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J Craniofac Surg 2018 Nov 22. Epub 2018 Nov 22.

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

Ann Otol Rhinol Laryngol 2018 Oct 22:3489418808304. 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

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

Laryngoscope 2018 Sep 12. 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

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

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

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

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

JAMA Otolaryngol Head Neck Surg 2018 Aug;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

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

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:

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

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

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

Childs Nerv Syst 2018 May 9;34(5):911-917. Epub 2018 Feb 9.

Department of Pediatric Neurology, Ankara Children's Hematology-Oncology Training and Research Hospital, Ankara, Turkey.

Objective: The objectives of this study were to evaluate the demographic and clinical characteristics, causes, treatment patterns, outcome, and recurrence of childhood peripheral facial palsy.

Methods: We performed a retrospective study of 144 peripheral facial palsy patients, under 18 years old in a tertiary care pediatric hospital. Medical charts were reviewed to analyze the age, gender, side of facial nerve paralysis, family history, cause, grading by the House-Brackmann Facial Nerve Grading Scale (HBS), results of diagnostic tests, therapies, outcomes, and recurrence. Read More

J Craniofac Surg 2018 May;29(3):572-577

Department of Plastic and Reconstructive Surgery, Toho University Hospital, Tokyo, Japan.

Background: Lengthening temporalis myoplasty is a faster and less invasive alternative to free muscle transfer for smile reconstruction. However, it requires a nasolabial fold incision, which leaves a midfacial scar. Based on esthetic considerations, a modified approach, involving an extended lazy-S (parotidectomy) incision instead of a nasolabial fold incision, was developed. Read More

BMJ Case Rep 2018 Jan 17;2018. Epub 2018 Jan 17.

Department of Pediatrics, University of Alberta, Edmonton, Alberta, Canada.

A premature infant of 25 weeks' gestational age presented at 8 weeks after birth with otorrhoea from the left ear. Following a course of topical and systemic antibiotics, the patient deteriorated developing facial nerve paralysis and cervical lymphadenitis. Contrast-enhanced CT and MRI of the head showed a destructive process of the left temporal bone. Read More

Arch Argent Pediatr 2018 Feb;116(1):e121-e124

Servicio de Dermatología, Hospital Nacional de Pediatría "Prof. Dr. J. P. Garrahan", Ciudad Autónoma de Buenos Aires.

Phakomatosis pigmentovascularis (PPV) is a syndrome characterized by the association of a vascular nevus with a congenital pigmented lesion (epidermal nevus, nevus spilus, and dermal melanocytosis). There are different types of PPV according to the pigmentary nevus associated with the vascular malformation. Patients may present only the cutaneous condition or have systemic manifestations, among them, trauma, neurological and ophthalmological disorders. Read More

Int J Pediatr Otorhinolaryngol 2018 Jan 29;104:14-18. Epub 2017 Oct 29.

Department of Otolaryngology-Head and Neck Surgery, Shanghai Children's Hospital, Shanghai Jiao Tong University, Shanghai, 200062, China. Electronic address:

Background: Branchial anomalies (BAs) account for 20% of all congenital masses in children. We sought to review the incidence of involvement of individual anomalies, diagnostic methods, surgical treatment, and complications of BAs in children. In addition, we also classified our study and analyzed a congenital lower neck cutaneous fistula near the sternoclavicular joint that was thought to be the skin-side remnant of the fourth BAs. Read More

Rom J Morphol Embryol 2017 ;58(3):851-855

Department of Anatomy and Embryology, "Grigore T. Popa" University of Medicine and Pharmacy, Iasi, Romania;

Moebius syndrome, also called congenital facial paralysis is a rare neurological disease, whose etiology is not fully elucidated. It affects especially facial and oculomotor cranial nerves and its clinical feature is peripheral facial paralysis. The objective of the study is to highlight the anatomical and functional changes in the Moebius syndrome and establish certain criteria that should be the basis for reparative surgery in this disease. Read More

Otol Neurotol 2018 01;39(1):106-110

Department of Otolaryngology, Graduate School of Medicine, The University of Tokyo, Bunkyo-ku.

