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

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.

Congenital anomalies, 2021-09, Vol.61 (5), p.148-158 [Periódico revisado por pares]

Kyoto, Japan: John Wiley & Sons Australia, Ltd

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Título:
Craniofacial microsomia: Reflections on diagnosis and severity assessment based on a series of cases
Autor: 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.
Assuntos: 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
É parte de: Congenital anomalies, 2021-09, Vol.61 (5), p.148-158
Notas: Funding information
Coordenação de Aperfeiçoamento de Pessoal de Nível Superior, Grant/Award Number: 01‐P‐3368/2017
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SourceType-Scholarly Journals-1
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Descrição: 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.
Editor: Kyoto, Japan: John Wiley & Sons Australia, Ltd
Idioma: Inglês

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

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.

Kyoto, Japan: John Wiley & Sons Australia, Ltd

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