813 results match your criteria Congenital Facial Paralysis


Moebius sequence: radiological approximations to molecular disturbances: an overview.

Radiol Case Rep 2020 Aug 14;15(8):1225-1230. Epub 2020 Jun 14.

Radiology Department, Fundación Valle del Lili, Cali, Colombia.

Moebius sequence is one of the rarest congenital cranial nerve abnormalities. Approximately 300 cases have been recorded in medical literature usually from single case report. Frequently characterized by either partial or complete agenesis of the VI and VII cranial nerves, Moebius sequence is also accompanied by vascular abnormalities and other alterations such as an aberrant or hypoplastic posterior fossa. Read More

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http://dx.doi.org/10.1016/j.radcr.2020.05.032DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7301170PMC

Clinical signs, MRI findings and outcome in dogs with peripheral vestibular disease: a retrospective study.

BMC Vet Res 2020 May 25;16(1):159. Epub 2020 May 25.

Department of Small Animal Clinical Science, Institute of Veterinary Science, University of Liverpool, Neston, CH64 7TE, UK.

Background: Vestibular dysfunction is relatively common in dogs, with a prevalence of 0.08% reported in primary veterinary care in the UK. There are several studies investigating how to differentiate between peripheral and central vestibular disease but only limited information regarding the possible underlying causes for peripheral vestibular dysfunction in dogs. Read More

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http://dx.doi.org/10.1186/s12917-020-02366-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7249679PMC

Percutaneous device closure of pediatirc patent ductus arteriosus through femoral artery guidance by transthoracic echocardiography without radiation and contrast agents.

J Cardiothorac Surg 2020 May 24;15(1):107. Epub 2020 May 24.

Department of Echocardiography, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, 100045, China.

Background: For many years, percutaneous interventional occlusion of congenital patent ductus arteriosus (PDA) has been completed using radiation and contrast agents. In this study, transthoracic echocardiography without radiation and contrast agents was used to complete percutaneous occlusion of pediatric PDA.

Methods: Thirty-two children (8 males and 24 females) with normal heart function and no other intracardiac deformities were diagnosed with PDA (20 funnel type; 12 tube type), One patient had peripheral facial paralysis, 1 patient had epilepsy, and 1 case had multiple cervical deformities. Read More

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http://dx.doi.org/10.1186/s13019-020-01119-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7245820PMC
May 2020
1.018 Impact Factor

Mutations and Their Clinical Presentations: New Case Report and Systematic Review.

Case Rep Med 2020 13;2020:8795607. Epub 2020 Apr 13.

School of Medicine, Lebanese University, Beirut, Lebanon.

Lethal congenital contracture syndrome type 7 (LCCS7) and congenital hypomyelinating neuropathy type 3 (CHN3) are rare autosomal recessive diseases, characterized by severe neonatal hypotonia, polyhydramnios, arthrogryposis, facial diplegia, and severe motor paralysis, leading to death in early infancy. They are related to mutations in the (contactin associated protein 1) gene, playing an important role in myelination. Recent studies have shown that both diseases could present with a wide phenotypic spectrum, with promising survival up to early childhood. Read More

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http://dx.doi.org/10.1155/2020/8795607DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7174947PMC

Middle ear congenital cholesteatoma: systematic review, meta-analysis and insights on its pathogenesis.

Eur Arch Otorhinolaryngol 2020 Apr 18;277(4):987-998. Epub 2020 Jan 18.

Department of Otorhinolaryngology, Centro Hospitalar de Lisboa Ocidental, Nova Medical School, New University of Lisbon, Lisbon, Portugal.

Purpose: Congenital cholesteatoma (CC) presents as a white pearl-like lesion behind a normal tympanic membrane (TM), without a history of otorrhea, infection, perforation or previous otologic surgery. Several recent studies provided new data improving this pathology characterization. The aim of this paper is to expand the knowledge about CC and to provide new insights on its pathogenesis. Read More

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http://dx.doi.org/10.1007/s00405-020-05792-4DOI Listing

Phenotypic spectrum of neonatal CHARGE syndrome.

Rev Chil Pediatr 2019 Oct;90(5):533-538

División de Pediatría, Facultad de Medicina, Pontificia Universidad Católica de Chile, Chile.

Introduction: CHARGE syndrome is a genetic disorder of wide phenotypic variability, of autosomal dominant in heritance, caused by pathogenic variants in the CHD7 gene.

Objective: To describe the broad pheno typic spectrum of neonatal CHARGE syndrome, heterozygous for the CHD7 gene, and the usefulness of genome sequencing in diagnostic confirmation, considering differential diagnoses.

