{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Obiezu F"],"funding":["Intramural NIH HHS","NCATS NIH HHS","NIDDK NIH HHS"],"pagination":["ziae156"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11736719"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["9(2)"],"pubmed_abstract":["Jansen metaphyseal chondrodysplasia (JMC) is an ultra-rare disorder caused by constitutive activation of parathyroid hormone type 1 receptor (PTH1R). We sought to characterize the craniofacial phenotype of patients with the disease. Six patients with genetically confirmed JMC underwent comprehensive craniofacial phenotyping revealing a distinct facial appearance that prompted a cephalometric analysis demonstrating a pattern of mandibular retrognathia. Oral examination was notable for flat and shallow palate, delayed eruption pattern, and impacted maxillary teeth. Subclinical and/or mild hearing loss was noted in 4 of 5 patients studied. The most common etiology was conductive, likely due to overcrowding of epitympanum which impedes the normal vibration of ossicles to sound. Paranasal sinus"],"journal":["JBMR plus"],"pubmed_title":["Jansen metaphyseal chondrodysplasia: analysis of craniofacial manifestations."],"pmcid":["PMC11736719"],"funding_grant_id":["ZIA DK043006","R01 DK113039","ZIA DC000064","ZIA HG200407","KL2 TR000425"],"pubmed_authors":["Obiezu F","Kim HJ","Ferreira CR","Gafni RI","Lee JS","Collins MT","Boyce A","Chu E","Jha S","Almpani K","Zalewski C","Farhadi F","Roszko KL","Jahanmir G","Weinstein LS","Juppner H"],"additional_accession":[]},"is_claimable":false,"name":"Jansen metaphyseal chondrodysplasia: analysis of craniofacial manifestations.","description":"Jansen metaphyseal chondrodysplasia (JMC) is an ultra-rare disorder caused by constitutive activation of parathyroid hormone type 1 receptor (PTH1R). We sought to characterize the craniofacial phenotype of patients with the disease. Six patients with genetically confirmed JMC underwent comprehensive craniofacial phenotyping revealing a distinct facial appearance that prompted a cephalometric analysis demonstrating a pattern of mandibular retrognathia. Oral examination was notable for flat and shallow palate, delayed eruption pattern, and impacted maxillary teeth. Subclinical and/or mild hearing loss was noted in 4 of 5 patients studied. The most common etiology was conductive, likely due to overcrowding of epitympanum which impedes the normal vibration of ossicles to sound. Paranasal sinus","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Feb","modification":"2026-06-05T18:00:12.065Z","creation":"2026-05-20T03:09:33.096Z"},"accession":"S-EPMC11736719","cross_references":{"pubmed":["39830149"],"doi":["10.1093/jbmrpl/ziae156"]}}