Search Our Scientific Publications & Authors

Muscle Nerve 2021 04 19;63(4):516-524. Epub 2021 Jan 19.

Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.

Introduction: Congenital facial weakness (CFW) can result from facial nerve paresis with or without other cranial nerve and systemic involvement, or generalized neuropathic and myopathic disorders. Moebius syndrome is one type of CFW. In this study we explored the utility of electrodiagnostic studies (EDx) in the evaluation of individuals with CFW. Read More

J Craniomaxillofac Surg 2020 Dec 31;48(12):1132-1137. Epub 2020 Oct 31.

Maxillo-Facial Specialist in the Maxillo-Facial Surgery Operative Unit, Head and Neck Department, University of Parma, Via Gramsci 14, 43126, Parma, Italy. Electronic address:

Gracilis neuromuscular transplant is considered the gold standard for facial animation in Moebius syndrome patients. However, long-term evaluation of the results has not been critically examined in the international literature. Thus, it remains unknown how the transplanted flap changes with facial growth, and whether contraction (smiling) is maintained. Read More

Clin Imaging 2021 Mar 6;71:106-116. Epub 2020 Nov 6.

Department of Diagnostic Radiology, Mansoura Faculty of Medicine, Mansoura, Egypt.

We aim to review the imaging features of congenital cranial dysinnervation disorders. Characteristic imaging findings can define subtypes of these disorders through assessment of cranial nerves, extraocular muscles, orbital, and brain abnormalities. Duane retraction syndrome shows absent or hypoplasic 6th cranial nerve and preserved extraocular muscles (EOM). Read More

Cureus 2020 Sep 2;12(9):e10215. Epub 2020 Sep 2.

Pediatrics, Ascension Sacred Heart Hospital, University of Florida, Pensacola, USA.

Poland-Mobius syndrome is a rare congenital disorder that includes features of Poland and Mobius syndromes. It is characterized by unilateral or bilateral congenital facial weakness, impairment of abduction of eyes, associated limb anomalies, and aplasia or hypoplasia of the pectoralis muscle. We describe a case of Poland-Mobius syndrome in a neonate associated with unilateral vocal cord immobility. Read More

Graefes Arch Clin Exp Ophthalmol 2021 Jan 19;259(1):145-155. Epub 2020 Sep 19.

Department of Ophthalmology, Faculty of Medicine and University Hospital Cologne, University of Cologne, Kerpener Strasse 62, 50937, Cologne, Germany.

Background: For some patients with complex ocular motility disorders, conventional strabismus surgery is insufficient. Surgery with tendon elongation allows correction of larger angles and maintains a sufficient arc of contact for rectus muscles. This study reports results for tendon elongation with bovine pericardium (Tutopatch®) in indications other than Graves' orbitopathy in which it is already widely used. Read More

Int J Environ Res Public Health 2020 07 30;17(15). Epub 2020 Jul 30.

Oxford Facial Palsy Service, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 9DU, UK.

Introduction: Facial palsy is often associated with impaired facial function and altered appearance. However, the literature with regards to the psychological adjustment of children and adolescents with facial palsy has not been systematically reviewed to date. This paper aimed to review all published research with regards to psychosocial adjustment for children and adolescents with facial palsy. Read More

Am J Audiol 2020 Jun 21;29(2):236-243. Epub 2020 May 21.

School of Public Health, Shandong University, Jinan, China.

Objectives The purpose of this study is to ascertain the etiology of bilateral sensorineural hearing loss (SNHL) in children aged ≤ 18 years living in Shandong province. Method Data were taken from a cross-sectional study, which was conducted between 2015 and 2017. The study included children aged ≤ 18 years, recruited from special schools for children with hearing loss and from hearing rehabilitation centers in Shandong province of China. Read More

Acad Emerg Med 2020 07 23;27(7):644-645. Epub 2020 Jun 23.

Vivantes Humboldt Klinikum, Zentrale Notfallversorgung, Berlin, Germany.

Elife 2020 05 4;9. Epub 2020 May 4.

Department of Psychology, Harvard University, Cambridge, United States.

