2021
Novel homozygous variant in BMP1 associated with a rare osteogenesis imperfecta phenotype
Choksi I, Cox A, Robinson C, Bale A, Carpenter T. Novel homozygous variant in BMP1 associated with a rare osteogenesis imperfecta phenotype. Osteoporosis International 2021, 32: 1239-1244. PMID: 33624138, DOI: 10.1007/s00198-021-05838-1.Peer-Reviewed Original ResearchConceptsVertebral compression fracturesNovel homozygous variantOsteogenesis imperfectaMultiple vertebral compression fracturesZ-scoreHomozygous variantBilateral tibial fracturesLumbar spine BMDTotal hip BMDEffectiveness of bisphosphonatesFemoral neck BMDHeight z-scoreHomozygous missense variantBroad phenotypic spectrumBisphosphonate therapyBP therapySpinal osteopeniaSymptomatic reliefClinical presentationRecurrent fracturesSpine BMDTibial fracturesCompression fracturesHip BMDNeck BMD
2020
SUN-LB19 Novel Homozygous Mutation in BMP1 Causing Osteogenesis Imperfecta
Choksi I, Carpenter T, Robinson C. SUN-LB19 Novel Homozygous Mutation in BMP1 Causing Osteogenesis Imperfecta. Journal Of The Endocrine Society 2020, 4: sun-lb19. PMCID: PMC7209160, DOI: 10.1210/jendso/bvaa046.2020.Peer-Reviewed Original ResearchVertebral compression fracturesOsteogenesis imperfectaNovel homozygous mutationRare formMultiple vertebral compression fracturesBilateral tibial fracturesNormal serum calciumHigh-resolution peripheral quantitative CTHomozygous mutationLumbar spine BMDTotal hip BMDVertebral height lossEffectiveness of bisphosphonatesFemoral neck BMDProtein 1Age 6 yearsAge 2.5 yearsPeripheral quantitative CTGross motor delayAutosomal recessive osteogenesis imperfectaBroad phenotypic spectrumBP therapySpinal osteopeniaSubtle facial dysmorphismSymptomatic relief
1987
BONE 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 casesBone fragility, craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features: A newly recognized type of osteogenesis imperfecta
Cole E, Carpenter T. Bone fragility, craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features: A newly recognized type of osteogenesis imperfecta. The Journal Of Pediatrics 1987, 110: 76-80. PMID: 3794889, DOI: 10.1016/s0022-3476(87)80292-5.Peer-Reviewed Original ResearchConceptsDistinctive facial featuresOsteogenesis imperfectaOcular proptosisMultiple compression fracturesWeight-bearing bonesDistinctive dysmorphic featuresBone biopsyCompression fracturesNew bone formationBone resorptionDiaphyseal fracturesBone fragilityBone deformitiesBone volumeExtensive demineralizationNew casesDysmorphic featuresFirst birthdayHydrocephalusBone formationLong bonesProptosisMultiple fracturesImperfectaFurther elucidation