Research & Literature

Sleep disordered breathing in a cohort of children with achondroplasia: correlation between clinical and instrumental findings.

Zaffanello M, Lo Tartaro P, Piacentini G, et al.

Minerva pediatrica 2017; (69(6)):481-488 doi:10.23736/S0026-4946.16.04282-1.

FGFR3 biology and skeletal disease.

Narayana J, Horton WA

Connective tissue research 2015; (56(6)):427-33 doi:10.3109/03008207.2015.1051224.

Achondroplasia: Current Options and Future Perspective.

Bouali H, Latrech H

Pediatric endocrinology reviews : PER 2015; (12(4)):388-95.

Is there a correlation between sleep disordered breathing and foramen magnum stenosis in children with achondroplasia?

White KK, Parnell SE, Kifle Y, et al.

American journal of medical genetics. Part A 2016; (170A(1)):32-41 doi:10.1002/ajmg.a.37385.

Letter to the editor: Response to two recent articles regarding achondroplasia.

Pauli RM

American journal of medical genetics. Part A 2016; (170A(4)):1099-100 doi:10.1002/ajmg.a.37540.

Achondroplasia with Polydactyly: A Case Report.

Frank C, Shariff S, Pavani M, et al.

Journal of clinical and diagnostic research : JCDR 2017; (11(3)):ZD14-ZD15 doi:10.7860/JCDR/2017/24678.9477.

Growth charts for Australian children with achondroplasia.

Tofts L, Das S, Collins F, Burton KLO

American journal of medical genetics. Part A 2017; (173(8)):2189-2200 doi:10.1002/ajmg.a.38312.

Mutations in C-natriuretic peptide (NPPC): a novel cause of autosomal dominant short stature.

Hisado-Oliva A, Ruzafa-Martin A, Sentchordi L, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2018; (20(1)):91-97 doi:10.1038/gim.2017.66.

Cervical spinal cord compression in infants with achondroplasia: should neuroimaging be routine?

Sanders VR, Sheldon SH, Charrow J

Genetics in medicine : official journal of the American College of Medical Genetics 2019; (21(2)):459-463 doi:10.1038/s41436-018-0070-0.

Polysomnography as an indicator for cervicomedullary decompression to treat foramen magnum stenosis in achondroplasia.

Sano M, Takahashi N, Nagasaki K, et al.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2018; (34(11)):2275-2281 doi:10.1007/s00381-018-3880-0.

Growth in achondroplasia: Development of height, weight, head circumference, and body mass index in a European cohort.

Merker A, Neumeyer L, Hertel NT, et al.

American journal of medical genetics. Part A 2018; (176(8)):1723-1734 doi:10.1002/ajmg.a.38853.

Editorial: Neonatal management of achondroplasia: one hospital's geosocial approach to improve patient outcomes.

Gooch C, Robin NH, Hurst ACE

Current opinion in pediatrics 2019; (31(6)):691-693 doi:10.1097/MOP.0000000000000814.

Cranio-cervical junction malformation causing cord compression in infant with achondroplasia: a bigger picture.

Caratella S, Tarazi M, Tomalieh FT, et al.

British journal of neurosurgery 2023; (37(4)):886-888 doi:10.1080/02688697.2019.1698009.

Clinical Practice Guidelines for Achondroplasia.

Kubota T, Adachi M, Kitaoka T, et al.

Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology 2020; (29(1)):25-42 doi:10.1297/cpe.29.25.

New developments in the management of achondroplasia.

Högler W, Ward LM

Wiener medizinische Wochenschrift (1946) 2020; (170(5-6)):104-111 doi:10.1007/s10354-020-00741-6.

Lumbar spinal stenosis and disc alterations affect the upper lumbar spine in adults with achondroplasia.

Huet T, Cohen-Solal M, Laredo JD, et al.

Scientific reports 2020; (10(1)):4699 doi:10.1038/s41598-020-61704-w.

Improvement in ventriculomegaly following cervicomedullary decompressive surgery in children with achondroplasia and foramen magnum stenosis.

Kashanian A, Chan J, Mukherjee D, et al.

American journal of medical genetics. Part A 2020; (182(8)):1896-1905 doi:10.1002/ajmg.a.61640.