Objectives: Congenital unilateral lower lip palsy (CULLP) is a congenital facial asymmetry in which one corner of the mouth does not dip downward symmetrically (Kobayashi, 1979). We analyzed the electrophysiological findings in cases of CULLP to understand the facial nerve mechanisms underlying this pathological condition.

Methods: The electrophysiological findings in 20 patients with CULLP including an electroneuronography (ENoG) of the orbicularis oris muscle, nerve excitability test (NET) results, and the blink reflex (BR) were analyzed. Read More

Ann Chir Plast Esthet 2018 Jul 15;63(4):338-342. Epub 2017 Nov 15.

Plastic and Reconstructive Surgery Department, Hospital General "Dr. Manuel Gea González", Avenida Calzada de Tlalpan #4800, Col. Sección XVI, Delegación Tlalpan, 14080 Mexico City, Mexico. Electronic address:

Introduction: Möbius syndrome is defined as a combined congenital bilateral facial and abducens nerve palsies. The main goal of treatment is to provide facial reanimation by means of a dynamic surgical procedure. The microneurovascular transfer of a free muscle transplant is the procedure of choice for facial animation in a child with facial paralysis. Read More

J Prosthodont 2018 Mar 3;27(3):299-305. Epub 2017 Nov 3.

Department of Restorative Dentistry, University of Illinois at Chicago, College of Dentistry, Chicago, IL.

Moebius/Mӧbius Syndrome (MS) is an extremely rare congenital disorder characterized by uni- or bilateral palsy of the abducens (VI) and the facial (VII) nerves, causing facial paralysis. Dysfunction of cranial nerves III through XII is common, most often the glossopharyngeal (IX) and hypoglossus (XII). Afflicted individuals seeking prosthodontic care, particularly removable prosthetics, present multiple challenges related to inherent facial and tongue muscle weakness and microstomia. Read More

Turk Pediatri Ars 2017 Sep 1;52(3):165-168. Epub 2017 Sep 1.

Department of Pediatrics, Division of Pediatric Neurology, Necmettin Erbakan University Meram Medical Faculty, Konya, Turkey.

Möbius' syndrome, also known as Möbius' sequence, is a nonprogressive cranial dysinnervation disorder characterized by congenital facial and abducens nerve paralysis. Here, we report a 5-day-old girl who was conceived after in vitro fertilization with poor suck and facial paralysis. She had bilaterally ptosis and lateral gaze limitation, left-sided deviation of the tongue, dysmorphic face, hypoplastic fingers and finger nails on the left hand, and was diagnosed as having Möbius' syndrome. Read More

Hum Mol Genet 2017 10;26(20):4055-4066

Institute of Human Genetics, University Hospital Cologne, 50931 Cologne, Germany.

Congenital cranial dysinnervation disorders (CCDDs) comprise a heterogeneous spectrum of diseases characterized by congenital, non-progressive impairment of eye, eyelid and/or facial movements including Möbius syndrome, Duane retraction syndrome, congenital ptosis, and congenital fibrosis of the extraocular muscles. Over the last 20 years, several CCDDs have been identified as neurodevelopmental disorders that are caused by mutations of genes involved in brain and cranial nerve development, e.g. Read More

Facial Plast Surg 2017 Oct 29;33(5):499-508. Epub 2017 Sep 29.

Department of Pediatrics, McMaster University, Hamilton, Ontario, Canada.

Otol Neurotol 2017 12;38(10):1426-1432

*College of Medicine †Division of Otolaryngology-Head and Neck Surgery, Department of Surgery, College of Medicine, The Pennsylvania State University, Hershey, Pennsylvania ‡Department of Otolaryngology, West Virginia University, Morgantown, West Virginia.

Objective: To determine perioperative morbidity of children ≤12 months undergoing cochlear implantation (CI).

Study Design: Retrospective analysis using the American College of Surgeons National Surgical Quality Improvement Program Pediatric Database (ACS-NSQIP-P).

