ArticleOrphanet journal of rare diseases2023
Craniofacial growth and function in achondroplasia: a multimodal 3D study on 15 patients.
Article in Orphanet journal of rare diseases, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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7 citing papers in PubMed, 12 citations in OpenAlex.
- Clinical outcomes and bony restenosis after foramen magnum decompression for achondroplasia patients.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2026Article
- Dkk1 inhibition restores mandibular growth in an achondroplasia mouse model.Biology open · 2026Article
- Management of sleep-disordered breathing in achondroplasia: guiding principles of the European Achondroplasia Forum.Orphanet journal of rare diseases · 2025Article
- Clinical utility of trio whole exome sequencing in fetuses with ultrasound anomalies.Human genomics · 2025Article
- Three-dimensional craniofacial imaging in children with achondroplasia treated with vosoritide.Genetics in medicine open · 2025Article
- Achondroplasia: aligning mouse model with human clinical studies shows crucial importance of immediate postnatal start of the therapy.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2024Article
- Comprehensive Oral Diagnosis and Management for Women with Turner Syndrome.Diagnostics (Basel, Switzerland) · 2024Article
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Authors and funding
13 authors at 2 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
backgroundAchondroplasia is the most frequent FGFR3-related chondrodysplasia, leading to rhizomelic dwarfism, craniofacial anomalies, stenosis of the foramen magnum, and sleep apnea. Craniofacial growth and its correlation with obstructive sleep apnea syndrome has not been assessed in achondroplasia. In this study, we provide a multimodal analysis of craniofacial growth and anatomo-functional correlations between craniofacial features and the severity of obstructive sleep apnea syndrome.
methodsA multimodal study was performed based on a paediatric cohort of 15 achondroplasia patients (mean age, 7.8 ± 3.3 years), including clinical and sleep study data, 2D cephalometrics, and 3D geometric morphometry analyses, based on CT-scans (mean age at CT-scan: patients, 4.9 ± 4.9 years; controls, 3.7 ± 4.2 years).
resultsCraniofacial phenotype was characterized by maxillo-zygomatic retrusion, deep nasal root, and prominent forehead. 2D cephalometric studies showed constant maxillo-mandibular retrusion, with excessive vertical dimensions of the lower third of the face, and modifications of cranial base angles. All patients with available CT-scan had premature fusion of skull base synchondroses. 3D morphometric analyses showed more severe craniofacial phenotypes associated with increasing patient age, predominantly regarding the midface-with increased maxillary retrusion in older patients-and the skull base-with closure of the spheno-occipital angle. At the mandibular level, both the corpus and ramus showed shape modifications with age, with shortened anteroposterior mandibular length, as well as ramus and condylar region lengths. We report a significant correlation between the severity of maxillo-mandibular retrusion and obstructive sleep apnea syndrome (p < 0.01).
conclusionsOur study shows more severe craniofacial phenotypes at older ages, with increased maxillomandibular retrusion, and demonstrates a significant anatomo-functional correlation between the severity of midface and mandible craniofacial features and obstructive sleep apnea syndrome.
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