Scientific publications
Special issues
Rare skeletal disorders: a focus on ERN BOND’s experience
‘European Journal of Medical Genetics’ Special Issues
Call for papers is open
BOND members are invited in contributing to this Special Issue with Original Research articles, Case Reports and Review articles improving knowledge and patients’ management in skeletal disorders.
Please contact the Guest co-Editors Dr. Alice Moroni (alice.moroni@ior.it) or Dr. Elena Pedrini (elena.pedrini@ior.it), together with the BOND Coordination Team for communicating you are willing to submit a manuscript and for more details on the publication fee coverage by ERN BOND.
Genetic and Genomics of Skeletal Disorders
‘Genes’ Journal Special Issues, including rare skeletal diseases sub-topic
2023
Is the High Healing Index a Complication of Progressive Long Bone Lengthening? Observations from a Cohort of 178 Children Treated with Circular External Fixation for Lower Limb Length Discrepancy
Depaoli A. et al.Children
What to Expect of Feeding Abilities and Nutritional Aspects in Achondroplasia Patients: A Narrative Review
E. Sforza et al. Genes (Basel). 2023 Jan 12
Multicentric Giant Cell Tumor of Bone
C, Errani et al. Orthopedics. 2023 May 2
The Prognostic Value of the Serum Level of C-Reactive Protein for Survival of Children with Ewing’s Sarcoma
C. Errani et al. Cancers (Basel). 2023 Mar
Burosumab for X-linked hypophosphatemia in children and adolescents: Opinion based on early experience in seven European countries
Mughal MZ et al., Front. Endocrinol., 31 January 2023.
2022
Precocious puberty and anal stenosis in an African patient with Rothmund-Thomson syndrome
Lorenzo C et al., Am J Med Genet A. 2022 Sep 26
Post-authorisation safety study of burosumab use in paediatric, adolescent and adult patients with X-linked hypophosphataemia: rationale and description
Brandi ML et al., Ther Adv Chronic Dis. 2022 Sep 5
Optimising the diagnosis and referral of achondroplasia in Europe: European Achondroplasia Forum best practice recommendations
Cormier-Daire V et al., Orphanet J Rare Dis. 2022 Jul 27
More severe phenotype of early-onset osteoporosis associated with recessive form of LRP5 and combination with DKK1 or WNT3A
Caetano da Silva C et al., Mol Genet Genomic Med. 2021 Jun
WNT11, a new gene associated with early onset osteoporosis, is required for osteoblastogenesis
Caetano da Silva C et al., Hum Mol Genet. 2022 May 19
Skeletal and extraskeletal disorders of biomineralization
Collins MT et al., Nature Reviews Endocrinology 2022 May 16
Clinical, Immunological, and Genetic Findings in a Cohort of Patients with the DiGeorge Phenotype without 22q11.2 Deletion
Quintilio Alberio AM et al., Clin Med. 2022 Apr 5
Secondary peripheral chondrosarcoma arising in solitary osteochondroma: variables influencing prognosis and survival
Righi A et al., Orphanet J Rare Dis. 2022 Feb 22
Osteogenesis Imperfecta: characterization of fractures during pregnancy and post-partum
Koumakis E et al., Orphanet J Rare Dis. 2022 Jan 28
Oral health-related quality of life in patients with X-linked hypophosphatemia: a qualitative exploration
Nguyen C et al., Endocr Connect. 2022 Jan 28
Limb Lengthening With PreciceIntramedullary Lengthening Nails in Children and Adolscents
Radler C et al. J Pediatr Orthop. 2021 Nov 18
Phenotypic Variation in Vietnamese Osteogenesis Imperfecta Patients Sharing a Recessive P3H1 Pathogenic Variant
Zhytnik L et al. Genes (Basel)
2021
X-linked hypophosphatemia and burosumab: Practical clinical points from the French experience
Bacchetta J et al. Joint Bone Spine.
Defining a growing and maturing skeleton and its relevance in diseases that affect skeletal growth, such as X-linked hypophosphataemia (XLH)
Beck-Nielsen SS et al. Int J Rare Dis Disord. 2021;4:029
Oral health-related quality of life in X-linked hypophosphatemia and osteogenesis imperfecta
Gjørup H et al. J Oral Rehabil. 2021 Feb;48(2):160-168.