Setting: General acute care children's hospitals, children's hospitals within larger hospitals, specialty children's hospitals, and general acute care hospitals with a pediatric wing. Read More

Cancer Biomark 2017 Aug;20(2):199-205

Objective: This study aims to discuss clinical characteristics, image manifestation and treatment methods of temporal bone lesions with facial paralysis as the main manifestation for deepening the understanding of such type of lesions and reducing erroneous and missed diagnosis.

Methods: The clinical data of 16 patients with temporal bone lesions and facial paralysis as main manifestation, who were diagnosed and treated from 2009 to 2016, were retrospectively analyzed. Among these patients, six patients had congenital petrous bone cholesteatoma (PBC), nine patients had facial nerve schwannoma, and one patient had facial nerve hemangioma. Read More

Laryngorhinootologie 2017 Jun 11;96(6):350-351. Epub 2017 Jul 11.

Chin Med Sci J 2017 Jun;32(2):129-1

Department of Pediatrics, the First Hospital, Jilin University, Changchun, Jilin 130021, China.

J Craniomaxillofac Surg 2017 Jul 7;45(7):1051-1057. Epub 2017 Apr 7.

Maxillo-Facial Surgery Division (Head: Prof. Enrico Sesenna), Head and Neck Department, University Hospital of Parma, Parma, Italy.

Background: Unilateral established or congenital facial palsies are usually treated with neuromuscular transplantation to reanimate the impaired side of the face. One of the most debated points is the motor nerve to choose for the reinnervation of the transplant. Contra-lateral healthy facial nerve is usually preferred, but in selected cases motor nerve to masseter is considered a valuable option. Read More

Res Dev Disabil 2017 May 10;64:143-151. Epub 2017 Apr 10.

Department of Psychology, St. Cloud State University, United States.

Background: Moebius syndrome is a rare congenital disorder resulting in impaired facial and eye movement. People with rare diseases like Moebius syndrome experience stigma and a lack of specialized information. Support conferences may provide important forms of social support for people with rare disorders. Read More

Am J Med Genet A 2017 May 20;173(5):1208-1218. Epub 2017 Mar 20.

Department of Pediatric and Neonatology, Inter-Regional Center for Rare-Diseases, San Paolo Hospital, Savona, Italy.

Hemifacial microsomia (HFM) is a rare, multisystemic congenital disease with estimated frequency of 1/26370 births in Europe. Most cases are sporadic and caused by unilateral abnormal morphogenesis of the first and second pharyngeal arches. The aim of this study is to define the types and frequency of maxillofacial and systemic malformations in HFM patients. Read More

Cold Spring Harb Mol Case Stud 2017 03;3(2):a000984

Department of Pediatrics, University of Montreal, Montreal, Quebec H3T 1C5, Canada.

Moebius syndrome is characterized by congenital unilateral or bilateral facial and abducens nerve palsies (sixth and seventh cranial nerves) causing facial weakness, feeding difficulties, and restricted ocular movements. Abnormalities of the chest wall such as Poland anomaly and variable limb defects are frequently associated with this syndrome. Most cases are isolated; however, rare families with autosomal dominant transmission with incomplete penetrance and variable expressivity have been described. Read More

Acta Otolaryngol 2017 Jul 26;137(7):686-689. Epub 2017 Jan 26.

a Department of Otolaryngology , Sapporo Medical University School of Medicine , Sapporo , Japan.

Conclusion: This is the first report to investigate the correlation between ear anomalies related to the development of specific ear structures and chorda tympani dysfunction (CTD) in congenital microtia. CTD is not always consistent with the severity of the ear anomaly or the presence of facial nerve paralysis (FNP).

Objectives: To investigate the relationship between the severity of ear anomalies and CTD as well as FNP in congenital microtia. Read More

Actas Dermosifiliogr 2017 Nov 19;108(9):e57-e62. Epub 2017 Jan 19.

Servicio de Anatomía Patológica, Complejo Hospitalario de Toledo, Toledo, España.

Congenital melanocytic nevus syndrome (CMNS) is the result of an abnormal proliferation of melanocytes in the skin and central nervous system caused by progenitor-cell mutations during embryonic development. Mutations in the NRAS gene have been detected in many of these cells. We present 5 cases of giant congenital melanocytic nevus, 3 of them associated with CMNS; NRAS gene mutation was studied in these 3 patients. Read More

J Pak Med Assoc 2017 Jan;67(1):66-72

Department of Plastic Reconstructive and Aesthetic Surgery, Gulhane Military Medical Faculty, Ankara, Turkey.

