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Zhonghua Yan Ke Za Zhi 2022 Jun;58(6):441-447

Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Institute of Ophthalmology, Beijing Key Laboratory of Ophthalmology & Visual Sciences, Beijing 100730, China.

To analyze the clinical characteristics of patients with Möbius syndrome (MBS) and to explore likely pathogenic genes. Cross-sectional study. The study enrolled 18 sporadic MBS patients who visited the Eye Center of Beijing Tongren Hospital Affiliated to Capital Medical University from July 2018 to December 2021. Read More

Clin Med Insights Case Rep 2022 28;15:11795476221088487. Epub 2022 Mar 28.

Department of Pediatrics and Pediatric Hepatology, Faculty of Medicine, Cairo University, Egypt.

Introduction: Facial asymmetry during crying in neonates is an important entity which might be due to an underlying true paralysis of the facial nerve or due to the benign overlooked diagnosis of congenital absence of the depressor angularis oris muscle (DAOM).

Case Report: We report a full-term newborn delivered by normal spontaneous vertex delivery with uneventful pregnancy and Apgar score of 9 and 10 at 1 and 5 minutes respectively. His parents are first-degree cousins with 4 living normal siblings. Read More

Indian J Ophthalmol 2022 Apr;70(4):1339-1342

Consultant Ophthalmologist, Department of Ophthalmology, DHH, Sambalpur, Odisha, India.

Purpose: To determine the efficacy and safety of botulinum toxin injection into the lacrimal gland as a symptomatic treatment of crocodile tear syndrome (CTS).

Methods: Our study included six patients of unilateral gustatory hyper lacrimation following either an episode of facial paralysis or post trauma or any related surgery that posed a risk of damaging the facial nerve. Detailed history regarding previous trauma, duration of facial paralysis, previous significant surgery, and duration of steroid use following facial paralysis was noted. Read More

Am J Phys Med Rehabil 2022 05 21;101(5):e76-e79. Epub 2022 Jan 21.

From the Department of Physical and Rehabilitation Medicine, Centro Hospitalar de Entre o Douro e Vouga, Santa Maria da Feira, Portugal (ST, JM, JB, JC, JL, CAB); and Faculty of Dental Medicine, University of Porto, Porto, Portugal (CAB).

Abstract: Congenital facial palsy is a rare condition, usually related to a traumatic event during birth or as a feature of a syndrome. In this report, two cases of infants with peripheral facial palsy since birth are described, in which magnetic resonance imaging demonstrated unilateral aplasia of the facial nerve. There are only a few cases with similar findings described in the literature. Read More

Microsurgery 2022 Mar 11;42(3):231-238. Epub 2022 Jan 11.

Maxillo-Facial Surgery Unit, Head and Neck Department, University Hospital of Parma, Parma, Italy.

Background: The choice of neurotization source for gracilis neuromuscular transplant is a key point in the treatment of unilateral long-standing paralysis. To combine the advantages of different donor nerves and overcome their disadvantages, mixed neurotization sources have been described with encouraging results. The authors present a preliminary report of a novel technique, the "supercharged" cross-graft, a two-step technique consisting of a double powered cross nerve graft provided by a zygomatic branch of the healthy facial nerve and the masseter nerve of the healthy side. Read More

SAGE Open Med Case Rep 2021 23;9:2050313X211067913. Epub 2021 Dec 23.

Department of Otolaryngology-Head and Neck Surgery, University of Tennessee Health Science Center, Memphis, TN, USA.

Neurenteric cysts are rare, developmental malformations mainly found in the spinal canal. The authors report on a 29-year-old woman who presented with congenital left-sided hearing loss and a 9 days history of left ear pain and facial weakness (House-Brackmann IV). Radiological examination revealed a complex 7 mm cystic structure involving the petrous and mastoid portions of the left temporal bone. Read More

Rev Fac Cien Med Univ Nac Cordoba 2021 12 28;78(4):405-407. Epub 2021 Dec 28.

Hospital General Universitario Gregorio Marañón. Servicio de Medicina Interna. Madrid, España .

Introduction: Since the SARS-CoV-2 pandemics began, multiple cases of Guillain-Barre syndrome secondary to COVID-19 have been described. Its typical presentation consists of the triad of paresthesia, ascending muscle weakness and areflexia, although there are several regional variants such as facial diplegia.