Patient-Reported Outcomes from a Randomized, Active-Controlled, Open-Label, Phase 3 Trial of Burosumab Versus Conventional Therapy in Children with X-Linked Hypophosphatemia
Padidela R et al. Calcif Tissue Int. 2021 Jan 23
Lower Limb Deformity and Gait Deviations Among Adolescents and Adults With X-Linked Hypophosphatemia
Mindler GT et al. Front Endocrinol (Lausanne). 2021 Sep 27;12:754084.
Burden of disease and clinical targets in adult patients with X-linked hypophosphatemia. A comprehensive review
Giannini S et al. Osteoporos Int
Impact of Early Conventional Treatment on Adult Bone and Joints in a Murine Model of X-Linked Hypophosphatemia
Cauliez A et al. Front Cell Dev Biol
A Roadmap to Gene Discoveries and Novel Therapies in Monogenic Low and High Bone Mass Disorders
Formosa MM et al. Front Endocrinol (Lausanne)
WNT11, a new gene associated with early-onset osteoporosis, is required for osteoblastogenesis
Silva CC et al. Hum Mol Genet.
Biochemical assessment of phosphate homeostasis
Houillier P et al. Arch Pediatr.
Editorial: New Therapeutic Options for Rare Diseases
Meyer S et al. Front Pediatr 2022 Jan 24;9:832395.
Bone Fractures in Children and Young Adults With Type 1 Diabetes: Age Distribution, Fracture Location, and the Role of Glycemic Control
Eckert AJ et al. J Bone Miner Res 2021 Dec;36(12):2371-2380.
Cross-sectional analysis: clinical presentation of children with persistently low ALP levels
Semler O et al. J Pediatr Endocrinol Metab. 2021 (online first)
The Genetics of Atypical Femur Fractures-a Systematic Review
Zhou W et al. Curr Osteoporos Rep.
Mineral and Bone Consequences of High Dose Denosumab Therapy to Treat an Aneurysmal Bone Cyst, a Child Case Report
Del Sindaco G et al. Front Endocrinol (Lausanne)
Hypercalcemia during pregnancy: management and outcomes for mother and child
Appelman-Dijkstra NM et al. Endocrine. 2021 Mar;71(3):604-610.
How to design a registry for undiagnosed patients in the framework of rare disease diagnosis: suggestions on software, data set and coding system
Berger A et al. Orphanet Journal of Rare Diseases
Expanding the Phenotype of the FAM149B1-Related Ciliopathy and Identification of Three Neurogenetic Disorders in a Single Family
Siegert S et al. Genes (Basel). 2021 Oct 20;12(11):1648.
PTH resistance
Mantovani G et al. Mol Cell Endocrinol
Novel Pathogenetic Variants in PTHLH and TRPS1 Genes Causing Syndromic Brachydactyly
Elli FM et al. J Bone Miner Res.
Vitamin D-Dependent Rickets Type 1A in Two Siblings with a Hypomorphic CYP27B1 Variant Frequent in the African Population
De Brito Chagas J et al. J Pediatr Genet 2021 Online
Patients’ priorities and expectations on an EU registry for rare bone and mineral conditions
Javaid MK et al. Orphanet
Infectious spondylodiscitis and kyphosis correction in an infant: a case report
Romano S et al. Ital J Pediatr
Do Not Simply Pull a Dislocated Finger
Nisticò D et al. J Pediatr
Six-year-old boy with a slow-onset persistent back pain
Caddeo G et al. Arch Dis Child Educ Pract Ed
A child without kneecaps
Baldo F et al. J Paediatr Child Health
Hypercalcemia during pregnancy: management and outcomes for mother and child
Appelman-Dijkstra NM et al. Endocrine.
Clinical Phenotype and Bone Biopsy Characteristics in a Child with Proteus Syndrome
Al Kaissi A et al. Calcif Tissue Int. 2021 Nov;109(5):586-595
Is ghrelin a biomarker of early-onset scoliosis in children with Prader-Willi syndrome?
Pacoricona Alfaro DL et al. Orphanet J Rare Dis.
Pseudohypoparathyroidism: Focus on Cerebral and Renal Calcifications
Mazoni L et al. J Clin Endocrinol Metab
The WNT1 G177C mutation specifically affects skeletal integrity in a mouse model of osteogenesis imperfecta type XV
Vollersen N et al. Bone Res 2021 Nov 10;9(1):48.
A standard set of outcome measures for the comprehensive assessment of osteogenesis imperfecta
Wouter Nijhuis 1 et al Orphanet J Rare Dis. 2021 Mar 20;16(1):140.