Clinical Case: 34-week preterm newborn, with severe prenatal history of polyhydramnios, increased nuchal trans- lucency, and hyperechogenic cardiac focus, with a TORCH study that ruled out congenital infection. Read More

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http://dx.doi.org/10.32641/rchped.v90i5.1080DOI Listing
October 2019

Severe congenital RYR1-associated myopathy complicated with atrial tachycardia and sinus node dysfunction: a case report.

Ital J Pediatr 2019 Dec 19;45(1):165. Epub 2019 Dec 19.

Division of Neurology, National Center for Child Health and Development, 2-10-1 Okura, Setagaya-ku, Tokyo, 157-8535, Japan.

Background: Cardiac arrhythmias are sometimes encountered in patients with hereditary myopathies and muscular dystrophies. Description of arrhythmias in myopathies and muscular dystrophies is very important, because arrhythmias have a strong impact on the outcomes for these patients and are potentially treatable.

Case Presentation: A girl with severe congenital RYR1-related myopathy exhibited atrial tachycardia and sinus node dysfunction during infancy. Read More

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http://dx.doi.org/10.1186/s13052-019-0756-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6921593PMC
December 2019

Socioemotional functioning with facial paralysis: Is there a congenital or acquired advantage?

Health Psychol 2020 Apr 19;39(4):345-354. Epub 2019 Dec 19.

School of Psychological Science.

Objective: Facial paralysis (FP) may impact emotional clarity, attachment, stigma, anxiety, and depression. The distinction between being born with it or acquiring it later may prompt developmental differences with consequences into adulthood, yet this has not been systematically studied. Two competing hypotheses were tested. Read More

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http://dx.doi.org/10.1037/hea0000838DOI Listing

[Congenital facial palsy].

Authors:
Y H Zhu W J Han

Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi 2019 Oct;54(10):787-791

Department of Otorhinolaryngology Head and Neck Surgery, Chinese PLA General Hospital, Beijing 100853, China.

Congenital facial palsy is unilateral or bilateral facial nerve palsy at birth due to genetic or different pathogenic factors. It can be divided into syndromic type and non-syndromic type according to its accompanying symptom. The pathogeny and symptom of each type are different, in part with genetic heterogeneity. Read More

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http://dx.doi.org/10.3760/cma.j.issn.1673-0860.2019.10.016DOI Listing
October 2019
3 Reads

Cardiofacial Syndrome: A Rare Case Report.

Mymensingh Med J 2019 Oct;28(4):945-948

Dr Mohammad Samir Azam Sunny, Medical Officer, Department of Cardiac Surgery, Bangabandhu Sheikh Mujib Medical University (BSMMU), Dhaka, Bangladesh; E-mail:

Cardiofacial syndrome is associated with facial abnormality with congenital heart disease. Here, we report a case of cardiofacial syndrome having anotia and facial nerve palsy on the right side in combination with infundibular pulmonary stenosis and patent ductus arteriosus which is a rare presentation of cardiofacial syndrome. A 6 years old girl presented to department of Cardiac surgery of Bangabandhu Sheikh Mujib Medical University, Dhaka, Bangladesh with the complaints of shortness of breath on exertion since 2 years of age. Read More

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October 2019
4 Reads

Significance of the Marginal Mandibular Branch in Relation to Facial Palsy Reconstruction: Assessment of Microanatomy and Macroanatomy Including Axonal Load in 96 Facial Halves.

Ann Plast Surg 2019 12;83(6):e43-e49

From the Department of Plastic, Reconstructive and Hand Surgery, University Hospital Regensburg, Regensburg.

Background: The marginal mandibular branch (MMB) of the facial nerve provides lower lip symmetry apparent during human smile or crying and is mandatory for vocal phonation. In treating facial palsy patients, so far, little attention is directed at the MMB in facial reanimation surgery. However, isolated paralysis may occur congenital, in Bell's palsy or iatrogenic during surgery, prone to its anatomical course. Read More

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http://dx.doi.org/10.1097/SAP.0000000000002038DOI Listing
December 2019
4 Reads

Mobius syndrome and obsessive compulsive disorder: a case report.

Psychiatr Danub 2019 Sep;31(Suppl 3):376-380

Université catholique de Louvain, Psychosomatics Unit, CHU UcL Namur Godinne Hospital, 5530 Yvoir, Belgium,

Background: Mobius syndrome is characterized by a bilateral congenital paralysis of the facial and abducens nerves which leaves the subject with an expressionless "mask-like" face.

Subjects And Methods: Based on a literature review and a case discussion of an adult patient with Mobius syndrome and obsessive-compulsive disorder, initially undiagnosed and confused with a psychotic disorder, we will discuss the influence of Mobius syndrome in psychiatric evaluations.

Results: The lack of facial expressiveness and non-verbal emotional interactions may influence psychiatric evaluations and result in misdiagnosis and the inappropriate prescribing of antipsychotics. Read More

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September 2019
11 Reads

Congenital unilateral hypoplasia of depressor anguli oris muscle in adult.

