Maxillofacial features and systemic malformations in expanded spectrum Hemifacial Microsomia

Abstract

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.

Temporal bone and intracranial abnormalities in syndromic causes of hearing loss: an updated guide

“…The etiology of this syndrome remains unknown (both genetic and environmental causes have been advocated, including pathological embryonic vascular supply, drug abuse during gestation etc), it mainly involves malformations of the head and neck structures originating from first and second branchial arches at approximately 30-45 days of gestation [77,78]. Previously thought to be exclusively unilateral, it is now known that 20-30% of the patients have bilateral findings [79]. The pathological spectrum is exceptionally variable, occasionally involving structures originating behind the first and second branchial arches (e.g.…”

“…: neural tube, neural crest or notochord) [80]. Systemic manifestations are also known, including genitourinary and cardiovascular anomalies or radial ray anomalies [79].…”

Síndrome de Goldenhar y microsomía hemifacial. Revisión de la literatura

“…También se ha descrito una variedad de anormalidades genéticas. Es posible que la heterogeneidad etiológica junto con la variabilidad en la penetrancia genética y expresión puedan contribuir al amplio espectro fenotípico visto en la MCF 2,4,5 .…”

Goldenhar Syndrome with Imperforate Anus: New Association or Coincidence!

“…Gastrointestinal malformations are seen in 11.5% cases and include esophageal and duodenal atresia, esophageal and pyloric stenosis, diaphragmatic hernia and intestinal volvulus [4,5]. Cohen and colleagues described anorectal malformation in two children (out of 86) but they did not mention imperforate anus in their series [4]. To the best of our knowledge, Goldenhar syndrome with the imperforate anus is never reported in the literature and this can be a new association or coincidence.…”

“…Associated central nervous system malformations are diffuse cerebral hypoplasia, corpus callosum dysgenesis, encephalocele, Arnold-Chiari malformation, hydrocephalus, absence of septum pellucidum, holoprosencephaly and facial palsy that can lead to a varying degree of microcephaly, developmental delay and intellectual disability [1,3]. Gastrointestinal malformations are seen in 11.5% cases and include esophageal and duodenal atresia, esophageal and pyloric stenosis, diaphragmatic hernia and intestinal volvulus [4,5]. Cohen and colleagues described anorectal malformation in two children (out of 86) but they did not mention imperforate anus in their series [4].…”