Craniofacial microsomia – more than a structural malformation

Kuu‐Karkku, Louhi; Suominen, Auli; Svedström-Oristo, Anna-Liisa

doi:10.1111/ocr.12592

Cited by 5 publications

(2 citation statements)

References 24 publications

(77 reference statements)

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“…A recent Finnish study has highlighted the increased need for psychiatric support in both childhood and adolescence as well as in adults affected by craniofacial microsomia. 23 Many patients have hearing and speech impairments accompanying the craniofacial malformations which can trigger social biases associated with poor acceptance by peers. 14 This can lead to complicated social interactions including those with teachers and other caregivers.…”

Section: Discussionmentioning

confidence: 99%

Orthodontic considerations for patients presenting with Goldenhar Syndrome: A long-term case report

Fowler

Gray²,

Haworth

2023

Australasian Orthodontic Journal

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Introduction The correction of facial asymmetry in patients presenting with Goldenhar Syndrome can be challenging due to the complexity of the orthodontic and surgical procedures required, the psychosocial considerations of the patient and the risk of relapse. Materials and methods A Caucasian male with Goldenhar Syndrome originally presented at age 8.2 years with concerns relating to a poor bite. He had previously undertaken surgery for the removal of pre-auricular skin tags on the right side. With ongoing skeletal growth, the facial asymmetry became more obvious and caused the patient to become socially withdrawn. Multidisciplinary treatment involving orthodontics and orthognathic surgery to correct the mandibular asymmetry was delayed until facial growth had slowed. The correction involved the use of an asymmetrical bilateral sagittal split osteotomy and an advancement genioplasty followed by a dermal fat graft and MedporR onlay to the right mandibular body and angle in addition to a refinement genioplasty. Results Follow-up has revealed a partial return of a buccal openbite illustrating the risk of occlusal relapse. Conclusion The case report illustrates the complexity of the orthodontic and surgical management of facial asymmetry, the psychosocial considerations of the patient and the risk of relapse. Multidisciplinary management is essential in the management of Goldenhar Syndrome.

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Section: Discussionmentioning

confidence: 99%

Orthodontic considerations for patients presenting with Goldenhar Syndrome: A long-term case report

Fowler

Gray²,

Haworth

2023

Australasian Orthodontic Journal

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“…Ear malformations are characteristic of CFM, ranging from microtia or incomplete auricles to preauricular skin tags. In addition, severe CFM phenotypes can include epibulbar dermoids, vertebral malformations, and lung, brain, and urogenital abnormalities, forming a syndrome (Kuu‐Karkku et al, 2023 ). The pathogenesis of CFM is complex and is related to neural crest (NC) cells migration and patterning, fibroblast growth factor receptor signal transduction, ribosomal assembly, and abnormal chromatin modification (Gebuijs et al, 2022 ; Park et al, 2022 ; Pulman et al, 2019 ; Shull et al, 2020 ).…”

Section: Introductionmentioning

confidence: 99%

Clinical report and genetic analysis of a Chinese neonate with craniofacial microsomia caused by a splicing variant of the splicing factor 3b subunit 2 gene

Zhang

Dai

et al. 2023

Molec Gen & Gen Med

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BackgroundCraniofacial microsomia (CFM) is a common congenital malformation with unknown pathogenesis. Although few cases have been reported, it is suggested that variants of the SF3B2 gene may lead to CFM. We herein report the case of a neonate with CFM exhibiting rare features of airway obstruction.MethodsTrio whole‐exome sequencing and Sanger validation were performed on the proband and her parents. Candidate gene mutations were analyzed using the Genome Aggregation Database (gnomAD) for normal frequency distributions. The Human Splicing Finder (HSF) and Rare Disease Data Center (RDDC) RNA splicer algorithms predicted the variant's harmfulness, verified by a Minigene assay.ResultsThe proband had a heterozygous SF3B2 variant, NM_006842.3:c.777+1G>A. The patient's father also carried this variant and exhibited facial abnormalities. The variant was not in gnomAD, and HSF and RDDC RNA splicers indicated donor site disruption. The minigene assay suggested that two mRNA products were produced, leading to a premature termination codon.ConclusionFor this family, the pathogenesis of CFM may have been caused by an SF3B2 splicing variant. Affected family members exhibited varying degrees of malformation, indicating that CFM has phenotypic heterogeneity. This finding expands the phenotype and variant spectrum of SF3B2, enriches neonatal CFM research, and provides a possible guide to genetic counseling.

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Craniofacial microsomia – more than a structural malformation

Kuu‐Karkku

Suominen

Svedström-Oristo

2022

Orthod Craniofacial Res

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Craniofacial microsomia (CFM) is the second most common congenital facial deformity after cleft lip and cleft palate. It is a developmental disorder in structures originating from the first and second pharyngeal arches during the 4th and 6th weeks of pregnancy. Its distinctive features are underdevelopment of the mandible and/or maxilla, ear, orbit, facial soft tissue and facial nerve. CFM occurs most often on the right side of the face. In approximately 10% of cases, the disorder occurs bilaterally. Depending on the severity, CFM can cause problems in nutrition intake, breathing, hearing and facial muscle function. Furthermore, it can be related to epibulbar dermoids, vertebral malformations, cardiovascular malformations and malformations in lungs, brain and genitourinary system. 1-5 Fan

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Craniofacial microsomia – more than a structural malformation

Cited by 5 publications

References 24 publications

Orthodontic considerations for patients presenting with Goldenhar Syndrome: A long-term case report

Orthodontic considerations for patients presenting with Goldenhar Syndrome: A long-term case report

Clinical report and genetic analysis of a Chinese neonate with craniofacial microsomia caused by a splicing variant of the splicing factor 3b subunit 2 gene

Craniofacial microsomia – more than a structural malformation

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