Genetics Home Reference: Meier-Gorlin syndrome

Source: NLM General Announcements - Category: Databases & Libraries Source Type: news

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Condition:   Recurrent Basal Cell Carcinoma Interventions:   Drug: Patidegib Topical Gel, 2%;   Drug: Patidegib Topical Gel, Vehicle Sponsor:   PellePharm, Inc. Not yet recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
Conclusions: The 9q22.3 microdeletion syndrome should be considered at diagnosis of WT in children with dysmorphic features. Conversely, patients with a known 9q22.3 deletion syndrome should be considered for a WT predisposition surveillance program, especially those with overgrowth. The management should be individualized and given the excellent prognosis, and the unknown future risk of metachronous disease or other malignancy, the surgical approach should be carefully considered.
Source: Journal of Pediatric Hematology Oncology - Category: Hematology Tags: Online Articles: Clinical and Laboratory Observations Source Type: research
Gorlin-Goltz syndrome, also known as nevoid basal cell carcinoma syndrome, is a rare genetic disorder that is transmitted in an autosomal dominant manner with complete penetrance and variable expressivity. It is ...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Research Source Type: research
William ’s syndrome is a well-defined genetic disorder due to a microdeletion on chromosome 7. It is most commonly characterized by cardiovascular defects, electrolyte abnormalities, and abnormal facies. Cutaneous manifestations of this syndrome are uncommonly discussed in the literature, and its possible association with various basal cell carcinoma syndromes is even less well established. Specifically, the hereditary basal cell carcinoma syndromes that have a well-established genetic basis—nevoid basal cell carcinoma syndrome, xeroderma pigmentosum, Bazex-Dupre-Christol syndrome, and Rombo syndr ome—sho...
Source: Journal of the American Academy of Dermatology - Category: Dermatology Source Type: research
This article provides a brief description of the pathogenesis and clinical manifestations of various inherited disorders with skin involvement, along with treatment updates. Advances in molecular-based therapy have spurred development of novel treatment methods for various genodermatoses such as xeroderma pigmentosum (XP) and Gorlin-Goltz syndrome. Further studies are needed to better assess the efficacy of many of these new treatment options.
Source: Dermatologic Clinics - Category: Dermatology Authors: Source Type: research
k M, Bánovčin P Abstract Meier-Gorlin syndrome (MGS) is a genetically heterogeneous primordial dwarfism syndrome. 7-year-old girl with proportional short stature, microcephaly, micrognathia, small ears and absent patellae had normal karyotype with 8% of spontaneous chromosomal breakage. Homozygous mutation p.Phe89Ser(c.266T>A) in ORC1 gene was found by whole genome sequencing. She is regularly followed up for possible neoplasm development. To out knowledge, this is the first report of the association between MGS and DNA breakage. PMID: 31274184 [PubMed - as supplied by publisher]
Source: Endokrynologia Polska - Category: Endocrinology Authors: Tags: Endokrynol Pol Source Type: research
Abstract We use a newly developed feature extraction and classification method to analyze previously published gene expression data sets in Oral Squamous Cell Carcinoma and in healthy oral mucosa in order to find a gene set sufficient for diagnoses. The feature selection technology is based on the relative dichotomy power concept published by us earlier. The resulting biomarker panel has 100% sensitivity and 95% specificity, is enriched in genes associated with oncogenesis and invasive tumor growth, and, unlike marker panels devised in earlier studies, shows concordance with previously published marker genes. ...
Source: Computational Biology and Chemistry - Category: Bioinformatics Authors: Tags: Comput Biol Chem Source Type: research
Medulloblastoma is the most common childhood malignant brain tumor and is considered a minor criterion in the diagnosis of nevoid basal cell carcinoma syndrome (NBCCS). Metastasis of this primitive neuroectodermal tumor is commonly neuraxial; however, extra-neuraxial metastasis have been documented in the literature. Extra-neuraxial metastasis to the jaws is a rare occurrence with only eight cases previously described in the literature. This case documents a unique case of metastatic medulloblastoma to the mandible in a patient previously diagnosed with NBCCS.
Source: Journal of Oral and Maxillofacial Surgery - Category: ENT & OMF Authors: Tags: Case Report Source Type: research
ConclusionsOur data confirmed the high PTCH1mutation rate in both GS-related and sporadic OKCs. In PTCH1-negative cases, other genetic alterations were rare, but could also be related to Hh signaling. These results suggested that an inhibitor of the Hh pathway may be effective for the treatment of OKCs.
Source: Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology - Category: ENT & OMF Source Type: research
Publication date: July 2019Source: Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology, Volume 128, Issue 1Author(s): Dr. Moni Ahmadian, Dr. Paul Freedman, Dr. Renee ReichOdontogenic keratocyst (OKC) is a developmental cyst of the gnathic bones arising from the rests of dental lamina. This cyst demonstrates propensity for aggressive behavior and a relative high rate of recurrence compared to the other odontogenic cysts. Ameloblastoma is a benign neoplasm of odontogenic epithelium. It is the most common clinically significant odontogenic tumor that may demonstrate a locally aggressive clinical behavior. Ameloblas...
Source: Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology - Category: ENT & OMF Source Type: research
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