Description

This retrospective study shows an aggravation of craniofacial phenotypes during growth, and demonstrates an anatomo-functional correlation between the severity of midface and mandible craniofacial features and obstructive sleep apnea syndrome.

The study included 15 paediatric patients, with the aim to better characterise and quantify the skeletal craniofacial phenotype in ACH, using clinical evaluation, 2D cephalometrics and 3D geometric morphometrics.

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. 3D morphometric analyses showed that more severe craniofacial phenotypes were associated with increasing age, predominantly regarding the midface and the skull base. At the mandibular level, both the corpus and ramus showed shape modifications with age. A significant correlation was reported between the severity of maxillo-mandibular retrusion and OSA.

The study demonstrated that ACH leads to different degrees of craniofacial morphological and functional severity.