Extracraniofacial anomalies in craniofacial microsomia: retrospective analysis of 991 patients

Abstract

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.

Oculo-Auriculo-Vertebral Spectrum Associated With Aberrant Subclavian Artery in an Infant With Recurrent Respiratory Distress

“…Furthermore, since many of these malformations can be oligo/asymptomatic, recognizing them early is essential. 15 The infant’s initial additional tests identified only vertebral anomalies, since the cranial CT, the echocardiogram, and the urinary tract ultrasound were normal.…”

“…Extracraniofacial malformations, in turn, present a lower frequency, with prevalence ranging from 2-79% of patients with CFM, 15 and can include skeletal changes, malformations of the central nervous system, cardiovascular abnormalities, and, more rarely, anomalies of the urogenital tract, gastrointestinal tract, and respiratory system. 14 , 15 Some studies correlate larger craniofacial involvement with a higher frequency of extracraniofacial malformations. Furthermore, since many of these malformations can be oligo/asymptomatic, recognizing them early is essential.…”

“…Rib anomalies are rarer and may vary between agenesis, hypoplasia, and fusion. 14 , 15 , 16 The infant’s radiological evaluation was guided by the kyphoscoliosis observed in his physical examination. This examination was able to identify that the deformity was associated with two thoracic hemivertebrae.…”

Ocular and adnexal anomalies in craniofacial microsomia: Type and prevalence in a multicentre cohort study

“…34 Renkema et al found that higher OMENS-Plus nerve and soft tissue scores and higher Pruzansky-Kaban classification scores were associated with an increased risk of extracraniofacial anomalies. 35 It seems logical that patients with more severely hypoplastic facial structures are at increased risk of ocular anomalies. However, none of the proposed aetiologies of CFM fully explain the combination of anomalies observed in the clinical spectrum of CFM, or the relationships between these anomalies.…”

Whole‐exome sequencing analysis in 10 families of sporadic microtia with thoracic deformities

“…Rib cartilage anomalies have been rarely reported. Spinal deformities may occur in isolation, as well as in association with multisystem malformations such as oculo-auriculo-vertebral spectrum (Beleza-Meireles et al, 2015;Renkema et al, 2019;OAVS). In order to better understand the association between microtia and thoracic deformities, the study just focuses on those with microtia and thoracic involvement and no other feature.…”