The Experts below are selected from a list of 513 Experts worldwide ranked by ideXlab platform
Barbara Zoll - One of the best experts on this subject based on the ideXlab platform.
-
overlap of Moebius and oromandibular limb hypogenesis Syndrome with gastroschisis and pulmonary hypoplasia
American Journal of Medical Genetics Part A, 2009Co-Authors: Knut Brockmann, Heiko Backes, Bernd Auber, Thomas Kriebel, Franziska Stellmer, Barbara ZollAbstract:The oromandibular limb hypogenesis Syndromes (OLHS) represent a group of rare conditions characterized by congenital malformations involving the tongue, mandible, and limbs. There is considerable overlap between the Syndromes gathered under the term OLHS, and a marked variability of face and limb anomalies as well as additional malformations. In this report we describe a girl with gastroschisis and pulmonary hypoplasia in addition to features of Moebius Syndrome comprising hypoplasia of the tongue and mandible, brachydactyly of halluces, cranial nerve palsies with bilateral facial paralysis and an inability to execute horizontal eye movements. Karyotyping and array-based comparative genomic hybridization were normal. This observation confirms an overlap between Moebius Syndrome and OLHS and widens the spectrum of associated malformations. Intrauterine environmental factors including vascular insufficiency, high maternal fever, and drug abuse are likely to play a crucial role in the pathogenesis of this condition.
Loch,luiz Fernando - One of the best experts on this subject based on the ideXlab platform.
-
Association of misoprostol, Moebius Syndrome and congenital central alveolar hypoventilation: case report
Academia Brasileira de Neurologia - ABNEURO, 1999Co-Authors: Nunes,magda Lahorgue, Friendrich,maurÍcio A. G., Loch,luiz FernandoAbstract:We report a case showing the association of Moebius Syndrome, the use of misoprostol during pregnancy and the development of central congenital alveolar hypoventilation. Pathophysiological aspects of these three diseases are discussed and also the unfavorable prognosis of this association
-
Associação de misoprostol, síndrome de Moebius e hipoventilação central congênita: relato de caso
Academia Brasileira de Neurologia - ABNEURO, 1999Co-Authors: Nunes,magda Lahorgue, Friendrich,maurÍcio A. G., Loch,luiz FernandoAbstract:We report a case showing the association of Moebius Syndrome, the use of misoprostol during pregnancy and the development of central congenital alveolar hypoventilation. Pathophysiological aspects of these three diseases are discussed and also the unfavorable prognosis of this association.Descrevemos o caso de um paciente com Síndrome de Moebius associada ao uso de misoprostol durante a gestação. A criança necessitou de suporte ventilatório desde o primeiro dia de vida e evoluiu com quadro de hipoventilação alveolar central congênita, persistindo dependente de ventilação mecânica. São discutidos aspectos fisiopatológicos que poderiam justificar a comorbidade destes três eventos, assim como o prognóstico reservado desta associação
Jamal Raza - One of the best experts on this subject based on the ideXlab platform.
-
novel fgf8 mutations associated with recessive holoprosencephaly craniofacial defects and hypothalamo pituitary dysfunction
The Journal of Clinical Endocrinology and Metabolism, 2011Co-Authors: Mark J Mccabe, Carles Gastonmassuet, Vaitsa Tziaferi, Louise C Gregory, Kyriaki S Alatzoglou, Massimo Signore, Eduardo Puelles, Dianne Gerrelli, Sadaf I Farooqi, Jamal RazaAbstract:Context: Fibroblast growth factor (FGF) 8 is important for GnRH neuronal development with human mutations resulting in Kallmann Syndrome. Murine data suggest a role for Fgf8 in hypothalamo-pituitary development; however, its role in the etiology of wider hypothalamo-pituitary dysfunction in humans is unknown.Objective: The objective of this study was to screen for FGF8 mutations in patients with septo-optic dysplasia (n = 374) or holoprosencephaly (HPE)/midline clefts (n = 47).Methods: FGF8 was analyzed by PCR and direct sequencing. Ethnically matched controls were then screened for mutated alleles (n = 480-686). Localization of Fgf8/FGF8 expression was analyzed by in situ hybridization in developing murine and human embryos. Finally, Fgf8 hypomorphic mice (Fgf8(loxPNeo/-)) were analyzed for the presence of forebrain and hypothalamo-pituitary defects.Results: A homozygous p.R189H mutation was identified in a female patient of consanguineous parentage with semilobar HPE, diabetes insipidus, and TSH and ACTH insufficiency. Second, a heterozygous p.Q216E mutation was identified in a female patient with an absent corpus callosum, hypoplastic optic nerves, and Moebius Syndrome. FGF8 was expressed in the ventral diencephalon and anterior commissural plate but not in Rathke's pouch, strongly suggesting early onset hypothalamic and corpus callosal defects in these patients. This was consolidated by significantly reduced vasopressin and oxytocin staining neurons in the hypothalamus of Fgf8 hypomorphic mice compared with controls along with variable hypothalamo-pituitary defects and HPE.Conclusion: We implicate FGF8 in the etiology of recessive HPE and potentially septo-optic dysplasia/Moebius Syndrome for the first time to our knowledge. Furthermore, FGF8 is important for the development of the ventral diencephalon, hypothalamus, and pituitary. (J Clin Endocrinol Metab 96: E1709-E1718, 2011)
Bryn D. Webb - One of the best experts on this subject based on the ideXlab platform.