Osteogenesis Imperfecta: characterization of fractures during pregnancy and post-partum
Koumakis E et al. Orphanet J Rare Dis. 2022
Abnormalities in Tooth Formation after Early Bisphosphonate Treatment in Children with Osteogenesis Imperfecta
Malmgren B et al. Calcif Tissue Int.
Human dentin characteristics of patients with osteogenesis imperfecta: insights into collagen-based biomaterials
Pragnère S et al. Acta Biomaterialia
Low bone mass in Noonan syndrome children correlates with decreased muscle mass and low IGF-1 levels
Delagrange M et al. BONE
Identification of the third FGF9 variant in a girl with multiple synostosis-comparison of the genotype:phenotype of FGF9 variants in humans and mice
Sentchordi-Montané L et al. Clin Genet
Presenting features and molecular genetics of primary hyperparathyroidism in the paediatric population
El Allali Y et al. Eur J Endocrinol
Lethal Encephalopathy in an Infant with Hypophosphatasia despite Enzyme Replacement Therapy
Raimann A et al. Horm Res Paediatr. 2021 Oct 21
Utility of genetic testing for prenatal presentations of hypophosphatasia
Sperelakis-Beedham B et al. Mol Genet Metab
The Treatment of Recurrent Congential clubfoot
Radler C. Foot Ankle Clin. 2021 Dec;26(4):619-637
Safe and persistent growth-promoting effects of vosoritide in children with achondroplasia: 2-year results from an open-label, phase 3 extension study
Savarirayan R et al. Nature/ Genetics in Medicine
Lifetime impact of achondroplasia: Current evidence and perspectives on the natural history
Hoover-Fong J et al. Bone
2020
The International X-Linked Hypophosphataemia (XLH) Registry (NCT03193476): Rationale for and Description of an International, Observational Study
Padidela R et al. Orphanet J Rare Dis
Hyperparathyroidism in Patients With X-Linked Hypophosphatemia
Lecoq AL et al. J Bone Miner Res
Management of X-linked hypophosphatemia in adults
Lecoq AL et al. Metabolism
Development of Enthesopathies and Joint Structural Damage in a Murine Model of X-Linked Hypophosphatemia
Faraji-Bellée CA et al. Front Cell Dev Biol
Epiphyseal Cleft: A Misleading Radiologic Finding
Trevisan M et al. J Pediatr
Vertebral Fractures in Individuals With Type 2 Diabetes: More Than Skeletal Complications Alone
Koromani F et al. Diabetes Care
A multi-omics approach expands the mutational spectrum of MAP2K1-related melorheostosis
De Ridder R et al. Bone
Osteoporosis in Premenopausal Women: A Clinical Narrative Review by the ECTS and the IOF
Pepe J et al. J Clin Endocrinol Metab
Fracture Risk and Management of Discontinuation of Denosumab Therapy: A Systematic Review and Position Statement by ECTS
Tsourdi E et al. J Clin Endocrinol Metab
The line between COVID-19 pandemic and rare bone diseases
Sangiorgi L et al. Ir J Med Sci
Vitamin D, and Maternal and Child Health
Moon RJ et al. Calcif Tissue Int
Vitamin D supplementation: are multivitamins sufficient?
Moon RJ et al. Arch Dis Child
10th European Conference on Rare Diseases & Orphan Products (ECRD 2020) # (Rare 2030 Foresight Study: Overview and presentation of four Rare 2030 “What If” scenarios)
Macek M et al. Orphanet Journal of Rare Diseases
Handgrip strength is a comorbidity marker in systemic necrotizing vasculitides and predicts the risk of fracture and serious adverse events
Henriquez S et al. Rheumatology (Oxford)
Diffuse bone and soft tissue angiomatosis with GNAQ mutation
Gaeta R et al. Pathol Int
Providing high-quality care remotely to patients with rare bone diseases during COVID-19 pandemic
Brizola E et al. Orphanet J Rare Dis
Ghrelin uses the GHS-R1a/Gi/cAMP pathway and induces differentiation only in mature osteoblasts
Barre R et al. Biochem Biophys Rep
Expression of the type 1 lysophosphatidic acid receptor in osteoblastic cell lineage controls both bone mineralization and osteocyte specification
Alioli CA et al. Biochim Biophys Acta Mol Cell Biol Lipids
Homozygous Loss-of-Function Mutations in CCDC134 Are Responsible for a Severe Form of Osteogenesis Imperfecta
Dubail J et al. J Bone Miner Res
Burden of Illness in Adults With Hypophosphatasia: Data From the Global Hypophosphatasia Patient Registry
