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A family with an atypical presentation of TBX3-related disorder.
Eur J Med Genet
January 2025
Genetics Institute, Rambam Health Care Campus, Haifa, Israel; The Ruth and Bruce Rappaport Faculty of Medicine, The Technion, Haifa, Israel. Electronic address:
Background: Ulnar mammary syndrome (UMS) is an autosomal dominant disorder caused by heterozygous pathogenic variants in the T-box transcription factor 3 (TBX3) gene. The phenotype is classically characterized by upper limb defects and apocrine/mammary gland hypoplasia. Endocrine abnormalities include hypogonadotropic hypogonadism (HH), partial growth hormone deficiency and dysmorphic features, while ectopic pituitary gland and various congenital anomalies have also been described.
View Article and Find Full Text PDFA dual dimensional optimization strategy for automatic osteotomy preoperative planning in congenital radioulnar synostosis.
Sci Rep
December 2024
Department of Hand Surgery, Beijing Jishuitan Hospital, Capital Medical University, Beijing, China.
Congenital radioulnar synostosis (CRUS) presents a complex forearm deformity, requiring precise osteotomy planning for anatomical restoration. This study proposes an automatic osteotomy preoperative planning method for forearms with CRUS. Proximal forearm bones are first aligned with the template forearm and then a dual dimensional optimization (DDO) strategy is used to optimize the spatial transformation parameters of the distal fragment.
View Article and Find Full Text PDFRotational osteotomy of forearm bones for treatment of congenital radioulnar synostosis in children.
J Orthop Surg Res
December 2024
The First Affiliated Hospital of Guangxi Medical University, 6 Shuangyong Road, Nanning, Guangxi, China.
Background: Congenital radioulnar synostosis (CRUS) is a rare upper limb deformity characterized by impaired rotational movement of the forearm. Rotational osteotomy is a commonly employed surgical procedure for treatment. This study aimed to analyze its surgical efficacy in treating CRUS in children.
View Article and Find Full Text PDFRadiographic Characteristics of the Triphalangeal Thumb in Patients With Congenital Thumb Duplication: An Analysis of 383 Thumbs in 368 Children.
J Hand Surg Am
December 2024
Department of Pediatric Orthopaedics, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangdong Provincial Clinical Research Center for Child Health, Guangzhou, China. Electronic address:
Purpose: The purpose of this study was to evaluate the morphologic and radiographic characteristics of the triphalangeal thumb (TPT) in patients with congenital thumb duplication.
Methods: We retrospectively reviewed 368 children with TPT duplication (n = 383). Data on age, sex, and laterality were obtained from medical records.
Bilateral ulnar longitudinal deficiency with oligodactyly in newborn.
Rev Paul Pediatr
December 2024
Hospital do Servidor Público Municipal, São Paulo, SP, Brazil.
Objective: The objective of this study was to report a case of bilateral ulnar longitudinal deficiency with oligodactyly in a male newborn.
Case Description: A full-term male newborn, born following an uncomplicated gestation with no abnormalities detected on prenatal ultrasounds, presented upper limb malformations described as shortening of the left forearm and absence of three digits bilaterally upon neonatal physical examination. Diagnostic investigations including X-rays, abdominal ultrasound, head ultrasound, echocardiogram, and karyotype analysis were conducted, facilitating detailed identification of the malformations and exclusion of other anomalies, thereby suggesting the diagnosis of congenital longitudinal deficiency of the ulna.
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