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Journal of Surgical Case Reports May 2020Mild- to moderate-sized lip defects that affect one- to two-thirds of the total lip length often require that utilization of local soft tissue rearrangement in order to...
Mild- to moderate-sized lip defects that affect one- to two-thirds of the total lip length often require that utilization of local soft tissue rearrangement in order to re-establish lip anatomy, function and esthetics. The use of local flaps in lip reconstruction often follows oncologic resection of common skin malignancies including basal cell carcinoma and squamous cell carcinoma. When considering the types of flaps to use for lip defects of one- to two-third total length, a variety of flaps designs have been described, each with its benefits in drawbacks. In this article, we reintroduce the use and value of the bilateral mucomyocutaneous 'bandoneon' flaps for lower lip reconstruction in two of our patients. When compared with other flap designs, it can be used as a single-stage procedure with a very good esthetic outcome, minimal to no microstomia and preservation of lip competence and sensory function.
PubMed: 32477486
DOI: 10.1093/jscr/rjaa082 -
Dental Research Journal 2020Microstomic patients may experience a significant limitation in the mandibular opening. The prosthetic rehabilitation of microstomic patients presents difficulties at...
Microstomic patients may experience a significant limitation in the mandibular opening. The prosthetic rehabilitation of microstomic patients presents difficulties at all stages, from preliminary impressions to prosthetic fabrication. This clinical report described the method of fabrication of sectional denture for patients with microstomia caused by burns. The denture was fabricated in two pieces, and patients inserted and removed the denture easily.
PubMed: 32435440
DOI: No ID Found -
Archives of Craniofacial Surgery Apr 2020Stevens-Johnson syndrome (SJS) is a rare disease in which extensive toxic epidermolysis occurs after medication. Skin and mucous membranes are involved in about 90% of...
Stevens-Johnson syndrome (SJS) is a rare disease in which extensive toxic epidermolysis occurs after medication. Skin and mucous membranes are involved in about 90% of SJS cases, and webbing of mouth corners (microstomia) may occur when they are affected. Few reports have been issued on microstomia in SJS, and no consensus has been reached regarding treatment methods, timings, or results. We encountered a case of microstomia following SJS after ofloxacin medication in a 22-year-old woman treated by commissuroplasty using a lozenge-shaped excision. We present an appropriate correction method and surgical timing for microstomia following SJS.
PubMed: 32380813
DOI: 10.7181/acfs.2019.00759 -
Journal of Medicine and Life 2020Children suffering from conductive or mixed hearing loss may benefit from a bone-anchored hearing aid system (BAHA Attract implantable prosthesis). After audiological...
Children suffering from conductive or mixed hearing loss may benefit from a bone-anchored hearing aid system (BAHA Attract implantable prosthesis). After audiological rehabilitation, different aspects of development are improving. The objective of this case report is to propose a comprehensive framework for monitoring cortical auditory function after implantation of a bone-anchored hearing aid system by using electrophysiological and neuropsychological measurements. We present the case of a seven-year-old boy with a congenital hearing loss due to a plurimalformative syndrome, including outer and middle ear malformation. After the diagnosis of hearing loss and the audiological rehabilitation with a BAHA Attract implantable prosthesis, the cortical auditory evoked potentials were recorded. We performed a neuropsychological evaluation using the Wechsler Intelligence Scale for Children - Fourth Edition, which was applied according to a standard procedure. The P1 latency was delayed according to the age (an objective biomarker for quantifying cortical auditory function). The neuropsychological evaluation revealed that the child's working memory and verbal reasoning abilities were in the borderline range comparing with his nonverbal reasoning abilities and processing abilities, which were in the average and below-average range, respectively. Cortical auditory evoked potentials, along with neuropsychological evaluation, could be an essential tool for monitoring cortical auditory function in children with hearing loss after a bone-anchored hearing aid implantation.
Topics: Auditory Cortex; Child; Ear, External; Electrophysiological Phenomena; Evoked Potentials; Hearing Aids; Humans; Jaw Abnormalities; Male; Microstomia
PubMed: 32341710
DOI: 10.25122/jml-2019-0097 -
Anesthesia Progress 2020Systemic sclerosis (SSc) is an autoimmune disease that can cause fibrosis in vital organs, often resulting in damage to the skin, blood vessels, gastrointestinal system,...