Seefried L et al. J Bone Miner Res
Hypophosphatasia: Biological and Clinical Aspects, Avenues for Therapy
Salles JP Clin Biochem Rev
A Large Skull Defect Due to Gorham-Stout Disease: Case Report and Literature Review on Pathogenesis, Diagnosis, and Treatment
de Keyser CE et al. Front Endocrinol (Lausanne)
Biallelic cGMP-dependent type II protein kinase gene (PRKG2) variants cause a novel acromesomelic dysplasia
Díaz-González F et al. J Med Genet
2019
An emerging ribosomopathy affecting the skeleton due to biallelic variations in NEPRO
Narayanan DL et al. Am J Med Genet A
Management of Endocrine Disease: Unmet therapeutic, educational and scientific needs in parathyroid disorders
Bollerslev J et al. Eur J Endocrinol
COL1A1/2 Pathogenic Variants and Phenotype Characteristics in Ukrainian Osteogenesis Imperfecta Patients
Zhytnik L et al. Front Genet
De novo and inherited pathogenic variants in collagen-related osteogenesis imperfecta
Zhytnik L et al. Mol Genet Genomic Med
Aortic aneurysm/dissection and osteogenesis imperfecta: Four new families and review of the literature
Balasubramanian M et al. Bone
Prevalence and Clinical Features of Mazabraud Syndrome: A Multicenter European Study
Majoor BCJ et al. J Bone Joint Surg Am
Elemental formula associated hypophosphataemic rickets
Uday S et al. Clinical Nutrition
Natural history of fibrodysplasia ossificans progressiva: cross-sectional analysis of annotated baseline phenotypes
Pignolo RJ et al. Orphanet J Rare Dis
Special considerations for clinical trials in fibrodysplasia ossificans progressiva (FOP)
Hsiao EC et al. Br J Clin Pharmacol
Clinical and translational pharmacological aspects of the management of fibrous dysplasia of bone
Rotman M et al. Br J Clin Pharmacol
Pain in fibrous dysplasia: relationship with anatomical and clinical features
Majoor BCJ et al. Acta Orthop
Denosumab in Patients With Fibrous Dysplasia Previously Treated With Bisphosphonates
Majoor BCJ et al. J Clin Endocrinol Metab
2018
Animal models to explore the effects of glucocorticoids on skeletal growth and structure
Wood CL et al. J Endocrinol
Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort
Meester JAN et al. Hum Mutat
Increased Risk of Breast Cancer at a Young Age in Women with Fibrous Dysplasia
Majoor BC et al. J Bone Miner Res
Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature
Hauer NN et al. Genet Med
Bi-allelic Loss-of-Function Mutations in the NPR-C Receptor Result in Enhanced Growth and Connective Tissue Abnormalities
Boudin E et al. Am J Hum Genet
Phosphate wasting disorders in adults
Marcucci G et al. Osteoporos Int
Passive Coping Strategies Are Associated With More Impairment In Quality Of Life In Patients With Fibrous Dysplasia
Rotman M et al. Calcif Tissue Int
Endospanin-2 enhances skeletal muscle energy metabolism and running endurance capacity
Lancel S et al. JCI Insight
Early postnatal soluble FGFR3 therapy prevents the atypical development of obesity in achondroplasia
Saint-Laurent C et al. PLoS One
Individualized approach to the surgical management of fibrous dysplasia of the proximal femur
Majoor BCJ et al. Orphanet J Rare Dis
Illness Perceptions are Associated with Quality of Life in Patients with Fibrous Dysplasia
Majoor BCJ et al. Calcif Tissue Int
Growth in achondroplasia: Development of height, weight, head circumference, and body mass index in a European cohort
Merker A et al. Am J Med Genet A
A 6-Year Follow-Up of Fracture Incidence and Volumetric Bone Mineral Density Development in Girls With Turner Syndrome
Soucek O et al. J Clin Endocrinol Metab
Further delineation of Malan syndrome
Priolo M et al. Hum Mutat
Development of body proportions in achondroplasia: Sitting height, leg length, arm span, and foot length
Merker A et al. Am J Med Genet A
2017
Spontaneous Growth and Effect of Early Therapy with Calcitriol and Phosphate in X-linked Hypophosphatemic Rickets
Cagnoli M et al. Pediatr Endocrinol Rev
Aggrecan Mutations in Nonfamilial Short Stature and Short Stature Without Accelerated Skeletal Maturation
Tatsi C et al. J Endocr Soc