Case Presentation: Two weeks after a contact with a confirmed case of COVID-19, a 35-year-old woman presents with viral myopericarditis. Read More

Congenit Anom (Kyoto) 2022 Mar 30;62(2):82-83. Epub 2021 Dec 30.

Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.

Arch Phys Med Rehabil 2021 Dec 10. Epub 2021 Dec 10.

Physical and Rehabilitation Medicine Unit, Istituti Clinici Scientifici Maugeri IRCCS, Tradate, Italy.

Objective: To investigate the psychometric properties of the validated Italian version of the Facial Disability Index (FDI), a patient-reported outcome measure widely used to assess individuals with peripheral facial palsy.

Design: Methodological research on cross-sectional data from a convenience sample.

Setting: Outpatient university rehabilitation clinic. Read More

Prz Menopauzalny 2021 Sep 24;20(3):122-126. Epub 2021 Sep 24.

Department of Otolaryngology, Polish Mother's Memorial Hospital-Research Institute, Lodz, Poland.

Introduction: One per cent of live births are affected by cytomegalovirus infection, but 90% of neonates with perinatal infection do not show symptoms of disease. Symptomatic cytomegalovirus (CMV) is present in 5-10% of children. Typical clinical signs of congenital cytomegalovirus infection are microcephalia, mental retardation, progressive major amblyacousia, and neuromuscular infection. Read More

Hum Genet 2021 Dec 15;140(12):1709-1731. Epub 2021 Oct 15.

Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.

Microtubules are formed from heterodimers of alpha- and beta-tubulin, each of which has multiple isoforms encoded by separate genes. Pathogenic missense variants in multiple different tubulin isoforms cause brain malformations. Missense mutations in TUBB3, which encodes the neuron-specific beta-tubulin isotype, can cause congenital fibrosis of the extraocular muscles type 3 (CFEOM3) and/or malformations of cortical development, with distinct genotype-phenotype correlations. Read More

World J Clin Cases 2021 Aug;9(24):7269-7278

Department of Oral Medicine, The Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou 310009, Zhejiang Province, China.

Background: Moebius syndrome (MBS) is a nonprogressive and rare congenital neuromuscular disorder involving the facial nerve and abductor nerve; it mainly manifests as facial paralysis and eye strabismus paralytic symptoms. Tissues in the oral cavity are also compromised, characterized by microstomia, micrognathia, tongue malformation, cleft lip, high arched palate or cleft palate, bifid uvula, and dental malocclusion. Therefore, dentistry plays a fundamental and crucial role in caring for these individuals. Read More

Optom Vis Sci 2021 11;98(11):1248-1254

Department of Oral and Maxillofacial Surgery, Isfahan (Khorasgan) Branch, Islamic Azad University, Isfahan, Iran.

Significance: This study was conducted to evaluate facial asymmetry in unilateral congenital superior oblique muscle palsy (SOP). The results showed that all facial asymmetry parameters had a higher frequency in SOP patients compared with orthotropic individuals.

Purpose: This study aimed to evaluate the characteristics of facial asymmetry in unilateral congenital SOP and compare with orthotropic individuals. Read More

J Plast Reconstr Aesthet Surg 2022 Jan 12;75(1):265-270. Epub 2021 Jun 12.

Division of Plastic and Reconstructive Surgery, The Hospital for Sick Children, Division of Plastic and Reconstructive Surgery, University of Toronto, 555 University Avenue, Toronto ON, Canada M5G 1 × 8.

Facial paralysis may result in significant functional, esthetic, and psychological morbidity. Mobius syndrome is a form of bilateral congenital facial paralysis that is particularly difficult to treat owing to the lack of readily available donor nerves, particularly in the upper face. In this study, we evaluate the feasibility of using the deep temporal nerves as donors for the innervation of free muscle grafts in the periorbital region. Read More

Lin Chung Er Bi Yan Hou Tou Jing Wai Ke Za Zhi 2021 Jul;35(7):602-607

Department of Otorhinolaryngology，Peking Union Medical College Hospital，Chinese Academy of Medical Sciences and Peking Union Medical College，Beijing，100730，China.

