Hemifacial microsomia (HFM) is a rare, multisystemic congenital disease with estimated frequency of 1/26370 births in Europe. Most cases are sporadic and caused by unilateral abnormal morphogenesis of the first and second pharyngeal arches. The aim of this study is to define the types and frequency of maxillofacial and systemic malformations in HFM patients. This is a case series study of patients with HFM evaluated at a single institution. Data were acquired through history, physical examination, photographs, diagnostic radiology, and laboratory and analyzed by the FileMakerPro database on 95 patients (54F; 41M) of which 89 met the inclusion criteria. Mandibular hypoplasia was observed in 86 patients with right-side preponderance (50). One patient had bilateral mandibular hypoplasia. Seventy-four had external ear anomalies (anotia or microtia). Eleven had bilateral malformed ears. Hearing impairment, associated with stenosis or atresia of the external ear canal, was found in 69 patients (eight with bilateral canal defects). Ocular anomalies were seen in 41 (23 with dermoid cysts) and 39 had orbital malformations. Facial nerve paralysis was observed in 38 patients. Cleft lip/palate (10), preauricular tags (55), and macrostomia (41) were also described. A total of 73/86 had systemic malformations, mainly vertebral (40), genitourinary (25), and cardiovascular (28). Sixteen had cerebral anomalies (four with intellectual disability). All patients suspected of HFM should undergo a complete systematic clinical and imaging investigation to define the full scope of anomalies. Since the disease is rare and complex, affected patients should be monitored by specialized multidisciplinary team centers.

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ObjectivesMalocclusion affects the psychological wellness and social interaction, impacting negatively on adolescents’ quality of life and self-esteem. Facial attractiveness is mostly based on the esthetics of the smile and patients seek orthodontic treatment mainly to improve aesthetics. The aim of this prospective clinical study is to compare the psychosocial impact of aligners (AL) and fixed appliances (FA) as orthodontic treatments in patients affected by craniofacial anomalies (CFA).Methods100 syndromic Caucasian patients with CFA followed in two different hospitals were divided in two groups: 50 patients treated with AL and 50 patients treated with FA. The two groups were matched for gender, age and CFA and filled out a modified psychosocial impact of dental aesthetics questionnaire (mPIDAQ).ResultsPatients affected by CFA treated with AL reported a better psychosocial impact than patients treated with FA, showing higher esthetic self-perception and self-esteem, lower social interaction impairments, and lower physical/practical disturbances.ConclusionsThe results of this study suggest that AL could be a valid alternative, especially in complex patients with CFA. Since AL application requires more cooperative patients the orthodontist should dedicate more time to motivate the patient to adhere to the treatment schedule.