-
differentiating Moebius Syndrome and other congenital facial weakness disorders with electrodiagnostic studies
Muscle & Nerve, 2021Co-Authors: Tanya Lehky, Ethylin Wang Jabs, Bryn D. Webb, Flavia M Facio, Reversa Joseph, Camilo Toro, Carol Van Ryzin, Andrea L Gropman, Brenda S BarryAbstract: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 (MBS) is one type of CFW. This study explored the utility of electrodiagnostic studies (EDX) in the evaluation of individuals with CFW. Methods Forty-three subjects enrolled prospectively into a dedicated clinical protocol and had EDX evaluations, including blink reflex, facial and peripheral nerve conduction studies, with optional needle electromyography. Results MBS and hereditary congenital facial paresis (HCFP) subjects had low amplitude CN7 responses without other neuropathic or myopathic findings. Carriers of specific pathogenic variants in TUBB3 had, in addition, a generalized sensorimotor axonal polyneuropathy with demyelinating features. Myopathic findings were detected in individuals with Carey-Fineman-Ziter Syndrome, myotonic dystrophy, other undefined myopathies or CFW with arthrogryposis, ophthalmoplegia and other system involvement. Discussion EDX in CFW subjects can assist in characterizing the underlying pathogenesis, as well as guide diagnosis and genetic counseling. This article is protected by copyright. All rights reserved.
-
brain phenotyping in Moebius Syndrome and other congenital facial weakness disorders by diffusion mri morphometry
Brain communications, 2020Co-Authors: Neda Sadeghi, Bryn D. Webb, Elizabeth B Hutchinson, Carol Van Ryzin, Edmond J Fitzgibbon, John A Butman, Flavia M Facio, Brian P Brooks, Francis S CollinsAbstract:: In this study, we used a novel imaging technique, DTI (diffusion tensor imaging)-driven tensor-based morphometry, to investigate brain anatomy in subjects diagnosed with Moebius Syndrome (n = 21), other congenital facial weakness disorders (n = 9) and healthy controls (n = 15). First, we selected a subgroup of subjects who satisfied the minimum diagnostic criteria for Moebius Syndrome with only mild additional neurological findings. Compared to controls, in this cohort, we found a small region of highly significant volumetric reduction in the paramedian pontine reticular formation and the medial longitudinal fasciculus, important structures for the initiation and coordination of conjugate horizontal gaze. Subsequently, we tested if volume measurements from this region could help differentiate individual subjects of the different cohorts that were included in our study. We found that this region allowed discriminating Moebius Syndrome subjects from congenital facial weakness disorders and healthy controls with high sensitivity (94%) and specificity (89%). Interestingly, this region was normal in congenital facial weakness subjects with oculomotor deficits of myopathic origin, who would have been classified as Moebius on the basis of purely clinical diagnostic criteria, indicating a potential role for diffusion MRI morphometry for differential diagnosis in this condition. When the entire Moebius Syndrome cohort was compared to healthy controls, in addition to this 'landmark' region, other areas of significantly reduced volume in the brainstem emerged, including the location of the nuclei and fibres of cranial nerve VI (abducens nerve), and fibres of cranial nerve VII (facial nerve), and a more rostral portion of the medial longitudinal fasciculus. The high sensitivity and specificity of DTI-driven tensor-based morphometry in reliably detecting very small areas of volumetric abnormality found in this study suggest broader applications of this analysis in personalized medicine to detect hypoplasia or atrophy of small pathways and/or brainstem nuclei in other neurological disorders.