Authors:
Suk Joon Oh

Arch Craniofac Surg 2019 Aug 20;20(4):265-269. Epub 2019 Aug 20.

Department of Burn Reconstructive Surgery, Bestian Seoul Hospital, Seoul, Korea.

Congenital hypoplasia of the depressor anguli oris muscle is a rare cause of asymmetrical crying facies in newborns. The clinical manifestations range from mild to severe asymmetry and may persist up to adulthood. In the current case, the patient did not exhibit other congenital anomalies or paralysis of other branches of the facial nerve. Read More

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http://dx.doi.org/10.7181/acfs.2019.00297DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6715551PMC
August 2019
3 Reads

Infant Facial Paralysis Associated with Epstein-Barr Virus Infection.

Am J Case Rep 2019 Aug 17;20:1216-1219. Epub 2019 Aug 17.

Department of Microbiology, Unit of Virology, Central University Hospital of Asturias, Oviedo, Spain.

BACKGROUND Peripheral facial paralysis is a clinical presentation which, in most cases, is benign. It is relatively frequent, although less so in pediatric patients, where clinical diagnosis is more difficult. This clinical condition can be congenital, neurological, infectious, neoplastic, traumatic, or metabolic in origin. Read More

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http://dx.doi.org/10.12659/AJCR.917318DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6711264PMC
August 2019
2 Reads

[Transmastoidslotted labyrinthotomy approach cochlear implantation with customized electrode for patients with common cavity deformity].

Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi 2019 Jul;54(7):489-494

Department of Otorhinolaryngology Head and Neck Surgery, Beijing Tongren Hospital, Capital Medical University, Beijing 100730, China.

To discuss the benefit of using transmastoid slotted labyrinthotomy approach (TSLA) and customized electrode for common cavity deformity (CCD) patients, and to evaluate the audiological outcomes. A retrospective analysis of the intraoperative monitoring data and postoperative auditory outcomes of 10 CCD cases who received cochlear implantation in Beijing Tongren Hospital,Capital Medical University from April 2016 to December 2017, was conducted using TSLA and customized electrod as a test group.At the same time, 10 cases of age and gender matched children with severe or severe sensorineural hearing loss and normal inner ear structures were recorded as a control group. Read More

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http://dx.doi.org/10.3760/cma.j.issn.1673-0860.2019.07.002DOI Listing
July 2019
5 Reads

Children with facial paralysis due to Moebius syndrome exhibit reduced autonomic modulation during emotion processing.

J Neurodev Disord 2019 07 10;11(1):12. Epub 2019 Jul 10.

Unit of Neuroscience, Department of Medicine and Surgery, University of Parma, Via Volturno, 39, 43125, Parma, Italy.

Background: Facial mimicry is crucial in the recognition of others' emotional state. Thus, the observation of others' facial expressions activates the same neural representation of that affective state in the observer, along with related autonomic and somatic responses. What happens, therefore, when someone cannot mimic others' facial expressions?

Methods: We investigated whether psychophysiological emotional responses to others' facial expressions were impaired in 13 children (9 years) with Moebius syndrome (MBS), an extremely rare neurological disorder (1/250,000 live births) characterized by congenital facial paralysis. Read More

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http://dx.doi.org/10.1186/s11689-019-9272-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6617955PMC
July 2019
8 Reads

Management of Neonatal Facial Paralysis due to Cerebellopontine Angle Arachnoid Cyst: A Case Report.

Pediatr Neurosurg 2019 2;54(4):253-257. Epub 2019 Jul 2.

Division of Pediatric Neurosurgery, Gazi University Faculty of Medicine, Ankara, Turkey.

Arachnoid cysts are benign, cerebrospinal fluid-filled collections that can be located in the brain or spinal cord. Arachnoid cysts form approximately 1% of all intracranial lesions. They are accepted as arachnoid developmental anomaly and arise from membrane splitting or duplication. Read More

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http://dx.doi.org/10.1159/000500762DOI Listing
January 2020
6 Reads

[Asymmetric crying facies and vocal cord paralysis accompanied by congenital heart disease in an infant].

Zhongguo Dang Dai Er Ke Za Zhi 2019 Jun;21(6):585-588

Department of Pediatrics, Peking University Third Hospital, Beijing 100191, China.

A female infant was admitted to the hospital due to perioral cyanosis two hours after birth. The infant was born at the gestational age of 35 weeks by cesarean section with a birth weight of 2 400 g. Physical examination revealed wry mouth to the left side while crying, small auricles, and high palatal arch; fibrolaryngoscopy suggested bilateral vocal cord paralysis; echocardiography suggested ventricular septal defect; single nucleotide polymorphism testing showed 22q11. Read More

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June 2019
11 Reads

Congenital unilateral facial palsy revealing a facial nerve agenesis: a case report and review of the literature.

