Central nervous system anomalies in craniofacial microsomia: a systematic review

Renkema, R.W.; Caron, Cornelia J.J.M.; Wolvius, Eppo B.; Dunaway, David; Forrest, Christopher R.; Padwa, Bonnie L.

doi:10.1016/j.ijom.2017.06.009

Cited by 18 publications

(12 citation statements)

References 40 publications

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“…CNS involvement has been described in OAVS, and frequencies range between 2% and 69%, 7 including brain atrophy, hypoplasia of the cerebellum, corpus callosum dysgenesis, asymmetric lateral ventricles, and aqueductal stenosis with obstructive hydrocephalus, cerebral lipomas, and cerebral hamartomas. 6,7,9,10…”

Section: Discussionmentioning

confidence: 99%

“…But indeed, neural tube defects have been rarely reported associated with OAVS, most likely because of limited MR imaging availability. However, syringomyelia, meningocele with occipital cranium bifidum, and a defective arch of C1 as well as spina bifida cystica and occulta have been described 7,11121314,16,17 with a prevalence of 1% to 31%. 9,10,17…”

Section: Discussionmentioning

confidence: 99%

“…3 Symptoms and the physical features may vary greatly in range and severity from case to case, but most often are associated with hemifacial microsomia, micrognathia, cardiac and renal defects, and skeletal and central nervous system (CNS) abnormalities. 345678 Severe OAVS has a reported incidence of 1 in 27,472 births. 9…”

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confidence: 99%

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Oculo-Auriculo-Vertebral Dysplasia With Craniocervical Instability and Occult Tethered Cord Syndrome. An Addition to the Spectrum? First Case Report and Review of the Literature

et al. 2019

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Oculo-auriculo-vertebral spectrum (OAVS) is an uncommon congenital disorder of abnormal development of the first and second pharyngeal arches. This spectrum is characterized by craniofacial microsomia, epibulbar dermoids, ear abnormalities, renal and cardiac defects, and a wide range of vertebral segmentation and formation disorders. Frequently, the cervicothoracic spine is involved. Only recently, the morbidity attributed to the spinal abnormalities has gained attention. Strategy and timing of spine surgery has become increasingly important in patients with OAVS. Here, we report a case of OAVS with characteristic vertebral cervical and thoracic involvement and its sequelae requiring multiple spinal procedures, further complexed by an unprecedented occult tethered cord syndrome, which was successfully treated by surgical detethering. In this context, the recent literature on spinal anomalies is reviewed.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Oculo-Auriculo-Vertebral Dysplasia With Craniocervical Instability and Occult Tethered Cord Syndrome. An Addition to the Spectrum? First Case Report and Review of the Literature

et al. 2019

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“…For some authors, ear anomalies must coexist with hypoplasia of facial structures, other adopts ear anomalies plus any major anomaly of craniofacial, ocular, or vertebral regions, there are those who admit isolated microtia, and the consensus by the FACIAL network (Facial Asymmetry Collaborative for Interdisciplinary Assessment and Learning) that besides the previously mentioned criteria, includes combinations of facial asymmetry, facial tags, epibulbar dermoids, macrostomia, and preauricular tags. 5,8,10,[13][14][15]17,18,26,27 Such disagreement mirrors the complexity and heterogeneity underlying CFM. It also impacts the consistency and comparability of clinic, etiopathogenic and epidemiologic studies, hampering translation of research into care.…”

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confidence: 99%

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

Bergamini

Spineli-Silva

Félix³

et al. 2021

Congenital Anomalies

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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.congenital microtia, craniofacial microsomia, oculoauriculovertebral spectrum, severity of illness index | INTRODUCTIONCraniofacial microsomia (CFM), also known as the oculo-auriculovertebral spectrum, is a term employed to group phenotypes that affect predominantly facial bones, ears, eyes, and spine. It is usual to find it described as otomandibular dysostosis, lateral facial dysplasia, hemifacial microsomia, and Goldenhar, facioauriculovertebral and first and second branchial arch syndromes. [1][2][3][4] The prevalence of CFM is estimated by 3.8 per 100 000 births according to the largest population study on the subject. 5 It has been considered the second most common craniofacial defect, behind oral clefts. 1,3,4,6 Understanding the etiology and pathogenesis of CFM remains a challenge. Most cases are sporadic and probably result from genetic susceptibility acting along with non-genetic factors. Among familial cases, it is not always possible to

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“…O desenvolvimento craniofacial é um processo morfogenético tridimensional complexo, altamente orquestrado, envolvendo centenas de genes que controlam a padronização coordenada, a diferenciação e a proliferação de tecidos de múltiplas origens embrionárias (TWIGG;WILKIE, 2015;XAVIER et al, 2016). Distúrbios no desenvolvimento normal do crânio durante a embriogênese podem manifestar-se em malformações que afetam as estruturas do crânio (ossos e sistema nervoso central) e as estruturas orofaciais (KOUSKOURA et al, 2011;RENKEMA et al, 2018).…”

Section: Introdução E Revisão De Literaturaunclassified

Microrrearranjos cromossômicos em síndromes craniofaciais complexas

Souza¹

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A Deus por cuidar de cada detalhe da minha vida, não me deixar desanimar e me carregar no colo nos momentos mais difíceis. Aos meus filhos, Maria Clara e João Gabriel, a melhor parte de mim, por seus sorrisos, beijos e abraços, por compreenderem a importância do meu trabalho e minha ausência em muitos momentos que precisaram de mim. Meu amor infinito. Aos meus pais, Adelone e Irma, pelo amor incondicional e por terem me ensinado valores como a humildade, responsabilidade, ética, respeito, gratidão, persistência e por cuidarem com todo amor dos meus filhos na minha ausência. Aos meus irmãos Ellen, Lilian, Marlon e Marcos, pela presença nos momentos difíceis, pelo apoio e pelas palavras de incentivo.

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Central nervous system anomalies in craniofacial microsomia: a systematic review

Cited by 18 publications

References 40 publications

Oculo-Auriculo-Vertebral Dysplasia With Craniocervical Instability and Occult Tethered Cord Syndrome. An Addition to the Spectrum? First Case Report and Review of the Literature

Oculo-Auriculo-Vertebral Dysplasia With Craniocervical Instability and Occult Tethered Cord Syndrome. An Addition to the Spectrum? First Case Report and Review of the Literature

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

Microrrearranjos cromossômicos em síndromes craniofaciais complexas

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