Craniofacial morphology of patients with nevoid basal cell carcinoma syndrome (NBCCS) has sometimes been reported at clinical examination, but any investigation has described it on the basis of cephalometric measurements.The purpose of this study was to conduct a cephalometric analysis of patients with NBCCS and to compare measurements with non-NBCCS subjects of similar ages, to elucidate if there is any relationship between NBCCS and craniofacial morphology.The study population consisted of 14 adult patients (9 men and 5 women), ranging in age from 18.2 to 56.8 years, with the diagnosis of NBCCS, with good-quality lateral cephalometric radiographs, and 14 adult healthy patients matched for age and sex to the NBCCS group. Cephalometric measurements were carried out on radiographs, and measurements of angles and distances were performed.Statistical differences between NBCCS subjects and controls were observed. Data analysis displayed that the measurements of the anterior cranial base (P
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http://dx.doi.org/10.1097/SCS.0b013e318191cf73 DOI Listing Publication Analysis
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J 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.
Medicine (Baltimore)
November 2024
Department of Dermatology, The Affiliated Hospital of Inner Mongolia Medical University, Hohhot, China.
J Oral Pathol Med
January 2025
Department of Biochemistry, Tokyo Dental College, Chiyoda-ku, Tokyo, Japan.
Background: Odontogenic keratocyst (OKC) is a partial manifestation of Gorlin syndrome (GS), resulting from the abnormal activation of the hedgehog signaling pathway. OKC predominantly occurs in young adults and is mostly asymptomatic at the time of initial diagnosis. As OKC is asymptomatic, GS can be challenging to diagnose in certain instances.
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