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Prenatal diagnosis of chromothripsis causing complex chromosomal rearrangement involving chromosomes 5, 7 and 11 leading to TWIST1 deletion and Saethre-Chotzen syndrome.
Taiwan J Obstet Gynecol
January 2025
Gynecology and Obstetrics Clinic "Narodni front", Belgrade, Serbia; Faculty of Medicine, University of Belgrade, Belgrade, Serbia.
Objective: Prenatal detection of complex chromosomal rearrangements (CCR) is extremely rare, but is of great clinical importance, since CCR can be causative of different congenital disorders. We present an exceptionally rare case of prenatally diagnosed Saethre-Chotzen syndrome (SCS) rising as a consequence of chromothripsis involving chromosomes 5, 7 and 11 and deletion of TWIST1 gene.
Case Report: Brachycephaly, hypertelorism, flat face, micrognathia, relative macroglossia and small posterior fossa were noted on ultrasound examination at 28th gestational week.
Surgical treatment of craniofacial cleft and orbital hypertelorism: a single-center cohort study.
Neurosurg Focus
January 2025
3ENT and Head and Neck Research Center and Department, The Five Senses Health Institute, School of Medicine, Iran University of Medical Sciences, Tehran, Iran.
Objective: Craniofacial clefts, characterized by congenital disruptions in the development of facial and cranial tissues, often present alongside orbital hypertelorism (ORH), an abnormal increase in the interorbital distance. These conditions pose significant challenges in craniofacial surgery due to the complex anatomical and functional considerations involved. This single-center cohort study retrospectively analyzed 22 patients diagnosed with craniofacial cleft syndromes and ORH who were treated at the Craniofacial Centre, Fatima Plastic and Reconstructive Surgery Hospital between July 2016 and October 2023.
View Article and Find Full Text PDFAssociations Between Maternal Periconceptional Alcohol Consumption and Risk of Craniosynostosis Among Offspring, National Birth Defects Prevention Study, 1997-2011.
Birth Defects Res
December 2024
Birth Defects Registry, New York State Department of Health, Albany, New York, USA.
Background: Previous studies of maternal alcohol consumption and craniosynostosis have reported null or inverse associations. We updated a previous analysis of National Birth Defects Prevention Study (NBDPS) data to further examine associations between maternal alcohol consumption and craniosynostosis.
Methods: NBDPS was a multi-site, population-based case-control study.
Evaluation of Situs Inversus Combined With Plastic Surgery-Related Malformations in a Chinese Clinic Population.
Ann Plast Surg
February 2025
Department of Medical Laboratory.
Background: Situs inversus is a congenital malformation that occurs in one or multiple organs simultaneously and can be accompanied by malformations in other body parts. We analyzed the prevalence and phenotype of patients with situs inversus and comorbidities associated with other plastic surgery-related malformations to enhance the knowledge of its related disorders and facilitate treatment.
Methods: We recruited patients with situs inversus who were seen at our institution from February 2015 to July 2023.
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