Craniofacial microsomia (CFM) is characterized by a unilateral or bilateral underdevelopment of the facial structures arising from the first and second pharyngeal arches, but extracraniofacial anomalies may be present. This retrospective study provides an overview of the prevalence and types of extracraniofacial anomalies in patients with CFM and studied the characteristics of patients with CFM and extracraniofacial anomalies. All patients diagnosed with CFM seen in four craniofacial centers were included. Patients charts were reviewed and data on patient characteristics and extracraniofacial anomalies were extracted. A total of 991 patients were included. Forty-six percent of the patients had extracraniofacial anomalies. The prevalence of extracraniofacial anomalies in all various tracts was: vertebral 28%, central nervous system 11%, circulatory system 21%, respiratory tract 3%, gastro-intestinal tract 9%, and urogenital tract 11%. Patients with an extracraniofacial anomaly had a higher risk for having additional extracraniofacial anomalies in other tracts compared to patients without extracraniofacial anomalies. The prevalence of extracraniofacial anomalies was greater in patients with bilateral CFM, a more severe mandibular deformity or facial nerve or soft tissue deformity. Patients with CFM should be screened for extracraniofacial anomalies by psychical examination with specific attention aimed at the circulatory, renal, and neurological tracts. Diagnostically, electrocardiography, echocardiogram, spine radiography and a renal ultrasound should be obtained in patients at risk for extracraniofacial anomalies.
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