Severe Hypercalcemia due to Primary Hyperparathyroidism with MEN 2A
Thompson G, Dy B, Vazquez B, Tebben P, Kumar S. Severe Hypercalcemia due to Primary Hyperparathyroidism with MEN 2A. World Journal Of Endocrine Surgery 2010, 2: 131-133. DOI: 10.5005/jp-journals-10002-1037.Peer-Reviewed Original ResearchSevere hypercalcemia due to primary hyperparathyroidismHypercalcemia due to primary hyperparathyroidismPrimary hyperparathyroidismSevere hypercalcemiaParathyroid adenomaMEN 2ASurgical managementRare presentation of primary hyperparathyroidismCalcium levelsPresentation of primary hyperparathyroidismDecreased bone mineral densityElevation of serum calciumSingle parathyroid adenomaTreatment of hyperparathyroidismEarly surgical managementBone mineral densityTime of diagnosisParathyroid carcinomaRare presentationClinical presentationSerum calciumMineral densitySevere elevationClinical manifestationsDifferential diagnosisGermline TGF‐β receptor mutations and skeletal fragility: A report on two patients with Loeys–Dietz syndrome
Kirmani S, Tebben P, Lteif A, Gordon D, Clarke B, Hefferan T, Yaszemski M, McGrann P, Lindor N, Ellison J. Germline TGF‐β receptor mutations and skeletal fragility: A report on two patients with Loeys–Dietz syndrome. American Journal Of Medical Genetics Part A 2010, 152A: 1016-1019. PMID: 20358619, DOI: 10.1002/ajmg.a.33356.Peer-Reviewed Case Reports and Technical NotesConceptsLow bone mineral densityBone mineral densityMarfan syndromeSkeletal fragilitySurgical repairMineral densityTalipes equinovarusEhlers-Danlos syndrome type IVFamilial aortic aneurysmsAortic root dilatationSubmucous cleft palateLoeys-Dietz syndromeRoot dilatationCleft palateFragility fracturesSignificant skeletal deformityHeterozygous mutationsReceptor mutationsPectus excavatumVascular fragilityEDS-IVInguinal herniaAortic aneurysmAscending aortaVascular complications