2023
A De Novo Deleterious PHEX Variant Without Clinical Features of X-Linked Hypophosphatemia
Kayser M, Jain P, Bale A, Carpenter T. A De Novo Deleterious PHEX Variant Without Clinical Features of X-Linked Hypophosphatemia. JCEM Case Reports 2023, 1: luad082. PMID: 37908207, PMCID: PMC10586592, DOI: 10.1210/jcemcr/luad082.Peer-Reviewed Original ResearchSkewed X-inactivationFibroblast growth factor 23Growth factor 23Intrauterine growth restrictionSingle nucleotide polymorphismsDiagnosis of XLHClinical featuresFactor 23Duodenal atresiaRadiographic featuresGrowth restrictionPostnatal genetic testingAndrogen receptor locusPotential treatmentGenetic testingHypophosphatemiaXLHHereditary ricketsDominant disorderPrenatal identificationCommon formHemizygous malesHeterozygous disruptionRicketsHeterozygous females
2019
Rickets severity predicts clinical outcomes in children with X-linked hypophosphatemia: Utility of the radiographic Rickets Severity Score
Thacher TD, Pettifor JM, Tebben PJ, Creo AL, Skrinar A, Mao M, Chen CY, Chang T, San Martin J, Carpenter TO. Rickets severity predicts clinical outcomes in children with X-linked hypophosphatemia: Utility of the radiographic Rickets Severity Score. Bone 2019, 122: 76-81. PMID: 30772600, DOI: 10.1016/j.bone.2019.02.010.Peer-Reviewed Original ResearchConceptsRickets Severity ScoreSerum alkaline phosphataseSeverity scoreSevere self-reported painPediatric Outcomes Data Collection InstrumentPhase 2 clinical trialAlkaline phosphataseLess physical functionSelf-reported painSevere clinical featuresHeight z-scoreRadiographic Global ImpressionPediatric Orthopaedic SocietyIntra-rater reliabilitySubstantial inter-rater reliabilityClinical featuresClinical outcomesBilateral kneesGlobal ImpressionPhysical functionSubstantial intra-rater reliabilityWeek 64Clinical trialsBurosumab treatmentFunctional impairment
2017
Unexpected widespread hypophosphatemia and bone disease associated with elemental formula use in infants and children
Ballesteros L, S. N, Gordon RJ, Ward L, Backeljauw P, Wasserman H, Weber DR, DiMeglio LA, Gagne J, Stein R, Cody D, Simmons K, Zimakas P, Topor LS, Agrawal S, Calabria A, Tebben P, Faircloth R, Imel EA, Casey L, Carpenter TO. Unexpected widespread hypophosphatemia and bone disease associated with elemental formula use in infants and children. Bone 2017, 97: 287-292. PMID: 28167344, PMCID: PMC5884631, DOI: 10.1016/j.bone.2017.02.003.Peer-Reviewed Original ResearchConceptsElemental formula useFormula useSkeletal diseaseRetrospective chart reviewInadequate dietary intakeCertain clinical settingsFormula productsEffect of treatmentSevere malabsorptionChart reviewSevere hypocalcemiaClinical featuresClinical profileRenal excretionDietary intakeCommon findingMineral metabolismBone diseaseHypophosphatemiaPhosphate supplementationSkeletal radiographsCareful monitoringComplex illnessRenal conservationClinical setting
2016
An Unusual Case of Rickets and How Whole Exome Sequencing Helped to Correct a Diagnosis
Peter P, Brownstein C, Yao G, Olear E, Simpson C, Agrawal P, Carpenter T, Insogna K. An Unusual Case of Rickets and How Whole Exome Sequencing Helped to Correct a Diagnosis. AACE Clinical Case Reports 2016, 2: ee278-ee283. DOI: 10.4158/ep15944.cr.Peer-Reviewed Original ResearchWhole-exome sequencingForms of ricketsExome sequencingGrowth factor 23Classic clinical featuresClinical suspicionClinical featuresClinical presentationFactor 23Parathyroid hormoneDihydroxyvitamin D3Correct diagnosisMistaken diagnosisUnusual caseNutritional deficienciesRicketsPatientsDiagnosisDiseaseHypophosphatemiaGenetic defectsCompound heterozygotesCYP27B1Gene sequencing technologyXLH
