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Prenatal Diagnosis of Proteus Syndrome: About a Case.
Am J Med Genet A
December 2024
Constitutional Genetics Laboratory, CHU Amiens Picardie, Amiens, France.
Proteus syndrome (PS) is a rare disorder (< 1/1000000), marked by progressive overgrowth commonly impacting the skeleton, skin, adipose tissue, and central nervous system. Clinical criteria were established in 2019. PS arises from a somatic activating variation in the AKT1 gene.
View Article and Find Full Text PDFTumour spectrum in -related Proteus syndrome: a systematic review of clinical reports and series.
J Med Genet
December 2024
Center for Precision Health Research, National Human Genome Research Institute, Bethesda, Maryland, USA
-related Proteus syndrome is an ultra-rare mosaic overgrowth disorder with tumour predisposition. We conducted a systematic review to determine the range and characteristics of these tumours. A systematic review was conducted to identify clinical reports and clinical series of Proteus syndrome published between 1983 and 2023.
View Article and Find Full Text PDFProteus syndrome: A rare case report.
Asian J Surg
December 2024
Department of Neurosurgery, Sanbo Brain Hospital, Beijing, China. Electronic address:
Management of Children with Megafoot Secondary to Proteus Syndrome: A Report of Three Cases with Long-Term Follow-Up.
J Am Podiatr Med Assoc
November 2024
*Department of Orthopaedics and Traumatology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
Background: Proteus syndrome is a rare disorder characterized by overgrowth of limbs and organs and neurocutaneous findings.
Methods: We examined three Proteus syndrome cases with unilateral foot enlargement, megafoot. The patients had ambulatory and cosmetic difficulties.
Intraspinal lipomatous neurofibroma in a child with atypical Proteus syndrome.
Childs Nerv Syst
December 2024
Department of Neurological Surgery, New Jersey Pediatric Neuroscience Institute, 131 Madison Ave 3rd Floor, Morristown, NJ, 07960, USA.
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