The Gorlin (naevoid basal cell carcinoma) syndrome is an autosomal dominant disorder consisting principally of naevoid basal cell carcinomas, odontogenic keratocysts, skeletal abnormalities, and intracranial calcification. We report the prenatal detection of the Gorlin syndrome by ultrasonography in a fetus with macrocephaly and mild ventriculomegaly.
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http://dx.doi.org/10.1002/pd.1970140813 | DOI Listing |
J Dent Res
January 2025
State Key Laboratory of Oral & Maxillofacial Reconstruction and Regeneration, Key Laboratory of Oral Biomedicine Ministry of Education, Hubei Key Laboratory of Stomatology, School & Hospital of Stomatology, Wuhan University, Wuhan, China.
Odontogenic keratocyst (OKC) and ameloblastoma (AM) are common jaw lesions with high bone-destructive potential and recurrence rates. Recent advancements in technology led to significant progress in understanding these conditions. Single-cell and spatial omics have improved insights into the tumor microenvironment and cellular heterogeneity in OKC and AM.
View Article and Find Full Text PDFJ Med Case Rep
January 2025
Department of Dermatology and Venereology, Faculty of Medicine, University of Aleppo, Aleppo, Syria.
Background: Basal cell nevus syndrome, also known as Gorlin or Gorlin-Goltz syndrome, is a hereditary condition caused by mutation in the PATCHED gene. The syndrome presents with a wide range of clinical manifestations, including basal cell carcinomas, jaw cysts, and skeletal anomalies. Diagnosis is based on specific criteria, and treatment typically includes surgical removal of basal cell carcinomas.
View Article and Find Full Text PDFJ Med Genet
December 2024
John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida, USA
Introduction: Nevoid basal cell carcinoma syndrome (NBCCS) is a rare autosomal dominant disorder classically associated with multiple basal cell carcinomas, odontogenic keratocysts and skeletal anomalies. However, its significant phenotypic heterogeneity often delays the diagnosis. Here, we undertake the first comprehensive characterisation of NBCCS and congenital urinary tract anomalies.
View Article and Find Full Text PDFJ Dermatol
December 2024
Department of Dermatology, Kochi Medical School, Kochi University, Kochi, Japan.
Sci Rep
December 2024
Department of Anthropology, Faculty of Biology and Environmental Protection, University of Lodz, Banacha Str. 12/16, Łódź, 90-237, Poland.
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