This case report presents a 3-year-old female child diagnosed with 2q37 deletion syndrome and patent foramen ovale, and the improvement in hypotonia and gross motor delay after 1 year of physical therapy. This case highlights the importance of thorough examination and diagnostic testing in identifying underlying causes of developmental delays.
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10658514 | PMC |
http://dx.doi.org/10.1002/ccr3.6970 | DOI Listing |
Taiwan J Obstet Gynecol
November 2024
Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.
Cell J
October 2024
Department of Genetics, Faculty of Advanced Science and Technology, Tehran Medical Sciences, Islamic Azad University, Tehran, Iran.
Cardiol Young
October 2024
Department of Thoracic and Cardiovascular Surgery, Hirosaki University School of Medicine, Hirosaki, Aomori, Japan.
Am J Med Genet A
January 2025
Division of Medical Genetics, Department of Medicine, University of Washington School of Medicine, Seattle, Washington, USA.
In 1971, Ruvalcaba and colleagues reported a new syndrome in two brothers with severe intellectual disability, dysmorphic features, osseous dysplasia, and overlapping features in two intellectually disabled female maternal first cousins. No genetic cause was identified. We report on updated genomic studies and clinical follow-up in this family, including one of the original probands and their niece, whose own lifelong diagnostic odyssey had been unresolved for over four decades.
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March 2024
Helmholtz Institute for Metabolic, Obesity and Vascular Research (HI-MAG) of the Helmholtz Zentrum München at the University of Leipzig and University Hospital Leipzig, Leipzig, Germany.
Obesity is known as a heterogeneous and multifactorial disease. The distribution of body fat is crucial for the development of metabolic complications. Comprehensive genetic analyses on different fat tissues are rare but necessary to provide more detailed information.
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