What mechanisms underlie facial expression recognition? A popular hypothesis holds that efficient facial expression recognition cannot be achieved by visual analysis alone but additionally requires a mechanism of motor simulation - an unconscious, covert imitation of the observed facial postures and movements. Here, we first discuss why this hypothesis does not necessarily follow from extant empirical evidence. Next, we report experimental evidence against the central premise of this view: we demonstrate that individuals can achieve normotypical efficient facial expression recognition despite a congenital absence of relevant facial motor representations and, therefore, unaided by motor simulation. Read More

J Neuromuscul Dis 2020 ;7(3):309-313

Sección Neurología Infantil, Servicio de Neurología, Hospital Universitario 12 de Octubre, Universidad Complutense de Madrid, Spain.

Carey-Fineman-Ziter syndrome is a congenital myopathy associated with mutations in the MYMK gene. It is clinically defined by the combination of hypotonia, Moebius-Robin sequence, facial anomalies and motor delay. Historically it was considered a brainstem dysgenesis syndrome. Read More

Radiol Case Rep 2020 Apr 5;15(4):379-381. Epub 2020 Feb 5.

Department of Radiology, University of Texas Southwestern Medical Center, 5323 Harry Hines Blvd, Dallas, TX 75390, USA.

Poland syndrome refers to a chest wall disorder in which there is a deficiency of the pectoral musculature. Möbius syndrome is a rare disorder in which there is absence or hypoplasia of the facial or abducens nerve, either unilaterally or bilaterally. Described here is a case in a newborn male in which both conditions manifest simultaneously as Poland-Möbius syndrome. Read More

J AAPOS 2020 04 23;24(2):115-118. Epub 2020 Jan 23.

Department of Ophthalmology and Visual Sciences, Illinois Eye and Ear Infirmary, University of Illinois at Chicago, Chicago, Illinois. Electronic address:

Townes-Brocks syndrome (TBS) is a rare genetic syndrome associated with heterozygous mutations in SALL1 and characterized by abnormalities of the anus, ear, and thumb. Ophthalmic findings have been rarely reported and include congenital cataract, microphthalmia, optic nerve atrophy, coloboma, epibulbar dermoid, and dysinnervation patterns, such as Duane syndrome and gustatory lacrimation. We report a case of genetically confirmed TBS showing a spectrum of ocular anomalous innervations, including bilateral type 1 Duane syndrome and Möbius sequence, left-sided Marcus Gunn jaw winking, left eye gustatory lacrimation, and lack of emotional tearing bilaterally. Read More

Cir Cir 2020 ;88(1):71-75

División de Estudios de Posgrado, Universidad Nacional Autónoma de México. Ciudad de México, México.

Background: Moebius syndrome is a clinical entity characterized by bilateral facial and abducens nerve palsies; other cranial nerver might be affected as well. So far, no studies have reported the electromyographic responses of the facial musculature in this group of patients.

Objective: The objective of our study is to describe the electromyographic responses of the facial muscle and the main donor nerves for facial reanimation in patients with Moebius syndrome. Read More

Int J Pediatr Otorhinolaryngol 2020 Apr 30;131:109842. Epub 2019 Dec 30.

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

Objectives: Classically, Pierre Robin Sequence (PRS) is a triad of micrognathia, glossoptosis, and airway obstruction, although frequently associated with cleft palate. Current literature reports that Stickler syndrome is the most common syndrome associated with PRS, and 22q11 deletion syndrome (22q11 DS) as the second most common. This study identifies associations between PRS and genetic syndromes. Read More

Dev Med Child Neurol 2020 04 12;62(4):521-527. Epub 2019 Nov 12.

Centre de Référence des Fentes et Malformations Faciales 'MAFACE', Hôpital Necker-Enfants-Malades, Paris, France.

Aim: To review orofacial disabilities and their consequences in children with Moebius syndrome (MBS).

Method: We retrospectively analysed the records of 32 patients (21 males, 11 females) with non-progressive bilateral facial and abducens palsies who had been examined before 6 months of age.

Results: All facial muscles were severely involved in 17 patients; in the 15 others, partial movements were found in the lower face. Read More

J Oral Maxillofac Surg 2020 Jan 29;78(1):87-90. Epub 2019 Aug 29.

