Craniofacial growth and function in achondroplasia: a multimodal 3D study on 15 patients

Abstract

Background Achondroplasia 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. Methods A 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). Results Craniofacial 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). Conclusions Our 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.

Dynamic Morphological Growth Trajectory of Crouzon Population: A Geometric Morphometric Analysis

“…GM is an advanced coordinated-based statistical methodology widely applied in various fields, including comparative biology, paleontology, forensic science, and craniomaxillofacial surgery. [10][11][12][13] Compared with traditional cephalometric and volumetric methodologies, GM is regarded to have great advantages for multivariate analysis, control of the size and position of structures, dynamic visualization, and synthesis of theoretical morphology, 19,20 allowing a more holistic characterization of the complex craniofacial phenotype and dynamic insight of morphological variation in a precise and perceptual way.…”

“…10 It has been widely applied and recognized in the fields of evolutionary biology, paleontology, zoology, and anthropology. [10][11][12][13] In craniomaxillofacial surgery, GM has been proven to be efficient in studying craniofacial and calvarial effects of unilateral craniosynostosis, 14 the relationship between craniofacial shape and malocclusion, 15 and maxillary protraction on the maxillofacial complex in patients with malocclusion. 16 To the best of our knowledge, there is still an academic paucity of research on visualizing dynamic morphological growth trajectories with GM in the Crouzon population.…”

Correlation analysis of airway‐facial phenotype in Crouzon syndrome by geometric morphometrics: A promising method for non‐radiation airway evaluation

“…Geometric morphometric analysis (GM) is an advanced coordinated‐based statistical methodology widely applied in multiple fields, such as comparative biology, palaeontology, forensic science and craniomaxillofacial surgery 18–21 . Compared to traditional cephalometric and volumetric methodologies, GM has great advantages for multivariate analysis, control of the size and position of structures, dynamic visualization and synthesis of morphology, 30,31 allowing a more holistic characterization of the complex craniofacial phenotype and comprehensive insight between morphological variation and variables in a precise and perceptual way.…”

“…Geometric morphometric analysis is a useful statistical methodology for quantifying and visualizing morphological variation and growth trajectories 18 in a more objective and perceptual way. It has been widely applied and recognized in the fields of evolutionary biology, palaeontology, zoology and anthropology, especially in craniomaxillofacial surgery 18–21 . This study aimed to verify the correlation of the airway‐facial phenotype and visualize the morphological changes associated with geometric morphometrics in Crouzon syndrome patients.…”

Changes in the Shape of Craniofacial Skeleton in Children Prenatally Exposed To Anticonvulsant Drugs: a Geometric Morphometric Study

“…These results enabled to predict during the growth the increase of morphological differences on ve anatomical regions located on the skull and the mandible. 40 A recent study completed by Holmes et al concluded that anticonvulsant-exposed children with the characteristic dysmorphic facial features, particularly a shorter nose, were more likely to have de cits in cognitive function. 16 The IQ scores were subdivided into full scale IQ, verbal IQ and performance IQ.…”