Overgrowth syndromes are a heterogeneous group of conditions characterized by excessive body growth - localized or generalized - commonly associated with various malformities and an increased oncological risk. Here we present the case of a 59-years old man, employed in an office, who suffers from an asymmetric overgrowth of the lower limbs. Currently the patient presents malformations of the lower left limb (hip, knee and ankle), evident on the articular and periarticular level, where there are diffuse exostoses. This case discusses the main occupational concerns relating to the patient's workspace at a high floor level that could create critical issues in the event of an emergency exodus. Given the impossibility of placing the patient in heavy manual activities, employment is limited to office activities. Adjustments were carried out at the patient's workstation, and thus the patient has been recognized as fit to work. Increased frequency of breaks were prescribed in order to allow the physiological alternation of postures. In cases of overgrowth syndromes, the exact identification of the limitations presented by the patient and observations about ambulatory functions must be carefully evaluated in order to modulate the work environment.
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http://dx.doi.org/10.12688/f1000research.21348.2 | DOI Listing |
World J Clin Cases
January 2025
Shanghai XiRong Information Science and Technology Co., Ltd, National Science and Technology Park, School of Life Sciences and Technology, Tongji University, Shanghai 200092, China.
Sotos syndrome is characterized by overgrowth features and is caused by alterations in the gene. Attention-deficit/hyperactivity disorder (ADHD) is considered a neurodevelopment and psychiatric disorder in childhood. Genetic characteristics and clinical presentation could play an important role in the diagnosis of Sotos syndrome and ADHD.
View Article and Find Full Text PDFBMJ Open
December 2024
INSERM UMR1231 Génétique des Anomalies du Développement (GAD), Université de Bourgogne, Dijon, France.
Introduction: The megalencephaly capillary malformation polymicrogyria (MCAP syndrome) results from mosaic gain-of-function variants. The main clinical features are macrocephaly, somatic overgrowth, neurodevelopmental delay and brain anomalies. Alpelisib (Vijoice) is a recently FDA-approved PI3Kα-specific inhibitor for patients with PIK3CA-related overgrowth spectrum (PROS).
View Article and Find Full Text PDFMinerva Gastroenterol (Torino)
January 2025
Houston Methodist Hospital and Weill Cornell Medical College, Lynda K and David M Underwood Center for Digestive Disorders, Houston, TX, USA -
Small intestinal bacterial overgrowth (SIBO) was originally described as a cause of maldigestion and malabsorption in situations where disruptions of intestinal anatomy or physiology favored the proliferation of bacteria normally confined to the colon. In this context, the pathogenesis of symptoms resulting from SIBO was well described. More recently, the concept of SIBO was extended to explain symptoms such as bloating, altered bowel habit and discomfort among individuals with irritable bowel syndrome and since then a whole host of gastrointestinal and extragastrointestinal disorders have been attributed to SIBO.
View Article and Find Full Text PDFClin Neurol Neurosurg
January 2025
Case Western Reserve University School of Medicine, Cleveland OH, United States; Depart of Neurosurgery, University Hospitals Cleveland Medical Center, Cleveland OH, United States. Electronic address:
J Craniofac Surg
January 2025
Division of Plastic Surgery, Department of Surgery, Dalhousie University.
Introduction: Macroglossia is a frequent clinical feature of Beckwith-Wiedemann syndrome (BWS), a congenital overgrowth disorder. Macroglossia can lead to abnormal breathing, feeding, speech, and dentoskeletal development. Partial glossectomy is a common intervention aimed at reducing these abnormalities.
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