BJR Case Rep 2019 Feb 12;5(1):20180029. Epub 2018 Jul 12.

Imaging Department, Ibn Sina Hospital, Rabat, Morocco.

Facial nerve aplasia is an extremely rare condition that is usually syndromic, namely, in Moebius syndrome. The occurrence of isolated agenesis of facial nerve is even rarer, with only few cases reported in the literature. We report a case of congenital facial paralysis due to facial nerve aplasia diagnosed on MRI, while no noticeable abnormality was detected on the temporal bone CT. Read More

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http://dx.doi.org/10.1259/bjrcr.20180029DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6519490PMC
February 2019
11 Reads

Outcomes of cochlear implantation in children with inner ear malformations.

Eur Arch Otorhinolaryngol 2019 Sep 20;276(9):2397-2403. Epub 2019 May 20.

Department of Otorhinolaryngology-Head and Neck Surgery, Pendik Training and Research Hospital, Marmara University Medical Faculty, Mimar Sinan Caddesi No. 41, Fevzi Cakmak Mahallesi, Ust Kaynarca-Pendik, 34899, Istanbul, Turkey.

Purpose: To evaluate the surgical experience and auditory functions and progress of speech development of cochlear implantation in malformed ears.

Materials And Methods: Between November 1995 and July 2017, thirty-seven patients (26 females and 11 males; mean age: 138.275 ± 96. Read More

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http://dx.doi.org/10.1007/s00405-019-05475-9DOI Listing
September 2019
3 Reads

Autonomic Responses to Emotional Stimuli in Children Affected by Facial Palsy: The Case of Moebius Syndrome.

Neural Plast 2019 8;2019:7253768. Epub 2019 Apr 8.

Unit of Neuroscience, Department of Medicine and Surgery, University of Parma, Parma, Italy.

According to embodied simulation theories, others' emotions are recognized by the unconscious mimicking of observed facial expressions, which requires the implicit activation of the motor programs that produce a specific expression. Motor responses performed during the expression of a given emotion are hypothesized to be directly linked to autonomic responses associated with that emotional behavior. We tested this hypothesis in 9 children ( = 5. Read More

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https://www.hindawi.com/journals/np/2019/7253768/
Publisher Site
http://dx.doi.org/10.1155/2019/7253768DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6476053PMC
December 2019
14 Reads

Unilateral facial nerve hypoplasia without evident facial palsy.

BMJ Case Rep 2019 May 13;12(5). Epub 2019 May 13.

Centro Hospitalar e Universitario de Coimbra EPE, Coimbra, Portugal.

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http://dx.doi.org/10.1136/bcr-2018-228036DOI Listing
May 2019
2 Reads

An International Collaborative Standardizing Patient-Centered Outcome Measures in Pediatric Facial Palsy.

JAMA Facial Plast Surg 2019 Sep;21(5):351-358

University College London, London, United Kingdom.

Importance: Standardization of outcome measurement using a patient-centered approach in pediatric facial palsy may help aid the advancement of clinical care in this population.

Objective: To develop a standardized outcome measurement set for pediatric patients with facial palsy through an international multidisciplinary group of health care professionals, researchers, and patients and patient representatives.

Design, Setting, And Participants: A working group of health care experts and patient representatives (n = 21), along with external reviewers, participated in the study. Read More

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http://dx.doi.org/10.1001/jamafacial.2019.0224DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6512270PMC
September 2019
7 Reads

Multigenic truncation of the semaphorin-plexin pathway by a germline chromothriptic rearrangement associated with Moebius syndrome.

Hum Mutat 2019 08 14;40(8):1057-1062. Epub 2019 May 14.

Wilhelm Johannsen Center for Functional Genome Research, Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark.

Moebius syndrome (MBS) is a congenital disorder caused by paralysis of the facial and abducens nerves. Although a number of candidate genes have been suspected, so far only mutations in PLXND1 and REV3L are confirmed to cause MBS. Here, we fine mapped the breakpoints of a complex chromosomal rearrangement (CCR) 46,XY,t(7;8;11;13) in a patient with MBS, which revealed 41 clustered breakpoints with typical hallmarks of chromothripsis. Read More

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http://dx.doi.org/10.1002/humu.23775DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6688968PMC
August 2019
5 Reads

Characterization of Hand Anomalies Associated With Möbius Syndrome.

J Hand Surg Am 2019 Jul 25;44(7):548-555. Epub 2019 Apr 25.

Department of Orthopaedic Surgery. Electronic address:

Purpose: To investigate the distinguishing morphological characteristics of the upper extremities in children with Möbius syndrome.