Systemic sclerosis (SSc) is an autoimmune disease that can cause fibrosis in vital organs, often resulting in damage to the skin, blood vessels, gastrointestinal system, lungs, heart, and/or kidneys. Patients with SSc are also likely to develop microstomia, which can render dental treatment difficult and painful, thereby necessitating advanced anesthetic management. This is a case report of a 61-year-old woman with a history of SSc with microstomia, interstitial pneumonia, and gastroesophageal reflux disease in whom intravenous moderate sedation was performed using a combination of dexmedetomidine and ketamine for dental extractions. Both anesthetic agents are known to have analgesic effects while minimizing respiratory depression. Consequently, the increased discomfort caused by opening the patient's mouth and stretching the buccal mucosa was sufficiently managed, permitting an increase in maximum interincisal opening and completion of treatment without complications. Patients with SSc present with serious comorbidities that can negatively impact anesthetic management, so the implementation of an anesthetic plan that takes such risks into account is required. Furthermore, emergency airway management is likely to be difficult in patients with microstomia. For intravenous moderate sedation, combined use of dexmedetomidine and ketamine, which have analgesic effects while minimizing respiratory depression, may be particularly effective in patients with SSc and microstomia.
Topics: Anesthetics; Female; Humans; Ketamine; Microstomia; Middle Aged; Scleroderma, Systemic
PubMed: 32191504
DOI: 10.2344/anpr-66-03-07 -
Autopsy & Case Reports 2020
PubMed: 32185147
DOI: 10.4322/acr.2020.152 -
American Journal of Medical Genetics.... May 2020Craniofacial morphogenesis is regulated in part by signaling from the Endothelin receptor type A (EDNRA). Pathogenic variants in EDNRA signaling pathway components...
Craniofacial morphogenesis is regulated in part by signaling from the Endothelin receptor type A (EDNRA). Pathogenic variants in EDNRA signaling pathway components EDNRA, GNAI3, PCLB4, and EDN1 cause Mandibulofacial Dysostosis with Alopecia (MFDA), Auriculocondylar syndrome (ARCND) 1, 2, and 3, respectively. However, cardiovascular development is normal in MFDA and ARCND individuals, unlike Ednra knockout mice. One explanation may be that partial EDNRA signaling remains in MFDA and ARCND, as mice with reduced, but not absent, EDNRA signaling also lack a cardiovascular phenotype. Here we report an individual with craniofacial and cardiovascular malformations mimicking the Ednra mouse phenotype, including a distinctive micrognathia with microstomia and a hypoplastic aortic arch. Exome sequencing found a novel homozygous missense variant in EDNRA (c.1142A>C; p.Q381P). Bioluminescence resonance energy transfer assays revealed that this amino acid substitution in helix 8 of EDNRA prevents recruitment of G proteins to the receptor, abrogating subsequent receptor activation by its ligand, Endothelin-1. This homozygous variant is thus the first reported loss-of-function EDNRA allele, resulting in a syndrome we have named Oro-Oto-Cardiac Syndrome. Further, our results illustrate that EDNRA signaling is required for both normal human craniofacial and cardiovascular development, and that limited EDNRA signaling is likely retained in ARCND and MFDA individuals. This work illustrates a straightforward approach to identifying the functional consequence of novel genetic variants in signaling molecules associated with malformation syndromes.
Topics: Animals; Craniofacial Abnormalities; Ear; Ear Diseases; GTP-Binding Protein alpha Subunits, Gi-Go; Gene Expression Regulation, Developmental; Genetic Predisposition to Disease; Humans; Loss of Function Mutation; Mandibulofacial Dysostosis; Mice; Mice, Knockout; Morphogenesis; Neural Crest; Phenotype; Receptor, Endothelin A; Signal Transduction
PubMed: 32133772
DOI: 10.1002/ajmg.a.61531 -
Molecular Genetics & Genomic Medicine Apr 2020Agnathia-otocephaly is a rare and lethal anomaly affecting craniofacial structures derived from the first pharyngeal arch. It is characterized by agnathia, microstomia,...
BACKGROUND
Agnathia-otocephaly is a rare and lethal anomaly affecting craniofacial structures derived from the first pharyngeal arch. It is characterized by agnathia, microstomia, aglossia, and abnormally positioned auricles with or without associated anomalies. Variants affecting function of OTX2 and PRRX1, which together regulate the neural crest cells and the patterning of the first pharyngeal arch as well as skeletal and limb development, were identified to be causal for the anomaly in a few patients.
