ArticleCase reports in perinatal medicine2024
Prenatal diagnosis of fetal neurogenic megacystis associated with lethal congenital contractural syndrome 2.
Article in Case reports in perinatal medicine, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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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.
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