Pena-Shokeir syndrome is considered to be a fatal congenital condition that is rarely diagnosed in neonates. We present the first-ever reported case of Pena-Shokeir syndrome from Syria. Clinical assessment and early prenatal diagnosis are both needed to give the mother and baby more realistic options.
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http://dx.doi.org/10.1002/ccr3.6662 | DOI Listing |
BMC Med Genomics
June 2024
Women's Hospital, School of Medicine, Zhejiang University, No.1 Xueshi road, Shangcheng district, Hangzhou, 310006, Zhejiang, China.
Background: TTN is a complex gene with large genomic size and highly repetitive structure. Pathogenic variants in TTN have been reported to cause a range of skeletal muscle and cardiac disorders. Homozygous or compound heterozygous mutations tend to cause a wide spectrum of phenotypes with congenital or childhood onset.
View Article and Find Full Text PDFPrenat Diagn
July 2024
Department of Maternal-Fetal Medicine, Hospital Universitari Dr Josep Trueta, Girona, Spain.
We present a case of fetal akinesia deformation sequence due to nemaline myopathy (NM). In addition to the muscle manifestations, prenatal observations included an enlarged subarachnoid space and delayed cortical development. Trio whole-exome sequencing revealed a de novo novel pathogenic variant in the ACTA1 gene, which encodes skeletal muscle alpha-actin.
View Article and Find Full Text PDFClin Genet
June 2024
Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
Multiple congenital contractures (MCC) due to fetal akinesia manifest across a broad spectrum of diseases, ranging from mild distal arthrogryposis to lethal fetal akinesia deformation sequence. We hereby present a series of 26 fetuses displaying severe MCC phenotypes from 18 families and describe detailed prenatal ultrasound findings, postmortem clinical evaluations, and genetic investigations. Most common prenatal findings were abnormal facial profile (65%), central nervous system abnormalities (62%), polyhydramnios (50%), increased nuchal translucency (50%), and fetal hydrops (35%).
View Article and Find Full Text PDFSci Rep
January 2024
Laboratory Biology of the Cell Nucleus, Institute of Molecular Biology and Medicine, Université Libre de Bruxelles, 6041, Gosselies, Belgium.
Fetal akinesia deformation sequence (FADS) represents the severest form of congenital myasthenic syndrome (CMS), a diverse group of inherited disorders characterised by impaired neuromuscular transmission. Most CMS originate from defects in the muscle nicotinic acetylcholine receptor, but the underlying molecular pathogenesis is only poorly understood. Here we show that RNAi-mediated silencing of FADS-related proteins rapsyn and NUP88 in foetal fibroblasts alters organisation of the actin cytoskeleton.
View Article and Find Full Text PDFPrenat Diagn
December 2023
Maternal Fetal Medicine, The Gold Coast University Hospital, Southport, Queensland, Australia.
Fetal arthrogryposis is a well-recognised ultrasonographic phenotype, caused by both genetic, maternal and extrinsic factors. When present with fetal growth restriction, pulmonary hypoplasia and multiple joint contractures, it is often referred to as fetal akinesia deformation sequence (FADS). Historically, elucidating genetic causes of arthryogryposis/FADS has been challenging; there are now more than 150 genes known to cause arthrogryposis through myopathic, neuromuscular and metabolic pathways affecting fetal movement.
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