Congenital lingual cysts are rare congenital tumors of the oropharynx, which should be suspected when the tongue appears enlarged by a mass. Prenatal diagnosis by ultrasound allows for an optimal management at the time of delivery because the mass can obstruct the airways. Unless the cyst enlarges and hinders feeding or breathing, surgical treatment is indicated only a few months after birth because spontaneous regression can sometimes be observed.
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http://dx.doi.org/10.1016/j.jpedsurg.2007.01.060 | DOI Listing |
Natl J Maxillofac Surg
November 2024
Department of Oral and Maxillofacial Surgery, Mamata Dental College, Khammam, Telangana, India.
Ectopic thyroid is a rare congenital anomaly that results from failure of decent from the foramen cecum to the primitive thyroid during the stage of embryogenesis. The specific prevalence ranges from 1 in 100,000-300,000 population. Development, genetics, and mutation play a role in the formation of ectopic thyroid.
View Article and Find Full Text PDFCureus
January 2025
College of Dentistry, King Saud University, Riyadh, SAU.
Oral melanocytic nevi (OMN) are rare benign tumors originating from melanocytes with an unclear pathogenesis. The current theory suggests that OMN originate from dormant dendritic melanocytes that become enclosed in the dermis during the embryonic migration of melanoblasts - the precursors of melanocytes - from the neural crest to the epidermis. OMN can be congenital or acquired, with acquired nevi being more common.
View Article and Find Full Text PDFTunis Med
January 2025
University of Sfax, Military University Hospital of Sfax, Cardiology Department, Sfax, Tunisia.
Introduction: Nemaline myopathy (NM), also known as Nemalinosis, is a rare congenital muscle disease with an incidence of 1 in 50000. It is characterized by nemaline rods in muscle fibers, leading to muscle weakness. We reported a case of NM revealed by cardiac involvement, and we highlighted the challenges in diagnosing this condition as well as its poor prognosis.
View Article and Find Full Text PDFJ Clin Med
December 2024
The Department of Dentofacial Orthopaedics and Orthodontic, Wroclaw Medical University, 50-425 Wroclaw, Poland.
Ankyloglossia is a congenital, abnormally short, thickened, or tight lingual frenulum that restricts tongue mobility, which may impair the development of the lower face morphology, namely the occlusion and skeleton. The aim of this study was to evaluate whether and how the lingual frenotomy benefits the occlusion and lower face skeleton development. The authors, independently and in duplication, performed searches of PubMed, Cochrane Library, Medline, Web of Science, and Embase, introducing the following keywords: tongue tie, ankyloglossia, and short lingual frenum/frenulum, combined with malocclusion, lower face skeleton, and hyoid bone.
View Article and Find Full Text PDFEur J Med Genet
January 2025
Genetics Institute, Rambam Health Care Campus, Haifa, Israel; The Ruth and Bruce Rappaport Faculty of Medicine, The Technion, Haifa, Israel. Electronic address:
Background: Ulnar mammary syndrome (UMS) is an autosomal dominant disorder caused by heterozygous pathogenic variants in the T-box transcription factor 3 (TBX3) gene. The phenotype is classically characterized by upper limb defects and apocrine/mammary gland hypoplasia. Endocrine abnormalities include hypogonadotropic hypogonadism (HH), partial growth hormone deficiency and dysmorphic features, while ectopic pituitary gland and various congenital anomalies have also been described.
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