According to whether auricle reconstruction has been performed before the implantation of Bonebridge, the different surgical plan of combination of ear reconstruction and hearing rehabilitation with Bonebridge were respectively applied for the individuals with congenital outer and middle ear malformation. The study aim to explore the feasibility of personalized comprehensive treatment of congenital outer and middle ear malformation. We developed individualized surgical plans of Bonebridge implantation and auricular reconstruction for 35 patients with bilateral external and middle ear malformation. Read More

J Paediatr Child Health 2021 06 13;57(6):786-790. Epub 2021 May 13.

The Welsh Centre of Burns and Plastic Surgery, Morriston Hospital, Swansea, United Kingdom.

The aim of this article is to provide an overview on paediatric facial paralysis, looking into aetiology, epidemiology, assessment and investigation and subsequent treatment options available. Facial paralysis describes the inability to activate the muscles of fascial expression. Overall, it affects 2. Read More

Int J Surg Case Rep 2021 May 28;82:105916. Epub 2021 Apr 28.

Medical Research Center, Kateb University, Kabul, Afghanistan. Electronic address:

Introduction: Cholesteatoma is a benign tumoral lesion of squamous epithelial cells in middle ear that can exist as congenital or acquired forms.

Presentation Of Cases: A 35-year-old housewife presented to ENT clinic of a private hospital in Kabul, Afghanistan, with a complete facial nerve paralysis in the right side. In her antecedents, there is a tympanomastoidectomy due to chronic middle ear infection. Read More

BMJ Case Rep 2021 May 4;14(5). Epub 2021 May 4.

Opthalmology, Rajendra Prasad Center for Ophthalmic Sciences, Delhi, Delhi, India.

J Int Adv Otol 2021 Mar;17(2):186-189

Departmenf of Otolaryngology, Erciyes University School of Medicine, Kayseri, Turkey.

Aural atresia is a congenital disease that is characterized by an embryologic developmental defect of the external auditory canal (EAC). There is an erythematous, bulging tympanic membrane by otoscope in physical examination of acute otitis media (AOM). Children with aural atresia experience AOM as children have normal anatomy. Read More

J Otolaryngol Head Neck Surg 2021 Apr 15;50(1):25. Epub 2021 Apr 15.

Department of Otolaryngology-Head and Neck Surgery, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo, 160-8582, Japan.

Background: Salivary gland choristoma (SGCh) is a rare benign tumor reported in several unusual sites, such as the gastrointestinal tract, the optic nerve, and the internal auditory canal, but never reported in the inner ear.

Case Presentation: An 8-year-old girl with a history of left profound congenital hearing loss presented to us with ipsilateral progressive severe facial nerve palsy (House-Brackmann Grade VI). The left tympanic membrane was swollen with a pulsatile tumor. Read More

Orphanet J Rare Dis 2021 04 7;16(1):158. Epub 2021 Apr 7.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

There is a broad differential for patients presenting with congenital facial weakness, and initial misdiagnosis unfortunately is common for this phenotypic presentation. Here we present a framework to guide evaluation of patients with congenital facial weakness disorders to enable accurate diagnosis. The core categories of causes of congenital facial weakness include: neurogenic, neuromuscular junction, myopathic, and other. Read More

Acta Otolaryngol 2021 Jun 6;141(6):572-578. Epub 2021 Apr 6.

Department of Otolaryngology-Head and Neck Surgery, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine; Institute of Otology, Shanghai Jiao Tong University School of Medicine, Shanghai, China.

Background: Congenital microtia-atresia affects patients in two specific ways: severe conductive hearing loss and difficulty in integrating into social environments due to auricle malformation.

Aims/objectives: To investigate the safety and efficacy of single-stage auricular reconstruction and hearing rehabilitation in children with microtia and external auditory canal atresia.

Material And Methods: From January 2016 to December 2019, we included 32 patients with microtia and external canal atresia who received auricle reconstruction with high-density polyethylene (Medpor) framework and three different hearing rehabilitation approaches at the Ninth People's Hospital affiliated to Shanghai Jiao Tong University School of Medicine. Read More

Cureus 2021 Jan 25;13(1):e12905. Epub 2021 Jan 25.

Otolaryngology - Head and Neck Surgery, Universiti Kebangsaan Malaysia Medical Centre, Kuala Lumpur, MYS.