Methods: Twenty-seven involved extremities in 14 patients with a diagnosis of Möbius syndrome were identified at 2 institutions. Medical records, radiographs, and clinical photographs were evaluated. Read More

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http://dx.doi.org/10.1016/j.jhsa.2019.02.020DOI Listing
July 2019
14 Reads

Bilateral Facial Nerve Palsy in a Child: When the Smile Returns.

J Pediatr Neurosci 2018 Oct-Dec;13(4):508-511

UOC Pediatria, Maggiore Hospital, AUSL di Bologna, Bologna, Italy.

Bilateral facial nerve palsy (FNP) is an extremely rare clinical condition. Different from unilateral FNP, because of idiopathic or Bell's palsy in the majority of cases, bilateral FNP is most often correlated to an underlying medical condition, which can be congenital, neurological, infectious, neoplastic, traumatic, or metabolic. We describe the case of an 8-year-old girl with bilateral facial paralysis because of Epstein-Barr virus infection with late diagnosis and therapy. Read More

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http://dx.doi.org/10.4103/JPN.JPN_58_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6413604PMC
April 2019
7 Reads

Segmental Gracilis Muscle Transplantation for Midfacial Animation in Möbius Syndrome: A 29-Year Experience.

Plast Reconstr Surg 2019 03;143(3):581e-591e

Toronto and Ottawa, Ontario, Canada From the Division of Plastic and Reconstructive Surgery, The Hospital for Sick Children; the Division of Plastic and Reconstructive Surgery, Department of Surgery, University of Toronto; and the Faculty of Medicine, University of Ottawa.

Background: Möbius syndrome is a complex congenital disorder of unclear cause involving multiple cranial nerves and typically presenting with bilateral facial and abducens nerves palsies. At The Hospital for Sick Children, Toronto, Ontario, Canada, microneurovascular transfer of free-muscle transplant is the procedure of choice for midfacial animation. The primary aim of this study was to investigate surgical outcomes of the procedure in terms of complications, secondary revisions, and smile excursion gains. Read More

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http://dx.doi.org/10.1097/PRS.0000000000005368DOI Listing
March 2019
16 Reads

A recurrent de novo mutation in ATP1A3 gene in a Mexican patient with alternating hemiplegia of childhood detected by massively parallel sequencing.

Bol Med Hosp Infant Mex 2019 ;76(1):49-53

School of Medicine, Medical Sciences and Nutrition, University of Aberdeen, Aberdeen, United Kingdom.

Background: Pediatric movement disorders represent a diagnostic challenge for pediatricians and pediatric neurologists due to their high clinical heterogeneity and shared common features. Therefore, specific diagnoses require different approaches including metabolic work-up and specific tests for frequent genetic conditions. Alternating hemiplegia of childhood (AHC) is an ultra-rare pediatric movement disorder, characterized by paroxysmal alternating hemiplegia, dystonia, and seizure-like episodes that can be misleading during the evaluation of a child with a movement disorder. Read More

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http://www.bmhim.com/files/bmhi_2019_1_49-53.pdf
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http://dx.doi.org/10.24875/BMHIM.18000099DOI Listing
January 2020
46 Reads

Congenital facial palsy and emotion processing: The case of Moebius syndrome.

Genes Brain Behav 2019 01;18(1):e12548

Department of Medicine and Surgery, University of Parma, Parma, Italy.

According to the Darwinian perspective, facial expressions of emotions evolved to quickly communicate emotional states and would serve adaptive functions that promote social interactions. Embodied cognition theories suggest that we understand others' emotions by reproducing the perceived expression in our own facial musculature (facial mimicry) and the mere observation of a facial expression can evoke the corresponding emotion in the perceivers. Consequently, the inability to form facial expressions would affect the experience of emotional understanding. Read More

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http://doi.wiley.com/10.1111/gbb.12548
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http://dx.doi.org/10.1111/gbb.12548DOI Listing
January 2019
10 Reads

Sensory Restoration of the Facial Region.

Ann Plast Surg 2019 06;82(6):700-707

From the Department of Plastic Surgery, University of Tennessee Health Science Center, Memphis, TN.

Normal sensitivity of the face is very important for preserving its integrity and function as an efferent source of information for the brain. The trigeminal nerve, which is the largest cranial nerve, conducts most of facial sensory function through its 3 branches: the ophthalmic nerve (V1), the maxillary nerve (V2), and the mandibular nerve (V3). The trigeminal nerve may be damaged by a variety of etiologies including inflammatory disorders, brain tumor resection, trauma, iatrogenic injury, or congenital anomalies. Read More

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http://dx.doi.org/10.1097/SAP.0000000000001635DOI Listing
June 2019
31 Reads

Masseter-to-Facial Nerve Transfer for Reanimation of a Patient With Long-Term Facial Paralysis.

