Determination of Extra Craniofacial Abnormalities in Patients With Craniofacial Microsomia

Abstract

Introduction: Craniofacial microsomia (CFM) is caused by abnormalities in the development of the first and second pharyngeal arches. One-third to half of the patients with CFM also present with extra craniofacial (ECF) malformations. The knowledge of the visceral alteration related to CFM is vital for optimized care and a better prognosis. Aim: To describe the incidence of ECF malformations in patients with CFM and to infer if there was a correlation between CFM and ECF malformations. Materials and Methods: The authors analyzed medical records of patients diagnosed with CFM from 1996 to 2006. The data collected included age, gender, category of craniofacial alteration, and the type of ECF malformation when present. The sample was inspected to find possible correlations between craniofacial abnormalities and ECF malformations. Results: The sample included 102 patients, with a mean age of 7 years and a predominance of males (61.8%). Ear malformations (93.1%) followed by mandible (59.8%) and facial nerve (10.8%) abnormalities were the most common CFM. Among patients with CFM, 37.2% had ECF involvement, mainly in vertebrae (20%), heart (11%), and limbs (9.8%). Multivariate analysis revealed that the presence of ear malformations was related to a higher incidence of nonspecific visceral malformations (P ¼ 0.034) and that mandible malformation was related to an increased incidence of vertebral malformations (P ¼ 0.008). Conclusion: A significant percentage of patients with CFM presented associated ECF impairment. Ear and mandible involvement may be predictors of nonspecific visceral malformation and vertebral malformations, respectively.

Three-dimensional Hemifacial Microsomia Classification with New Subtypes Based on the Pruzansky and Kaban Classification

“…Heart malformation (15.3%), spine, chest, limb, and finger malformations (7.4%) were also accompanied by microtia in ECM. Raposo et al 15 showed that the ear malformations (93.1%) followed by mandible (59.8%) and facial nerve (10.8%) abnormalities were the most common CFM. Among patients, 37.2% had ECM involvement, mainly in vertebrae (20%), heart (11%), and limbs (9.8%).…”

Characterizing Speech Phenotype in Individuals With Craniofacial Microsomia: A Scoping Review

“…This condition primarily affects the ear, mandible, tongue, face, and larynx ( Caron, Pluijmers, Wolvius, et al, 2017 ; Carvalho et al, 1999 ; Grabb, 1965 ; Poswillo, 1988 ). Eye, vertebral, and other extracraniofacial anomalies may also be present ( Caron, Pluijmers, Wolvius, et al, 2017 ; Raposo et al, 2022 ; Renkema et al, 2017 , 2018 ; Rooijers et al, 2020 ; Yang et al, 2016 ). Because of the complex presentation of both anatomic and functional findings, multidisciplinary craniofacial care throughout childhood is recommended for children with CFM ( Heike et al, 2013 ; Ronde et al, 2023 ; Vong & Funamura, 2018 ).…”