Objective: To investigate the effects of plastic, reconstructive and aesthetic surgery educational internships on medical students' perceptions of the scope of plastic surgery.

Methods: This cross-sectional study was conducted at the Gulhane Medical Faculty, Ankara, Turkey, from 2012 to 2013, and comprised 4th-, 5th- and 6th-year medical students. Students were given a questionnaire consisting of 28 questions related to maxillofacial and upper and lower extremity medical conditions, and skin, aesthetic and congenital anomalies. Read More

Orphanet J Rare Dis 2017 01 6;12(1). Epub 2017 Jan 6.

Center for Rare Diseases, Department of Pediatrics, Aarhus University Hospital, Aarhus, Denmark.

Background: Moebius Sequence (MS) is a rare disorder defined by bilateral congenital paralysis of the abducens and facial nerves in combination with various odontological, craniofacial, ophthalmological and orthopaedic conditions. The aetiology is still unknown; but both genetic (de novo mutations) and vascular events in utero are reported. The purpose of present study was through a multidisciplinary clinical approach to examine children diagnosed with Moebius-like symptoms. Read More

J Craniofac Surg 2017 Jan;28(1):e61-e64

Department of Plastic and Reconstructive Surgery, Dongguk University Medical Center, Dongguk University Graduate School of Medicine, GyeongGi-do, South Korea.

Facial synkinesis is the simultaneous contraction of the certain facial musculature accompanying a motion of designated muscle in the face. With the exception of rare afflictions that are congenital in origin, most patients develop as a sequel to facial nerve paralysis due to trauma, tumor, and surgical injury. As an idiopathic congenital form, oculo-nasal synkinesis which reveals co-contraction of orbicularis oculi and the compressor narium minor muscles which are innervated by separate branches of the facial nerve have been already reported. Read More

Ann Chir Plast Esthet 2016 Oct 13;61(5):513-518. Epub 2016 Sep 13.

Service de chirurgie plastique, reconstructrice et esthétique, hôpital Roger-Salengro, CHU de Lille, rue Émile-Laine, 59000 Lille, France.

Facial palsy (FP) in children is congenital or acquired. When present at birth (congenital), etiologies are mostly traumatic and rarely developmental. Acquired FP needs investigation. Read More

Facial Plast Surg Clin North Am 2016 Nov;24(4):573-575

Facial Plastic & Reconstructive Surgery, Department of Otolaryngology-Head & Neck Surgery, Johns Hopkins School of Medicine, 601 North Caroline Street, Suite 6231, Baltimore, MD 21287, USA. Electronic address:

Facial nerve paralysis, although uncommon in the pediatric population, occurs from several causes, including congenital deformities, infection, trauma, and neoplasms. Similar to the adult population, management of facial nerve disorders in children includes treatment for eye exposure, nasal obstruction/deviation, smile asymmetry, drooling, lack of labial function, and synkinesis. Free tissue transfer dynamic restoration is the preferred method for smile restoration in this population, with outcomes exceeding those of similar procedures in adults. Read More

Brain Dev 2017 Feb 15;39(2):166-170. Epub 2016 Sep 15.

Department of Medical Genetics, Intergen Laboratory, Ankara, Turkey.

Hereditary congenital facial paresis (HCFP) is characterized by isolated dysfunction of the facial nerve (CN VII) due to congenital cranial dysinnervation disorders. HCFP has genetic heterogeneity and HOXB1 is the first identified gene. We report the clinical, radiologic and molecular investigations of three patients admitted for HCFP in a large consanguineous Turkish family. Read More

Plast Reconstr Surg 2016 Sep;138(3):506e-9e

Lille and Caen, France; and Jeddah, Saudi Arabia From the Department of Plastic, Reconstructive and Aesthetic Surgery, Roger Salengro Hospital, University Hospitals of Lille; the Department of Plastic and Reconstructive Surgery, Clinique Saint Martin; and the Department of Plastic, Reconstructive and Aesthetic Surgery, King Fahad Hospital.