J Craniofac Surg 2019 Jan;30(1):e43-e45

Department of Plastic and Reconstructive Surgery, University and Polytechnic Hospital La Fe, Valencia, Spain.

Facial paralysis is a condition caused by a wide variety of etiologies, including neurologic, congenital, infectious, neoplastic, systemic, and iatrogenic causes. A patient suffering from long-term facial paralysis, with minimal innervation detected through electroneurography, who was successfully reanimated by performing a masseter-to-facial nerve transfer, was presented in this study. Facial paralysis had been caused after resection of an acquired middle ear cholesteatoma more than 5 years before. Read More

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http://dx.doi.org/10.1097/SCS.0000000000004957DOI Listing
January 2019
10 Reads

Congenital hypoplasia of depressor anguli oris muscle (CHDAOM): an uncommon cause of asymmetric crying facies in childhood.

BMJ Case Rep 2018 Oct 23;2018. Epub 2018 Oct 23.

Department of Pediatrics, Advanced Pediatric Centre, Post Graduate Institute of Medical Education and Research, Chandigarh, India.

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http://dx.doi.org/10.1136/bcr-2018-227240DOI Listing
October 2018
9 Reads

Neuromodulator for the Treatment of Congenital Unilateral Lower Lip Palsy.

Ann Otol Rhinol Laryngol 2019 Jan 22;128(1):62-65. Epub 2018 Oct 22.

1 Division of Facial Plastic and Reconstructive Surgery, Department of Otolaryngology-Head & Neck Surgery, Oregon Health and Science University, Portland, OR, USA.

Introduction:: Congenital unilateral lower lip palsy is an infrequently encountered condition that manifests as lower lip asymmetry during smiling, laughing, and crying. Treatment options are not well characterized.

Methods:: The authors present the case of a 51-year-old woman who was referred for surgical intervention for facial paralysis. Read More

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http://journals.sagepub.com/doi/10.1177/0003489418808304
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http://dx.doi.org/10.1177/0003489418808304DOI Listing
January 2019
18 Reads

Variants affecting diverse domains of MEPE are associated with two distinct bone disorders, a craniofacial bone defect and otosclerosis.

Genet Med 2019 05 5;21(5):1199-1208. Epub 2018 Oct 5.

Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.

Purpose: To characterize new molecular factors implicated in a hereditary congenital facial paresis (HCFP) family and otosclerosis.

Methods: We performed exome sequencing in a four-generation family presenting nonprogressive HCFP and mixed hearing loss (HL). MEPE was analyzed using either Sanger sequencing or molecular inversion probes combined with massive parallel sequencing in 89 otosclerosis families, 1604 unrelated affected subjects, and 1538 unscreened controls. Read More

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http://dx.doi.org/10.1038/s41436-018-0300-5DOI Listing
May 2019
56 Reads

Congenital laryngeal paralysis in Alaskan Huskies: 25 cases (2009-2014).

J Am Vet Med Assoc 2018 Oct;253(8):1057-1065

OBJECTIVE To characterize congenital laryngeal paralysis (CLP) in Alaskan Huskies. DESIGN Prospective case series. ANIMALS 25 Alaskan Huskies with CLP. Read More

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https://avmajournals.avma.org/doi/10.2460/javma.253.8.1057
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http://dx.doi.org/10.2460/javma.253.8.1057DOI Listing
October 2018
15 Reads

Facial Palsy-Specific Quality of Life in 920 Patients: Correlation With Clinician-Graded Severity and Predicting Factors.

Laryngoscope 2019 01 12;129(1):100-104. Epub 2018 Sep 12.

Facial Nerve Center, Department of Otolaryngology, Massachusetts Eye and Ear Infirmary and Harvard Medical School, Boston, Massachusetts, U.S.A.

Objectives: To investigate the correlation between facial palsy severity and quality of life in a broad cohort of facial palsy patients and to elucidate factors that influence this relationship.

Study Design: Retrospective study.

Methods: Records of patients presenting with a clinician-graded facial function (eFACE) and facial palsy-specific quality-of-life patient-reported outcome measure (FaCE) scale from the same moment were reviewed. Read More

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http://doi.wiley.com/10.1002/lary.27481
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http://dx.doi.org/10.1002/lary.27481DOI Listing
January 2019
10 Reads

Isolated Congenital Absence of Cranial Nerves: Report of Two Cases.

Neuropediatrics 2018 12 10;49(6):405-407. Epub 2018 Sep 10.

Department of Radiodiagnosis and Pediatric Neurology, PGIMER, Chandigarh, Punjab, India.

