Congenital absence of the scaphoid without associated thumb or radial hypoplasia is a rare condition. This report is the third case presented in the literature of this condition. The case presented is of a patient who presented initially with wrist pain. Radiographs revealed a congenitally absent scaphoid and examination revealed no evidence of thumb hypoplasia. A brief review of the literature on congenital absence of the scaphoid is discussed.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/S0363-5023(97)80017-2 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Unlabelled: X-linked Lymphoproliferative Syndromes (XLP), which arise from mutations in the or genes, are characterized by the inability to control Epstein-Barr Virus (EBV) infection. While primary EBV infection triggers severe diseases in each, lymphomas occur at high rates with XLP-1 but not with XLP-2. Why XLP-2 patients are apparently protected from EBV-driven lymphomagenesis, in contrast to all other described congenital conditions that result in heightened susceptibility to EBV, remains a key open question.
View Article and Find Full Text PDFRelationship between pregnant women's combined exposure to heavy metals and their offspring's congenital heart defects in Lanzhou, China.
Front Pediatr
January 2025
Gansu University of Chinese Medicine, Lanzhou, Gansu Province, China.
Background: Previous research has demonstrated that exposure to individual heavy metals elevates the incidence rate of congenital heart defects (CHDs). However, there is a paucity of data concerning the relationship between combined exposure to multiple heavy metals and the occurrence of CHDs. This study seeks to investigate the association between combined heavy metal exposure in pregnant women and the incidence of CHDs in their offspring in Lanzhou, China.
View Article and Find Full Text PDFCase report: Multisystemic smooth muscle dysfunction syndrome: a rare genetic cause of infantile interstitial lung disease.
Front Pharmacol
January 2025
Respiratory Department II, National Clinical Research Center for Respiratory Diseases, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.
Multisystemic smooth muscle dysfunction syndrome (MSMDS) is an autosomal dominant disorder caused by mutations in the gene, resulting in variable clinical manifestation and multi-organ dysfunction. Interstitial lung disease (ILD) is a rare phenotype of this condition. We describe a rare infant case of an 8-month-old boy who presented with progressively worsening dyspnea, along with intermittent episodes of respiratory distress and cyanosis since birth.
View Article and Find Full Text PDFHeart Morphogenesis Requires Smyd1b for Proper Incorporation of the Second Heart Field in Zebrafish.
Genes (Basel)
January 2025
Department of Biological Sciences, University of Alberta, Edmonton, AB T6G 2E9, Canada.
Abnormal development of the second heart field significantly contributes to congenital heart defects, often caused by disruptions in tightly regulated molecular pathways. , a gene encoding a protein with SET and MYND domains, is essential for heart and skeletal muscle development. Mutations in SMYD1 result in severe cardiac malformations and misregulation of expression in mammals.
View Article and Find Full Text PDFCoexisting Congenital Mesoblastic Nephroma and Lissencephaly: Unique Case Report with Pathological Analysis and Its Clinical Significance.
Biomedicines
January 2025
Institute of Pathology "Dr. Ðorđe Joannović", Faculty of Medicine, University of Belgrade, 11000 Belgrade, Serbia.
Background: Congenital mesoblastic nephroma represents 3-10% of all pediatric renal tumors. With the advancement of ultrasound diagnostics and magnetic resonance imaging, the diagnosis of this renal neoplasm is increasingly being established prenatally and at birth. It usually presents as a benign tumor, but it can severely affect pregnancy outcomes, contributing to perinatal morbidity and mortality.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!