Lengthening temporalis myoplasty is a well-established procedure for dynamic palliative reanimation of the lip in facial palsy sequelae. The particularity of this technique is that the entire temporal muscle is transferred from the coronoid process to the upper half of the lip without interposition of aponeurotic tissue. To date, no video describing the technique was available. Read More

Int J Pediatr Otorhinolaryngol 2016 Aug 20;87:185-9. Epub 2016 May 20.

Department of Otolaryngology Head and Neck Surgery, Beijing Tongren Hospital, Capital Medical University, Key Laboratory of Otolaryngology Head and Neck Surgery, Ministry of Education, Beijing, 100730, China.

Objective: To investigate the long-term effectiveness of transmastoid lateral semicircular canal approach (TMLSCCA) to repair cerebrospinal fluid (CSF) leakage in children associated with recurrent meningitis and severe congenital inner malformation.

Method: A retrospective study was conducted in a university hospital, academic medical center. Fifteen children with recurrent meningitis, secondary to severe congenital inner ear malformation, were included in the study. Read More

J Craniomaxillofac Surg 2016 Aug 17;44(8):934-9. Epub 2016 May 17.

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

Purpose: Gracilis muscle reinnervated by the contralateral facial nerve via cross-graft technique is nowadays considered to be a first-line procedure for facial animation in unilateral palsies. Despite the wide number of papers published analyzing technical aspects, refinements, functional results, and cosmetic outcomes, only a few authors have focused their publications on the patient's perspective and impact on QOL of these procedures.

Material And Methods: Changes in quality of life in 42 patients treated with gracilis muscle transplant reinnervated via cross-face graft were analyzed through a comparison of preoperative and postoperative items on the Facial Disability Index questionnaire. Read More

Ital J Pediatr 2016 Jun 3;42(1):56. Epub 2016 Jun 3.

Medical Genetic Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.

Background: Moebius syndrome (MBS) is rare disease characterized by nonprogressive congenital uni- or bi-lateral facial (i. e. VII cranial nerve) and abducens (i. Read More

Eye Sci 2015 Dec;30(4):147-50

Background: Facial nerve palsy (FNP) occurs less frequently in children as compared to adults but most cases are secondary to an identifiable cause. These children may have a variety of ocular and systemic features associated with the palsy and need detailed ophthalmic and systemic evaluation.

Methods: This was a retrospective chart review of all the cases of FNP below the age of 16 years, presenting to a tertiary ophthalmic hospital over the period of 9 years, from January 2000 to December 2008. Read More

Am J Med Genet A 2016 07 4;170(7):1813-9. Epub 2016 May 4.

Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

Hereditary congenital facial paresis (HCFP) belongs to the congenital cranial dysinnervation disorders. HCFP is characterized by the isolated dysfunction of the seventh cranial nerve and can be associated with hearing loss, strabismus, and orofacial anomalies. Möbius syndrome shares facial palsy with HCFP, but is additionally characterized by limited abduction of the eye(s). Read More

ORL J Otorhinolaryngol Relat Spec 2016 23;78(2):105-10. Epub 2016 Mar 23.

Department of Otolaryngology-Head and Neck Surgery, The University of Tokyo Graduate School of Medicine, Tokyo, Japan.

The association between congenital facial paralysis and visual development has not been thoroughly studied. Of 27 pediatric cases of congenital facial paralysis, we identified 3 patients who developed amblyopia, a visual acuity decrease caused by abnormal visual development, as comorbidity. These 3 patients had facial paralysis in the periocular region and developed amblyopia on the paralyzed side. Read More

J Clin Virol 2016 May 10;78:62-5. Epub 2016 Mar 10.

Department of Neurology, Haukeland University Hospital, Bergen, Norway; Department of Clinical medicine, University of Bergen, Norway.

The etiologies of Bell's palsy and brachial neuritis remain uncertain, and the conditions rarely co-occur or reoccur. Here we present a woman in her twenties who had several relapsing-remitting episodes with left-sided facial palsy and brachial neuropathy. The episodes always started with painful left-sided oral blisters. Read More