Researcher, Program on Integrated Dental Sciences, Faculty of Dentistry, University of Cuiabá, Cuiabá, Brazil; Staff and Academic Coordinator, Department of Oral and Maxillofacial Surgery, General Hospital of Cuiabá, Cuiabá, Brazil; and Visiting Researcher, Department of Oral and Maxillofacial Surgery, University of Illinois at Chicago, Chicago, IL. Electronic address:

Ankyloglossia superior is an exceedingly rare congenital condition that consists of a connection between the tongue and hard palate. This abnormality is considered part of the ankyloglossia superior syndrome when found with other malformations such as limb deformities, gastrointestinal malformation, and cleft palate. Ankyloglossia superior can also be associated with other known syndromes. Read More

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

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

J Craniofac Surg 2020 Jan/Feb;31(1):183-185

Plastic and Reconstructive Surgery Division, Hospital General "Dr Manuel Gea Gonzalez," Postgraduate Division of the Medical School, Universidad, Nacional Autonoma de Mexico.

Background: Airway management in patients with Moebius syndrome can be difficult due to the presence of orofacial malformations. This paper aims to present our institution's experience in the evaluation and management of the upper airway in patients with Moebius syndrome METHODOLOGY:: The authors performed a retrospective study including every patient with Moebius syndrome submitted to surgery between 2012 and 2017. Difficult airway was defined as one requiring more than 2 attempts to achieve endotracheal tube placement, a Mallampati score equal or above III, a Cormack score equal or above III, or need of a fiberscope during intubation. Read More

Eur J Paediatr Dent 2019 Jun;20(2):143-146

Department and Clinic of Maxillofacial Orthopaedics and Orthodontics of Poznan University of Medical Sciences.

Aim: Moebius syndrome (MBS) is a rare disorder which involves unilateral or bilateral paralysis or lack of the VI and VII cranial nerves. This is accompanied by abnormalities affecting the head, mouth, upper and lower limbs, and chest. A distinguishing feature of this syndrome is the so-called mask-like face. Read More

Rheumatol Int 2019 Sep 7;39(9):1651-1654. Epub 2019 Jun 7.

Department of Neurology, First Hospital, Shanxi Medical University, No. 85, Jiefang Nan Street, Taiyuan, China.

Primary Sjögren's syndrome (pSS) is a chronic autoimmune disorder associated with a variety of systemic presentations. Varied neurological dysfunctions of newly diagnosed adult patients with pSS have been observed in recent years. We aimed to describe a rare case of acute bilateral facial paralysis diagnosed with pSS for the first time and review the previous studies including similar cases. Read More

Biochim Biophys Acta Rev Cancer 2019 08 30;1872(1):103-110. Epub 2019 May 30.

Department of Biochemistry and Molecular Biology, Mayo Clinic, Jacksonville, FL, USA. Electronic address:

Plexin D1 belongs to a family of transmembrane proteins called plexins. It was characterized as a receptor for semaphorins and is known to be essential for axonal guidance and vascular patterning. Mutations in Plexin D1 have been implicated in pathologic conditions such as truncus arteriosus and Möbius syndrome. Read More

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

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

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

Strabismus 2019 06 8;27(2):43-46. Epub 2019 Apr 8.

a Departments of Ophthalmology and Visual Sciences and Pediatrics, St. Louis Children's Hospital, Washington University School of Medicine , St. Louis , MO.

: Mobius sequence is a rare disorder that results from underdevelopment of the sixth and seventh cranial nerves, with subsequent facial weakness and impairment of ocular abduction. Approximately half of the affected patients have esotropia with limitation of extraocular movements. This study retrospectively reviews the long-term outcome of strabismus surgery for such patients. Read More

AJNR Am J Neuroradiol 2019 05 4;40(5):862-865. Epub 2019 Apr 4.

Department of Radiology (M.C.), University of North Carolina, Chapel Hill, North Carolina.

Background And Purpose: Moebius sequence comprises a spectrum of brain congenital malformations predominantly affecting the function of multiple cranial nerves. Reported neuroimaging findings are heterogeneous and based on case reports or small case series. Our goal was to describe the neuroimaging findings of Moebius sequence in a large population of patients scanned with MR imaging. Read More

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

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

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

An Pediatr (Barc) 2019 Oct 21;91(4):264-267. Epub 2018 Dec 21.

Servicio de Otorrinolaringología, Hospital Interzonal Especializado Materno Infantil «Don Victorio Tetamanti», Mar del Plata, Buenos Aires, Argentina.