METHODS
Family-based exome sequencing (ES) on a fetus with severe agnathia-otocephaly, cheilognathopalatoschisis, laryngeal hypoplasia, fused lung lobes and other organ abnormalities and mRNA expression analysis were performed.
RESULTS
Exome sequencing detected a de novo SMAD3 missense variant in exon 6 (c.860G>A) associated with decreased mRNA expression. Variants in SMAD3 cause Loeys-Dietz syndrome 3 presenting with craniofacial anomalies such as mandibular hypoplasia, micro- or retro-gnathia, bifid uvula and cleft palate as well as skeletal anomalies and arterial tortuosity. The SMAD3 protein acts as a transcriptional regulator in the transforming growth factor β (TGFB) and bone morphogenetic (BMP) signaling pathways, which play a key role in the development of craniofacial structures originating from the pharyngeal arches.
CONCLUSION
Agnathia-otocephaly with or without associated anomalies may represent the severe end of a phenotypic spectrum related to variants in genes in the interacting SMAD/TGFB/BMP/SHH/FGF developmental pathways.
Topics: Craniofacial Abnormalities; Fetus; Genetic Testing; Humans; Loss of Function Mutation; Phenotype; Smad3 Protein; Ultrasonography, Prenatal; Exome Sequencing
PubMed: 32100971
DOI: 10.1002/mgg3.1178 -
Acta Veterinaria Scandinavica Jan 2020Otocephaly is a rare lethal malformation of the first branchial arch. While the knowledge on the causes of otocephaly in animals is limited, different syndromic forms in...
BACKGROUND
Otocephaly is a rare lethal malformation of the first branchial arch. While the knowledge on the causes of otocephaly in animals is limited, different syndromic forms in man are associated with variants of the PRRX1 and OTX2 genes.
CASE PRESENTATION
A stillborn male lamb of the Istrian Pramenka sheep breed showed several congenital craniofacial anomalies including microstomia, agnathia, aglossia, and synotia. In addition, the lamb had a cleft palate, a small opening in the ventral neck region, a cystic oesophagus and two hepatic cysts. The brain was normally developed despite the deformed shape of the head. Taken together the findings led to a diagnosis of otocephaly. Whole-genome sequencing was performed from DNA of the affected lamb and both parents revealing a heterozygous single nucleotide variant in the OTX2 gene (Chr7: 71478714G > A). The variant was absent in both parents and therefore due to a de novo mutation event. It was a nonsense variant, XM_015097088.2:c.265C > T; which leads to an early premature stop codon and is predicted to truncate more than 70% of the OTX2 open reading frame (p.Arg89*).
CONCLUSIONS
The genetic findings were consistent with the diagnosis of the otocephaly and provide strong evidence that the identified loss-of-function variant is pathogenic due to OTX2 haploinsufficiency. The benefits of trio-based whole-genome sequencing as an emerging tool in veterinary pathology to confirm diagnosis are highlighted.
Topics: Animals; Craniofacial Abnormalities; Genetic Variation; Mutation; Otx Transcription Factors; Sheep; Sheep Diseases
PubMed: 31969185
DOI: 10.1186/s13028-020-0503-z -
Maxillofacial Plastic and... Dec 2019Transverse facial clefts are Tessier's number 7 facial cleft among numbers 1-15 in Tessier's classification of craniofacial malformations, which varies from a simple...
BACKGROUND
Transverse facial clefts are Tessier's number 7 facial cleft among numbers 1-15 in Tessier's classification of craniofacial malformations, which varies from a simple widening oral commissure to a complete fissure extending towards the external ear.
CASE PRESENTATION
In a patient with a transverse facial cleft, to functionally arrange the orbicularis oris muscle and form the oral commissure naturally, we performed a surgical procedure including orbicularis oris muscle reconstruction and cheiloplasty with Z-plasty.
CONCLUSION
We achieved good results functionally and esthetically by orbicularis oris muscle reconstruction and cheiloplasty with Z-plasty. The surgical modality of our anatomical repair and 3 months follow-up results are presented.
PubMed: 31844633
DOI: 10.1186/s40902-019-0240-2