Correction of Bowleg Deformity in Achondroplasia through Combined Bony Realignment and Lateral Collateral Ligament Tightening.

Kurian BT, Belthur MV, Jones S, et al.

Strategies in trauma and limb reconstruction 2019; (14(3)):132-138 doi:10.5005/jp-journals-10080-1441.

Birth prevalence of achondroplasia: A systematic literature review and meta-analysis.

Foreman PK, van Kessel F, van Hoorn R, et al.

American journal of medical genetics. Part A 2020; (182(10)):2297-2316 doi:10.1002/ajmg.a.61787.

Centrally mediated obstructive apnoea and restenosis of the foramen magnum in an infant with achondroplasia.

Cocca A, Thompson D, Rahim Z, et al.

British journal of neurosurgery 2023; (37(3)):409-412 doi:10.1080/02688697.2020.1817315.

Cardiovascular risk factors and body composition in adults with achondroplasia.

Fredwall SO, Linge J, Leinhard OD, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2021; (23(4)):732-739 doi:10.1038/s41436-020-01024-6.

Achondroplasia: A form of disproportionate dwarfism - A case report.

Swathi KV, Maragathavalli G

Indian journal of dental research : official publication of Indian Society for Dental Research 2020; (31(5)):794-798 doi:10.4103/ijdr.IJDR_303_19.

Obstructive sleep apnea in Norwegian adults with achondroplasia: a population-based study.

Fredwall SO, Øverland B, Berdal H, et al.

Orphanet journal of rare diseases 2021; (16(1)):156 doi:10.1186/s13023-021-01792-7.

Pictorial review: imaging of the spinal manifestations of achondroplasia.

Khalid K, Saifuddin A

The British journal of radiology 2021; (94(1123)):20210223 doi:10.1259/bjr.20210223.

The first European consensus on principles of management for achondroplasia.

Cormier-Daire V, AlSayed M, Ben-Omran T, et al.

Orphanet journal of rare diseases 2021; (16(1)):333 doi:10.1186/s13023-021-01971-6.

Vosoritide: First Approval.

Duggan S

Drugs 2021; (81(17)):2057-2062 doi:10.1007/s40265-021-01623-w.

Surgical treatment of spinal stenosis in achondroplasia: Literature review comparing results in adults and paediatrics.

Abu Al-Rub Z, Lineham B, Hashim Z, et al.

Journal of clinical orthopaedics and trauma 2021; (23()):101672 doi:10.1016/j.jcot.2021.101672.

Hydrocephalus in achondroplasia: efficacy of endoscopic third ventriculostomy.

Kim J, Patel VJ, El Ahmadieh TY, et al.

Journal of neurosurgery. Pediatrics 2022; (29(3)):268-275 doi:10.3171/2021.9.PEDS21242.

Growth in achondroplasia including stature, weight, weight-for-height and head circumference from CLARITY: achondroplasia natural history study-a multi-center retrospective cohort study of achondroplasia in the US.

Hoover-Fong JE, Schulze KJ, Alade AY, et al.

Orphanet journal of rare diseases 2021; (16(1)):522 doi:10.1186/s13023-021-02141-4.

Experiences of children and adolescents living with achondroplasia and their caregivers.

Shediac R, Moshkovich O, Gerould H, et al.

Molecular genetics & genomic medicine 2022; (10(4)):e1891 doi:10.1002/mgg3.1891.

New Drug Treats Pediatric Achondroplasia.

Aschenbrenner DS

The American journal of nursing 2022; (122(3)):18 doi:10.1097/01.NAJ.0000822964.26069.7e.

The (extended) achondroplasia foramen magnum score has good observer reliability.

Jenko N, Connolly DJA, Raghavan A, et al.

Pediatric radiology 2022; (52(8)):1512-1520 doi:10.1007/s00247-022-05348-0.

What Are the Risks and Functional Outcomes Associated With Bilateral Humeral Lengthening Using a Monolateral External Fixator in Patients With Achondroplasia?

Laufer A, Rölfing JD, Gosheger G, et al.

Clinical orthopaedics and related research 2022; (480(9)):1779-1789 doi:10.1097/CORR.0000000000002209.