Isolated cranial nerve absence is a rare condition that can be diagnosed using high-resolution cranial nerve magnetic resonance (MR) imaging. Thorough clinical examination with proper knowledge of the course of cranial nerves may help diagnose this rare condition. We describe two cases, one each of, isolated congenital absence of the third and seventh cranial nerve with their clinical presentation. Read More

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http://www.thieme-connect.de/DOI/DOI?10.1055/s-0038-1669923
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http://dx.doi.org/10.1055/s-0038-1669923DOI Listing
December 2018
1 Read
1.104 Impact Factor

Management of Bilateral Facial Palsy.

Otolaryngol Clin North Am 2018 Dec 27;51(6):1213-1226. Epub 2018 Aug 27.

Division of Plastic and Reconstructive Surgery, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario M5G 1X8, Canada. Electronic address:

Bilateral facial paralysis is a rare entity that occurs in both pediatric and adult patients and can have congenital or acquired causes. When paralysis does not resolve with conservative or medical management, surgical intervention may be indicated. This article presents the authors' preferred technique for facial reanimation in patients with bilateral congenital facial paralysis. Read More

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http://dx.doi.org/10.1016/j.otc.2018.07.014DOI Listing
December 2018
40 Reads

Congenital asymmetric crying facies syndrome: A case report.

Medicine (Baltimore) 2018 Aug;97(31):e11403

Introduction: Congenital asymmetric crying facies (ACF) in newborns is a rare condition usually caused by unilateral agenesis or hypoplasia of the depressor anguli oris muscle on one side of the mouth (symmetric face at rest and asymmetric face while crying), which is often accompanied with other malformations.

Case Report: We present a case of a female newborn with nonconsanguineous ethnic Han Chinese parents who presented with 37 minutes of breathlessness and asymmetrical face when crying. A thorough physical examination had been conducted. Read More

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http://dx.doi.org/10.1097/MD.0000000000011403DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6081082PMC
August 2018
43 Reads

Magnetic resonance imaging of developmental facial paresis: a spectrum of complex anomalies.

Neuroradiology 2018 Oct 3;60(10):1053-1061. Epub 2018 Aug 3.

Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.

Purpose: Despite its clinical implications, the MRI features of developmental facial paresis (DFP) were described in a few case reports. This study aims to describe MRI features of DFP in relation to the embryological development with a proposed radiological new grading system.

Methods: The clinical records and MRI of the brain and internal auditory canal of 11 children with DFP were retrospectively reviewed. Read More

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http://dx.doi.org/10.1007/s00234-018-2063-8DOI Listing
October 2018
38 Reads

Congenital Cholesteatoma: The Silent Pathology.

ORL J Otorhinolaryngol Relat Spec 2018 24;80(2):108-116. Epub 2018 Jul 24.

Background: Congenital cholesteatomas (CC) arise from epithelial remnants around the petrous bone. They enlarge gradually causing progressive destruction and functional damage to the ear and surrounding structures. Because of their insidious course, most patients are misdiagnosed and present late with complications. Read More

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http://dx.doi.org/10.1159/000490255DOI Listing
January 2019
8 Reads

Speech and Communicative Participation in Patients With Facial Paralysis.

JAMA Otolaryngol Head Neck Surg 2018 08;144(8):686-693

Division of Facial Plastic and Reconstructive Surgery, Department of Otolaryngology-Head and Neck Surgery, Stanford University Medical Center, Stanford, California.

Importance: Problems with speech in patients with facial paralysis are frequently noted by both clinicians and the patients themselves, but limited research exists describing how facial paralysis affects verbal communication.

Objective: To assess the influence of facial paralysis on communicative participation.

Design, Setting, And Participants: A nationwide online survey of 160 adults with unilateral facial paralysis was conducted from March 1 to June 1, 2017. Read More

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http://dx.doi.org/10.1001/jamaoto.2018.0649DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6142995PMC
August 2018
51 Reads

Facial Paralysis in Patients With Hemifacial Microsomia: Frequency, Distribution, and Association With Other OMENS Abnormalities.

J Craniofac Surg 2018 Sep;29(6):1633-1637

Department of Ear Reconstruction, Plastic Surgery Hospital, Chinese Academy of Medical Sciences, Peking Union Medical, Beijing, China.

Although facial paralysis is a fundamental feature of hemifacial microsomia, the frequency and distribution of nerve abnormalities in patients with hemifacial microsomia remain unclear. In this study, the authors classified 1125 cases with microtia (including 339 patients with hemifacial microsomia and 786 with isolated microtia) according to Orbital Distortion Mandibular Hypoplasia Ear Anomaly Nerve Involvement Soft Tissue Dependency (OMENS) scheme. Then, the authors performed an independent analysis to describe the distribution feature of nerve abnormalities and reveal the possible relationships between facial paralysis and the other 4 fundamental features in the OMENS system. Read More

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http://dx.doi.org/10.1097/SCS.0000000000004618DOI Listing
September 2018
17 Reads

Congenital and iatrogenic laryngeal and vocal abnormalities in patients with 22q11.2 deletion.

