Maxillofacial features and systemic malformations in expanded spectrum Hemifacial Microsomia.
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.
Department of Pediatric and Neonatology, Inter-Regional Center for Rare-Diseases, San Paolo Hospital, Savona, Italy.
Noah
N
Cohen
Department of Pediatric and Neonatology, Inter-Regional Center for Rare-Diseases, San Paolo Hospital, Savona, Italy.
Erica
E
Cohen
Department of Pediatric and Neonatology, Inter-Regional Center for Rare-Diseases, San Paolo Hospital, Savona, Italy.
Alberto
A
Gaiero
Department of Pediatric and Neonatology, Inter-Regional Center for Rare-Diseases, San Paolo Hospital, Savona, Italy.
Silvia
S
Zecca
Department of Pediatric and Neonatology, Inter-Regional Center for Rare-Diseases, San Paolo Hospital, Savona, Italy.
Graziella
G
Fichera
Department of Pediatric and Neonatology, Inter-Regional Center for Rare-Diseases, San Paolo Hospital, Savona, Italy.
Federica
F
Baldi
Department of Pediatric and Neonatology, Inter-Regional Center for Rare-Diseases, San Paolo Hospital, Savona, Italy.
Joseph Felix
JF
Giordanetto
Chirurgie Maxillo-Faciale et Stomatologie, CHU de Nantes, Nantes, France.
Jacques Marie
JM
Mercier
Department of Pediatric and Neonatology, Inter-Regional Center for Rare-Diseases, San Paolo Hospital, Savona, Italy.
Amnon
A
Cohen
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics; D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D002971:Cleft Lip / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D002972:Cleft Palate / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D004431:Ear, External / Q000002:abnormalities; D005146:Facial Asymmetry / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D006053:Goldenhar Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D007223:Infant; D008297:Male; D008334:Mandible / Q000002:abnormalities; D019767:Maxillofacial Abnormalities / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D008875:Middle Aged; D055815:Young Adult
Goldenhar; anotia; hemifacial microsomia; mandibular hypoplasia; microtia; oculoauriculovertebral spectrum