Thoracolumbar stenosis and neurologic symptoms: Quantitative MRI in achondroplasia.

Calandrelli R, Pilato F, Massimi L, et al.

Journal of neuroimaging : official journal of the American Society of Neuroimaging 2022; (32(5)):884-893 doi:10.1111/jon.13015.

Optimising the diagnosis and referral of achondroplasia in Europe: European Achondroplasia Forum best practice recommendations.

Cormier-Daire V, AlSayed M, Alves I, et al.

Orphanet journal of rare diseases 2022; (17(1)):293 doi:10.1186/s13023-022-02442-2.

Optimising care and follow-up of adults with achondroplasia.

Fredwall S, Allum Y, AlSayed M, et al.

Orphanet journal of rare diseases 2022; (17(1)):318 doi:10.1186/s13023-022-02479-3.

Efficacy of vosoritide in the treatment of achondroplasia.

Paton DM

Drugs of today (Barcelona, Spain : 1998) 2022; (58(9)):451-456 doi:10.1358/dot.2022.58.9.3422313.

Evaluation of polysomnography findings in children with genetic skeletal disorders.

Nayır Büyükşahin H, Emiralioglu N, Simşek Kiper PÖ, et al.

Journal of sleep research 2023; (32(5)):e13914 doi:10.1111/jsr.13914.

Hemiepiphysiodesis for Lower Extremity Coronal Plane Angular Correction in the Distal Femur and Proximal Tibia in Children With Achondroplasia.

Makarewich CA, Zhang E, Stevens PM

Journal of pediatric orthopedics 2023; (43(8)):e639-e642 doi:10.1097/BPO.0000000000002442.

How Body Mass Index Compromises Care of Patients With Disabilities.

Jacobs AE

AMA journal of ethics 2023; (25(7)):E545-549.

Recommendations for neuroradiological examinations in children living with achondroplasia: a European Society of Pediatric Radiology and European Society of Neuroradiology opinion paper.

Wright J, Cheung M, Siddiqui A, et al.

Pediatric radiology 2023; (53(12)):2323-2344 doi:10.1007/s00247-023-05728-0.

Alteration of major venous drainage routes in a patient with achondroplasia after ventriculoperitoneal shunt placement.

Rai Y, Ogiwara H

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2024; (40(3)):913-917 doi:10.1007/s00381-023-06209-3.

New treatments for children with achondroplasia.

Savarirayan R, Hoover-Fong J, Yap P, Fredwall SO

The Lancet. Child & adolescent health 2024; (8(4)):301-310 doi:10.1016/S2352-4642(23)00310-3.

Sleep-Disordered Breathing in an Infant With Achondroplasia and Foramen Magnum Stenosis.

Feller C, Senthilvel E

Cureus 2024; (16(3)):e56291 doi:10.7759/cureus.56291.

European Achondroplasia Forum Practical Considerations for Following Adults with Achondroplasia.

Fredwall S, AlSayed M, Ben-Omran T, et al.

Advances in therapy 2024; (41(7)):2545-2558 doi:10.1007/s12325-024-02880-3.

Challenges in endoscopic third ventriculostomy for patients with achondroplasia: a focus on third ventricle floor anatomy.

Shin JY, Kim AH, Ko JM, et al.

Journal of neurosurgery. Pediatrics 2024; (34(5)):462-469 doi:10.3171/2024.6.PEDS2472.

Management and outcomes of foramen magnum stenosis in children with achondroplasia at a single center over 15 years.

Sandvik U, Ringvall E, Klangemo K, et al.

Journal of neurosurgery. Pediatrics 2024; (34(5)):470-478 doi:10.3171/2024.6.PEDS23586.

Persistent growth-promoting effects of vosoritide in children with achondroplasia are accompanied by improvements in physical and social aspects of health-related quality of life.

Savarirayan R, Irving M, Wilcox WR, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2024; (26(12)):101274 doi:10.1016/j.gim.2024.101274.

Achondroplasia: aligning mouse model with human clinical studies shows crucial importance of immediate postnatal start of the therapy.

Rico-Llanos G, Spoutil F, Blahova E, et al.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2024; (39(12)):1783-1792 doi:10.1093/jbmr/zjae173.

