Craniofacial microsomia: Reflections on diagnosis and severity assessment based on a series of cases

This study aims to discuss diagnostic criteria and severity assessment for craniofacial microsomia (CFM). A series of 61 patients with diverse CFM phenotypes had their clinical data collected by experienced dysmorphologists using a single protocol. Genetic abnormalities were searched through karyoty...

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Bibliographic Details
Published in:Congenital anomalies 2021-09, Vol.61 (5), p.148-158
Main Authors: Bergamini, Luna Lira, Spineli‐Silva, Samira, Félix, Têmis Maria, Gil‐da‐Silva‐Lopes, Vera L., Vieira, Tarsis P., Ribeiro, Erlane Marques, Xavier, Ana Carolina, Lustosa‐Mendes, Elaine, Fontes, Marshall Ítalo Barros, Monlleó, Isabella L.
Format: Article
Language:English
Subjects:
Abnormalities
Anomalies
congenital microtia
craniofacial microsomia
Criteria
Deafness
Diagnostic systems
Ear
Face
Genetic abnormalities
Goldenhar Syndrome - diagnosis
Goldenhar Syndrome - genetics
Heart Defects, Congenital
Humans
Karyotypes
Microcephaly
Microencephaly
oculoauriculovertebral spectrum
Patients
Phenotypes
Risk analysis
Risk factors
severity of illness index
Sex ratio
Spine
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Summary:This study aims to discuss diagnostic criteria and severity assessment for craniofacial microsomia (CFM). A series of 61 patients with diverse CFM phenotypes had their clinical data collected by experienced dysmorphologists using a single protocol. Genetic abnormalities were searched through karyotype and chromosomal microarray analysis. Sex ratio, prenatal risk factors, and recurrence rate corroborated the literature. Despite the wide variability of clinical findings, ear disruption was universal. Eight patients were assigned as syndromic, four of whom had demonstrable genetic alterations. The majority of patients (67.2%) fulfilled four known diagnostic criteria, while 9.8% fulfilled one of them. Data strengthened disruptions of the ear and deafness as a semiotically valuable sign in CFM. Facial impairment should consider asymmetry as a mild expression of microsomia. Spinal and cardiac anomalies, microcephaly, and developmental delay were prevalent among extra craniofacial features and should be screened before planning treatment and follow up. The severity index was able to recognize the less and the most affected patients. However, it was not useful to support therapeutic decisions and prognosis in the clinical scenario due to syndromic and non‐syndromic phenotypes overlapping. These issues make contemporary the debate on diagnostic methods and disease severity assessment for CFM. They also impact care and etiopathogenetic studies.
ISSN:0914-3505
1741-4520
DOI:10.1111/cga.12422