Turner syndrome is one of the most common chromosomal disorders. The incidence is about 1 on 2,500 till 1 on 10,000 living female young births. Short stature is the most common finding in patients with Turner syndrome. Besides short stature and gonadal dysgenesis, typical craniofacial and dental features are also present. Disturbance of the enchondral ossification results in abnormal craniofacial morphology. Oestrogen medication, to induce their puberty, and recombinant human growth therapy, to improve final height of these patients, are the most common treatment possibilities. It is the intention of this short paper to inform the dentist/orthodontist about the general aspects of the Turner syndrome. This information can be used in their treatment plan.
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Acta Endocrinol (Buchar)
January 2025
Bursa Uludag University, School of Medicine, 1Department of Pediatric Endocrinology.
Turner syndrome is the most common sex chromosomal abnormality in about 1:2000-2500 live female births. While short stature and delayed puberty are the most common presentations of patients, atypical findings can also be seen. In this article, we present the Turner twins, who were diagnosed during inguinal hernia surgery when bilateral uterus and ovaries were found within the hernia sac.
View Article and Find Full Text PDFHand Surg Rehabil
January 2025
Neurology Department, CHU de Bicêtre, AP-HP, Le-Kremlin-Bicêtre, France; French National Reference Center for Rare Neuropathies, Le-Kremlin-Bicêtre, France.
Am J Med Genet C Semin Med Genet
January 2025
Cincinnati Children's Hospital Medical Center, Cincinnati, USA.
Health care transition is a process by which children with chronic medical conditions gradually and purposefully move from pediatric to adult-centered health care systems. While transition guidelines have been published by multiple national and international organizations, transition processes have not been optimized for many populations, including youth with Turner syndrome (TS). Numerous barriers exist, at both the system and individual/family level.
View Article and Find Full Text PDFGenomic studies of autism and other neurodevelopmental disorders have identified several relevant protein-coding and noncoding variants. One gene with an excess of protein-coding variants is that also is the gene underlying the Hypotonia, Ataxia, and Delayed Development Syndrome (HADDS). In previous work, we have identified noncoding variants in an enhancer of called hs737 and further showed that there was an enrichment of deletions of this enhancer in individuals with neurodevelopmental disorders.
View Article and Find Full Text PDFJ Pediatr Nurs
January 2025
William F. Connell School of Nursing, Boston College, Chestnut Hill, MA 02467, United States of America. Electronic address:
Genomics is a lifespan competency that has relevance for pediatric nursing practice. Identifying individuals who could benefit from genomic healthcare can enable timely diagnosis and treatment to improve health and wellbeing outcomes. Nurse practitioners (NPs) must have genomic competency to provide high quality, comprehensive pediatric care and support families through the continuum of care.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!