Ensemble-learning regression to estimate sleep apnea severity using at-home oximetry in adults.

Gutiérrez-Tobal GC, Álvarez D, Vaquerizo-Villar F, et al.

Applied soft computing 2021; (111()) doi:10.1016/j.asoc.2021.107827.

[Achondroplasia : New era of orthopedic treatment?]

Mindler GT, Ahyai N, Block K, et al.

Orthopadie (Heidelberg, Germany) 2024; (53(12)):974-984 doi:10.1007/s00132-024-04581-9.

Otologic Manifestations in Patients with Achondroplasia: A Multicenter Study.

Kim D, Yoon J, Suh MW, et al.

The journal of international advanced otology 2024; (20(6)):517-522 doi:10.5152/iao.2024.241523.

International consensus guidelines on the implementation and monitoring of vosoritide therapy in individuals with achondroplasia.

Savarirayan R, Hoover-Fong J, Ozono K, et al.

Nature reviews. Endocrinology 2025; (21(5)):314-324 doi:10.1038/s41574-024-01074-9.

Achondroplasia and obstructive sleep apnea: surgical outcomes and comparison to general population.

Ascencio CG, Wani A, Mitchell RB

Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine 2025; (21(5)):883-890 doi:10.5664/jcsm.11574.

Characteristics of sleep disordered breathing in children with achondroplasia.

Feller C, Gunaratnam B, El-Kersh K, Senthilvel E

Sleep & breathing = Schlaf & Atmung 2025; (29(1)):100 doi:10.1007/s11325-025-03258-7.

Changes in the Alignment of the Spine and Lower Limb in Children With Achondroplasia Treated With Vosoritide: A Single-center, 1-year Follow-up Prospective Study.

Sawamura K, Kitoh H, Kamiya Y, et al.

Journal of pediatric orthopedics 2025; (45(8)):519-524 doi:10.1097/BPO.0000000000002980.

Dynamic MRI in the Evaluation of the Cervical Spine in Pediatric Patients With Achondroplasia.

Masarwy A, Tuchman A, Huang J, et al.

American journal of medical genetics. Part A 2025; (197(10)):e64143 doi:10.1002/ajmg.a.64143.

Challenges and solutions in the treatment of spinal disorders in patients with skeletal dysplasia: A comprehensive review.

Tsirikos AI, Jain A, Ahuja K

World journal of methodology 2025; (15(4)):102401 doi:10.5662/wjm.v15.i4.102401.

Functional Independence Assessment in Children and Adolescents with Achondroplasia: A Multicenter Cross-Sectional Study Using the WeeFIM Scale.

Lee CL, Fang HH, Chuang CK, et al.

Diagnostics (Basel, Switzerland) 2025; (15(19)) doi:10.3390/diagnostics15192532.

Surgical and anaesthesia decision making algorithms in patients with congenital spinal stenosis: a case report of awake endoscopic decompression in a patient with achondroplasia and literature review.

Tan AKS, Tan J, Du E, et al.

European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society 2025; (34(12)):5673-5680 doi:10.1007/s00586-025-09497-2.

Cardiovascular risk in achondroplasia: a systematic review.

Lo I, Meti S, Mason A, et al.

Journal of medical genetics 2025; doi:10.1136/jmg-2025-111024.

Three-dimensional craniofacial imaging in children with achondroplasia treated with vosoritide.

Hoskens H, Aponte JD, Da Silva C, et al.

Genetics in medicine open 2025; (3()):103463 doi:10.1016/j.gimo.2025.103463.

Otologic Axis and Sleep-Disordered Breathing in Achondroplasia: Age-Structured Cohort Findings.

Popescu C, Serban RC, Mituț-Velișcu A, et al.

Healthcare (Basel, Switzerland) 2025; (14(1)) doi:10.3390/healthcare14010006.

Effect of vosoritide on spine morphology in children with achondroplasia: 1-year results from a randomized phase 2 study.

Irving M, Savarirayan R, Hoover-Fong JE, et al.

Journal of the Endocrine Society 2026; (10(3)):bvag008 doi:10.1210/jendso/bvag008.