Int J Pediatr Otorhinolaryngol 2018 Jun 13;109:17-20. Epub 2018 Mar 13.

ENT and Facial Plastic Surgery, Children's of Minnesota, Minneapolis, MN, USA; University of Minnesota, Department of Otolaryngology, Minneapolis, MN, USA. Electronic address:

Background: Voice abnormalities often go unrecognized in patients with 22q11.2 deletion because speech abnormalities become the focus of evaluation.

Objective: To analyze voice and vocal fold abnormalities in patients with 22q11. Read More

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http://dx.doi.org/10.1016/j.ijporl.2018.03.006DOI Listing
June 2018
16 Reads

Familial lower lip facial paralysis with asymmetric smile: Selective neurectomy of the cervical branch.

Int J Pediatr Otorhinolaryngol 2018 06 12;109:144-148. Epub 2018 Apr 12.

Facial Nerve Center, Lenox Hill and Manhattan Eye, Ear and Throat Hospitals, 210 East 64th Street, 7th Floor, New York, NY 10065, United States. Electronic address:

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http://dx.doi.org/10.1016/j.ijporl.2018.04.006DOI Listing
June 2018
6 Reads

UNILATERAL FRONTALIS MUSCLE PARALYSIS: MANAGEMENT WITH BOTULINUM TOXIN A (CASE REPORTS).

Authors:
A Goldman U Wollina

Georgian Med News 2018 Feb(Issue):73-77

Clinica Goldman, Porto Alegre, Rio Grande do Sul, Brazil; Department of Dermatology and Allergology, Municipal Hospital Dresden, Academic Teaching Hospital of the Technical University of Dresden, Germany.

Unilateral frontalis muscle palsy is a debilitating disease with a heterogeneous etiology. Congenital or acquired unilateral paralysis of the frontalis muscle causes ipsilateral brow ptosis and contralateral hypermobility of the non-paralytic frontalis muscle, resulting in a bizarre asymmetry and emotional embarrassment. We present five patients with unilateral frontal muscle paralysis, two males and three females, aged between 32 and 68, treated with botulinum toxin A injection to the contralateral (non-affected) side. Read More

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February 2018
5 Reads

Orthodontics and Moebius syndrome: an observational study.

Minerva Stomatol 2018 Aug 8;67(4):165-171. Epub 2018 Mar 8.

Department of Medicine, University Center of Dentistry, University of Parma, Parma, Italy.

Background: Moebius syndrome is a rare condition characterized by bilateral facial and abducens nerve paralysis. The aim of this study is to evaluate the main orthodontic features and the frequency of associated clinical characteristics in patients with Moebius syndrome (MS).

Methods: According to Terzis classifications, 58 patients with MS aged 8 months to 46 years old underwent orthodontics and clinical examination. Read More

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http://dx.doi.org/10.23736/S0026-4970.18.04095-5DOI Listing
August 2018
13 Reads

Novel Homozygous Missense Mutation in Leads to Severe Congenital Ptosis, Ophthalmoplegia, and Scoliosis in the Absence of Myopathy.

Mol Syndromol 2017 Dec 15;9(1):25-29. Epub 2017 Nov 15.

Department of Genetics, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.

Ryanodine receptor 1 () is an intracellular calcium receptor primarily expressed in skeletal muscle with a role in excitation contraction. Both dominant and recessive mutations in the gene cause a range of -related myopathies and/or susceptibility to malignant hyperthermia (MH). Recently, an atypical manifestation of ptosis, variably presenting with ophthalmoplegia, facial paralysis, and scoliosis but without significant muscle weakness, has been reported in 9 cases from 4 families with bialleic variants in . Read More

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http://dx.doi.org/10.1159/000481897DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5803739PMC
December 2017
23 Reads

Mature and immature pediatric head and neck teratomas: A 15-year review at a large tertiary center.

Int J Pediatr Otorhinolaryngol 2018 Feb 2;105:43-47. Epub 2017 Dec 2.

Baylor College of Medicine, Department of Otolaryngology - Head and Neck Surgery, One Baylor Plaza Suite NA-102, Houston, TX, USA; Texas Children's Hospital, Department of Pediatric Otolaryngology, 6701 Fannin St, Suite 540, Houston, TX 77030, USA. Electronic address:

Introduction: Pediatric head and neck teratomas account for less than 4% of congenital teratomas. The distinct presentations and outcomes of mature and immature head and neck teratomas have not been well established.

Objectives: To review the management and outcomes of pediatric head and neck teratomas. Read More

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http://dx.doi.org/10.1016/j.ijporl.2017.11.031DOI Listing
February 2018
13 Reads