Clinical care in craniofacial microsomia: A review of current management recommendations and opportunities to advance research

Heike, Carrie L.; Hing, Anne V.; Aspinall, Clare; Bartlett, Scott P.; Birgfeld, Craig B.; Drake, Amelia F.; Pimenta, Luiz André Freire; Sie, Kathleen C.Y.; Urata, Mark M.; Vivaldi, Daniela; Luquetti, Daniela V

doi:10.1002/ajmg.c.31373

Cited by 53 publications

(57 citation statements)

References 106 publications

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“…In children with conductive hearing loss, high resolution CT examination of the temporal bone is useful for evaluating the middle and inner ear structures when the child is of preschool or school age. Renal ultrasound, cardiovascular examination at diagnosis, and cervical spine films at the age of 3 years are also recommended (25). Treatment for atresia should be considered in the context of hearing, speech and language development, and reconstructive surgery at school age (approximately at age 10 years).…”

Section: Discussionmentioning

confidence: 99%

The Association of External and Middle Ear Anomaly and Mandibular Morphology in Congenital Microtia

Takano

Takahashi²,

Ogasawara³

et al. 2016

Otology &Amp; Neurotology

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Section: Discussionmentioning

confidence: 99%

The Association of External and Middle Ear Anomaly and Mandibular Morphology in Congenital Microtia

Takano

Takahashi²,

Ogasawara³

et al. 2016

Otology &Amp; Neurotology

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“…Oculo‐auricular‐vertebral spectrum (OAVS) or hemifacial microsomia (OMIM 164210) is a heterogeneous disorder involving first and second branchial arch derivatives …”

Section: Other Genetic Syndromes Associated With Cardiac Anomaliesmentioning

confidence: 99%

Fetal cardiac abnormalities: Genetic etiologies to be considered

et al. 2019

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Congenital heart diseases are a common prenatal finding. The prenatal identification of an associated genetic syndrome or a major extracardiac anomaly helps to understand the etiopathogenic diagnosis. Besides, it also assesses the prognosis, management, and familial recurrence risk while strongly influences parental decision to choose termination of pregnancy or postnatal care. This review article describes the most common genetic diagnoses associated with a prenatal finding of a congenital heart disease and a suggested diagnostic process.

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“…Although rare, there is a subset of CFM families that have been reported with an autosomal dominant inheritance pattern, yet the majority of cases are sporadic in nature . The phenotypic spectrum of CFM overlaps with that of the conditions such as Occulo‐Auriculo‐Vertebral Spectrum (OAVS), Goldenhar Syndrome, Occulo‐Auriculo‐Vertebral Dysplasia, and Facio‐Auriculo‐Vertebral Sequence, hence these terms are often used interchangeably …”

Section: Introductionmentioning

confidence: 99%

A novel nonsense substitution identified in the AMIGO2 gene in an Occulo‐Auriculo‐Vertebral spectrum patient

Farrow

et al. 2019

Orthod Craniofacial Res

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Structured Abstract Objective Craniofacial microsmia is the second most common congenital disorder with mostly unilateral defects of ear, temporomandibular joint, mandible, and muscles of facial expression and mastication. The objective of this study was to identify, if there were any, de novo germline or somatic variants in a patient with Occulo‐Auriculo‐Vertebral Spectrum (OAVS) using whole‐exome sequencing. Settings and Sample Population Trio/Family‐based study of an OAVS proband. Materials and Methods Children's Mercy Hospital Institutional Review Board approved this study and a request‐to‐rely was procured from the University of Missouri Kansas City IRB. Informed assent/consent was obtained for all family members prior to any research activities. The peripheral blood/affected side tissues from corrective surgery of the proband and peripheral blood samples from unaffected parents were collected. The isolated genomic DNA were enriched for exomes and sequenced on an Illlumina HiSeq 2500 instrument yielding paired‐end 125 nucleotide reads (84X coverage). Gapped alignment to reference sequences (GRCh37.p5) was performed with BWA and the GATK and analysis completed using custom‐developed software. Results Analyses revealed that the proband carried a de novo germ line nonsense substitution (c.901C>T) in AMIGO2 gene, and missense substitutions in ZCCHC14 (c.1198C>T), and in SZT2 genes (c.2951C>T). Conclusions The nonsense substitution in AMIGO2 gene introduces a premature stop codon possibly rendering the gene non‐functional via nonsense‐mediated pathway decay—therefore considered a stronger candidate. Further functional studies are required to confirm whether loss‐of‐function variants in AMIGO2 can cause OAVS.

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Clinical care in craniofacial microsomia: A review of current management recommendations and opportunities to advance research

Cited by 53 publications

References 106 publications

The Association of External and Middle Ear Anomaly and Mandibular Morphology in Congenital Microtia

The Association of External and Middle Ear Anomaly and Mandibular Morphology in Congenital Microtia

Fetal cardiac abnormalities: Genetic etiologies to be considered

A novel nonsense substitution identified in the AMIGO2 gene in an Occulo‐Auriculo‐Vertebral spectrum patient

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