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Skeletal Dysplasia: A Case Report.
Diagnostics (Basel)
September 2023
Gynecology Department, Faculty of Medicine, Carol Davila University of Medicine and Pharmacy, 020021 Bucharest, Romania.
This paper presents a rare case of fetal hydrops detected at just 23 weeks of gestation in a 22-year-old woman's first pregnancy. The fetal ultrasound revealed severe skeletal anomalies, craniofacial deformities, and thoracic abnormalities, suggesting a complex and severe skeletal dysplasia, potentially type IA Achondrogenesis-a lethal autosomal recessive condition marked by ossification delay. This case highlights the significance of advanced genetic testing, such as next-generation sequencing (NGS) and whole-genome sequencing (WGS), in diagnosing and understanding skeletal dysplasias.
View Article and Find Full Text PDFSLC26A2/DTDST Spectrum: A Cohort of 12 Patients Associated with a Comprehensive Review of the Genotype-Phenotype Correlation.
Mol Syndromol
January 2023
Skeletal Dysplasia Group, Department of Translational Medicine, Faculty of Medical Sciences, University of Campinas, Campinas, Brazil.
Introduction: Pathogenic variants in the gene cause the following spectrum of phenotypes: achondrogenesis 1B (ACG1B), atelosteogenesis 2 (AO2), diastrophic dysplasia (DTD), and recessive-multiple epiphyseal dysplasia (rMED), the first 2 being lethal. Here, we report a cohort and a comprehensive literature review on a genotype-phenotype correlation of -related disorders.
Methods: The local patients were genotyped by Sanger sequencing or next-generation sequencing (NGS).
Recurrent achondrogenesis type 1A1 is due to allelic variant of the COL10A1 genéCOL10A1?
Cir Cir
February 2020
División de Medicina Molecular, Centro de Investigación Biomédica de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, Jalisco. México.
Recurrence of achondrogenesis type 2 in sibs: Additional evidence for germline mosaicism.
Am J Med Genet A
July 2010
Division of Pediatric Pathology, Department of Pathology, University of Utah, Utah, USA.
Achondrogenesis Type II (ACG2) is a lethal skeletal disorder caused by a dominant mutation in the type II collagen gene (COL2A1). Familial cases have been reported, suggesting both germline and somatic mosaicism. We report on two pregnancies from the same couple with gross, radiologic, and microscopic findings of ACG2.
View Article and Find Full Text PDF[Lethal osteo-chondro-dysplasia: feto-pathological study of 32 cases].
Tunis Med
February 2009
Service d'anatomie et cytologie pathologique, Hôpital Farhat Hached, Sousse.
Background: The lethal osteochondrodysplasias are rare, their prevalence is estimated at 1 per 10 000 births. Mostly have genetic determinism.
Aims: To describe the malformations and dysmorphic features in lethal osteochondrodysplasias
Methods: Our study involved 32 cases of lethal fetal Osteochondrodysplasias, collected over a period of 14 years in the pathological department of Sousse.
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