUSIONS: 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.
Volume
13
Issue
1
First Page
20240024
Last Page
20240024
ISSN
2192-8959
Published In/Presented At
Hatjis, C. G., Sturtz, W. J., Taylor, J., Melchionna, E., & Brown, K. K. (2024). Prenatal diagnosis of fetal neurogenic megacystis associated with lethal congenital contractural syndrome 2. Case reports in perinatal medicine, 13(1), 20240024. https://doi.org/10.1515/crpm-2024-0024
Disciplines
Medicine and Health Sciences
PubMedID
40321344
Department(s)
Department of Pathology and Laboratory Medicine
Document Type
Article