2012
Chapter 26 Familial Hypophosphatemia and Related Disorders
Holm I, Econs M, Carpenter T. Chapter 26 Familial Hypophosphatemia and Related Disorders. 2012, 699-726. DOI: 10.1016/b978-0-12-382040-2.10026-7.Peer-Reviewed Original ResearchAutosomal dominant hypophosphatemic ricketsTumor-induced osteomalaciaRelated disordersClinical featuresHypophosphatemic ricketsPathophysiology of XLHLong-term morbidityDevelopment of ricketsDegenerative joint diseaseHereditary hypophosphatemic ricketsCommon bone diseaseDominant hypophosphatemic ricketsFGF-23Joint painDental abscessDihydroxyvitamin DAvailable therapiesFamilial hypophosphatemiaHypophosphatemic diseasesDental diseaseJoint diseaseBone diseaseChronic featuresTherapeutic approachesRenal phosphate
2003
Chapter 25 Familial Hypophosphatemia and Related Disorders
Holm I, Econs M, Carpenter T. Chapter 25 Familial Hypophosphatemia and Related Disorders. 2003, 603-xvi. DOI: 10.1016/b978-012286551-0/50027-0.Peer-Reviewed Original ResearchAutosomal dominant hypophosphatemic ricketsTumor-induced osteomalaciaRelated disordersHypophosphatemic ricketsPathophysiology of XLHDevelopment of ricketsDegenerative joint diseaseHereditary hypophosphatemic ricketsCommon bone diseaseJoint painDental abscessClinical featuresDihydroxyvitamin DFamilial hypophosphatemiaHypophosphatemic diseasesDental diseaseJoint diseaseBone diseaseRenal phosphateEndopeptidase PHEXShort statureHypophosphatemiaXLHDiseaseRickets
1987
Severe hypervitaminosis A in siblings: Evidence of variable tolerance to retinol intake
Carpenter T, Pettifor J, Russell R, Pitha J, Mobarhan S, Ossip M, Wainer S, Anast C. Severe hypervitaminosis A in siblings: Evidence of variable tolerance to retinol intake. The Journal Of Pediatrics 1987, 111: 507-512. PMID: 3655980, DOI: 10.1016/s0022-3476(87)80109-9.Peer-Reviewed Original ResearchConceptsSimilar clinical featuresRetinyl ester levelsRetinol intakeTherapeutic trialsClinical featuresHypervitaminosis ADietary vitaminLiver spreadVitamin AMicrograms/Total vitaminInfusionRetinyl estersSame dietIntakeEventual deathVitaminEster levelsYounger brotherAgent 2SyndromeSymptomsYearsExcretionIntoxicationBONE FRAGILITY, CRANIOSYNOSTOSIS, HYDROCEPHALUS AND OCULAR PROPTOSIS: FURTHER OBSERVATIONS ON A NEWLY RECOGNIZED TYPE OF OSTEOGENESIS IMPERFECTA (OI)
Cole D, Carpenter T. BONE FRAGILITY, CRANIOSYNOSTOSIS, HYDROCEPHALUS AND OCULAR PROPTOSIS: FURTHER OBSERVATIONS ON A NEWLY RECOGNIZED TYPE OF OSTEOGENESIS IMPERFECTA (OI). Pediatric Research 1987, 21: 226-226. DOI: 10.1203/00006450-198704010-00360.Peer-Reviewed Original ResearchOcular proptosisOsteogenesis imperfectaPoor wound healingConnective tissue involvementYears of ageMonths of ageRecognized typesClinical featuresCompression fracturesEasy bruisingNew bone formationBone resorptionDiaphyseal fracturesTissue involvementBony deformityBone fragilityBlue scleraeBone deformitiesSimilar facial featuresJoint laxityBone volumeExtensive demineralizationUnrelated infantsHigh-pitched voiceNew cases