Acute mastoiditis in a newborn complicated by the presence of facial nerve palsy is an alarming finding requiring rapid assessment and further investigation. Such an early presentation should point the clinician towards an underlying systemic pathology or congenital anatomical abnormality. Facial nerve involvement indicates severe infection and possible dehiscence of the facial canal. Read More

Hand (N Y) 2021 Mar 1:1558944721994265. Epub 2021 Mar 1.

Universidad Nacional Autonoma de Mexico, Mexico City, Mexico.

Background: Moebius syndrome is a disorder characterized by facial and abducens nerve paralysis. Patients can present a wide range of upper extremity malformations. Literature focused on orthopedic manifestations of Moebius syndrome shows variability in the prevalence and clinical presentation of upper extremity anomalies. Read More

J Plast Reconstr Aesthet Surg 2021 07 31;74(7):1423-1435. Epub 2021 Jan 31.

Department of Plastic and Reconstructive Surgery, Great Ormond Street Hospital for Children, NHS Foundation Trust, London, United Kingdom; Department of Plastic and Hand Surgery; Inselspital, Bern University Hospital, Bern, Switzerland; Professor at University College of London, Division of Surgery and Interventional Science, London, United Kingdom.

Background: Pediatric facial palsy represents a rare multifactorial entity. Facial reanimation restores smiling, thus boosting self-confidence and social integration of the affected children. The purpose of this paper is to present a systematic review of microsurgical workhorse free functional muscle transfer procedures with emphasis on the long-term functional, aesthetic, and psychosocial outcomes. Read More

Ann Plast Surg 2021 11;87(5):547-551

From the Department of Plastic, Reconstructive, and Aesthetic Surgery, the University of Tokyo Hospital, Tokyo, Japan.

Background: Facial plastic surgeons often encounter patients experiencing untreated long-standing facial paralysis who are unaware that their condition can be managed by facial reconstructive procedures. To promote timely admission of patients with facial paralysis for facial plastic surgery, factors associated with late admission should be elucidated.

Methods: A retrospective chart review was conducted on patients admitted to our facial paralysis clinic. Read More

Acta Otolaryngol 2021 Apr 13;141(4):321-327. Epub 2021 Jan 13.

Department of Otolaryngology Head and Neck Surgery, Beijing Tongren Hospital, Capital Medical University, Ministry of Education Key Laboratory of Otolaryngology Head and Neck Surgery, Capital Medical University, Beijing, China.

Background: Implantable bone-conduction hearing aids (BCHA) are effective in patients with congenital ear malformations.However, there is no large sample study to verify the efficacy of Bonebridge in patients with congenital oval window atresia.

Objectives: To investigate efficiency of implantable bone-conduction hearing aids in Mandarin-speaking patients with congenital oval window atresia. Read More

Qual Health Res 2021 05 11;31(6):1019-1028. Epub 2021 Jan 11.

University of the West of England, Bristol, United Kingdom.

Congenital facial palsy is a rare medical condition that causes paralysis of the facial muscles, lack of facial expression, and an unusual appearance. Findings from developmental psychology suggest that the face plays a central role in the construction of self. Semi-structured interviews were conducted with 14 adults born with congenital facial palsy. Read More

J Cogn Neurosci 2021 04 8;33(4):611-621. Epub 2021 Jan 8.

Harvard University.

All it takes is a face-to-face conversation in a noisy environment to realize that viewing a speaker's lip movements contributes to speech comprehension. What are the processes underlying the perception and interpretation of visual speech? Brain areas that control speech production are also recruited during lipreading. This finding raises the possibility that lipreading may be supported, at least to some extent, by a covert unconscious imitation of the observed speech movements in the observer's own speech motor system-a motor simulation. Read More

Aesthetic Plast Surg 2021 06 5;45(3):1127-1136. Epub 2021 Jan 5.

Department of Otolaryngology, University of Florida College of Medicine, Gainesville, FL, USA.

Background: Nasal valve collapse is relatively common with a lifetime prevalence of up to 13%. Etiologies include prior rhinoplasty, other surgical procedures, facial paralysis, congenital defects, trauma, and aging. Internal nasal valve collapse leads to impairment of nasal breathing, which significantly disturbs quality of life. Read More