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Epidemiology of Congenital Hand Anomalies at a Single Center in Mainland China: An Analysis of 1,415 Cases.
J Hand Surg Asian Pac Vol
February 2025
Department of Hand Surgery, Clinical and Research Center for Congenital Hand Deformities and Rare Diseases, Beijing Jishuitan Hospital, Capital Medical University, Beijing, China.
Currently, large-sample epidemiological studies on congenital upper limb differences (CULD) in China are relatively rare. This report presents our centre's experience on the spectrum of diseases and related factors. Information was collected from patients with CULD who underwent surgical treatment at our centre from September 2018 to October 2023.
View Article and Find Full Text PDFPatterns of Co-Occurring Birth Defects in Chinese Infants With Congenital Diaphragmatic Hernia: A National Hospital-Based Surveillance Study.
Birth Defects Res
January 2025
National Center for Birth Defects Monitoring, West China Second University Hospital, Sichuan University, Chengdu, China.
Background: The landscape of co-occurring birth defects among infants with congenital diaphragmatic hernia (CDH) remains underexplored.
Aims: This study aims to elucidate the complex patterns of co-occurring defects in Chinese population.
Materials And Methods: We analyzed cases from the Chinese Birth Defects Monitoring Network (2007-2019) with CDH that presented along with at least one additional defect but without a syndromic diagnosis.
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.
Skin Graftless Dorsal Metacarpal Island VY Advancement Flap vs. Dorsal Rectangular Flap with Skin Grafting in 213 Simple Syndactyly Releases.
Plast Reconstr Surg
December 2024
Division of Plastic and Reconstructive Surgery, Department of Surgery, Spencer Fox Eccles School of Medicine at the University of Utah and Intermountain Primary Children's Hospital, Salt Lake City, UT, USA.
Background: Simple syndactyly is a common congenital upper extremity difference. Traditional reconstructive approaches utilize skin grafts; however, recent studies suggest skin graftless techniques may improve outcomes. We hypothesized that patients who underwent reconstruction with a skin graftless dorsal metacarpal island VY advancement flap would have fewer postoperative complications compared to those released with a dorsal rectangular flap with skin grafts.
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