-
Case Reports Mirror Movements Identified in Patients with Moebius Syndrome
2015Co-Authors: Bryn D. Webb, Tamiesha Frempong, Ethylin Wang Jabs, Harald Gaspar, Thomas P Naidich, Janet C RuckerAbstract:Background: Moebius Syndrome is a rare disorder with minimum clinical criteria of congenital facial weakness in association with impairment in abduction of one or both eyes. Mirror movements are not known to be associated with Moebius Syndrome. Case Report: We present three patients who meet minimum criteria for a diagnosis of Moebius Syndrome and who also display mirror movements. Discussion: This case series suggests that Moebius Syndrome may be associated with mirror movements. Further investigation to delineate the genetic etiologies of Moebius Syndrome is ongoing. Patients with Moebius Syndrome and mirror movements may represent a specific subclass of this disorder
-
characterization of ocular motor deficits in congenital facial weakness Moebius and related Syndromes
Brain, 2014Co-Authors: Janet C Rucker, Tamiesha Frempong, Bryn D. Webb, Harald Gaspar, Thomas P Naidich, Ethylin Wang JabsAbstract:Congenital facial weakness is present in a heterogeneous group of conditions. Among them is Moebius Syndrome, which has been defined as a disorder with congenital, non-progressive facial weakness and limited abduction of one or both eyes. It is typically attributed to agenesis of the abducens and facial cranial nerves. This paper details ocular motor findings of 40 subjects (23 months to 64 years; 24 females, 16 males) with congenital facial weakness: 38 presented at a Moebius Syndrome Conference and two were clinic patients. A new classification scheme of patterns based on ocular motor phenotype is presented. Of 40 subjects, 37 had bilateral and three had unilateral facial weakness. The most common ocular motor pattern (Pattern 1, n = 17, 43%) was bilateral horizontal gaze palsy with intact vertical range. Pattern 2 (n = 10, 26%) was bilateral horizontal gaze palsy with variable vertical limitations. Pattern 3, which was rare, was isolated abduction deficits (n = 2, 5%). Others had full motility range and did not meet minimal criteria for the diagnosis of Moebius Syndrome (Pattern 4, n = 10, 26%). One subject was too severely affected to characterize. Abnormal vertical smooth pursuit was present in 17 (57%) of 30 subjects: nine with Pattern 1, five with Pattern 2, and three with Pattern 4. Abnormal vertical saccades were present in 10 (34%) of 29 subjects. Vertical saccades appeared slow in nine: six with Pattern 1 and three with Pattern 2. Vertical saccades were absent in one subject with Pattern 2. Abnormal vertical optokinetic nystagmus was present in 19 (68%) of 28 subjects: 10 with Pattern 1, six with Pattern 2, one with Pattern 3, and two with Pattern 4. Reduced convergence was present in 19 (66%) of 29 subjects: nine with Pattern 1, six with Pattern 2, one with Pattern 3, and three with Pattern 4. The most common pattern of ocular motor deficit in Moebius Syndrome is bilateral horizontal gaze palsy from pontine abducens nuclear defects, rather than abducens nerve involvement. Defects in the range or dynamic properties of vertical movements in subjects with congenital facial weakness may suggest involvement of ocular motor structures in the midbrain, including oculomotor nerves or nuclei, vertical supranuclear saccadic centres, and convergence neurons. Such deficits were found even in subjects with full vertical motility range. Classification of patterns of ocular motor deficits in congenital facial weakness may assist with further delineation of anatomic localization and identification of genetic deficits underlying these disorders.
Ethylin Wang Jabs - One of the best experts on this subject based on the ideXlab platform.
-
differentiating Moebius Syndrome and other congenital facial weakness disorders with electrodiagnostic studies
Muscle & Nerve, 2021Co-Authors: Tanya Lehky, Ethylin Wang Jabs, Bryn D. Webb, Flavia M Facio, Reversa Joseph, Camilo Toro, Carol Van Ryzin, Andrea L Gropman, Brenda S BarryAbstract: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 (MBS) is one type of CFW. This study explored the utility of electrodiagnostic studies (EDX) in the evaluation of individuals with CFW. Methods Forty-three subjects enrolled prospectively into a dedicated clinical protocol and had EDX evaluations, including blink reflex, facial and peripheral nerve conduction studies, with optional needle electromyography. Results MBS and hereditary congenital facial paresis (HCFP) subjects had low amplitude CN7 responses without other neuropathic or myopathic findings. Carriers of specific pathogenic variants in TUBB3 had, in addition, a generalized sensorimotor axonal polyneuropathy with demyelinating features. Myopathic findings were detected in individuals with Carey-Fineman-Ziter Syndrome, myotonic dystrophy, other undefined myopathies or CFW with arthrogryposis, ophthalmoplegia and other system involvement. Discussion EDX in CFW subjects can assist in characterizing the underlying pathogenesis, as well as guide diagnosis and genetic counseling. This article is protected by copyright. All rights reserved.
-
Case Reports Mirror Movements Identified in Patients with Moebius Syndrome
2015Co-Authors: Bryn D. Webb, Tamiesha Frempong, Ethylin Wang Jabs, Harald Gaspar, Thomas P Naidich, Janet C RuckerAbstract:Background: Moebius Syndrome is a rare disorder with minimum clinical criteria of congenital facial weakness in association with impairment in abduction of one or both eyes. Mirror movements are not known to be associated with Moebius Syndrome. Case Report: We present three patients who meet minimum criteria for a diagnosis of Moebius Syndrome and who also display mirror movements. Discussion: This case series suggests that Moebius Syndrome may be associated with mirror movements. Further investigation to delineate the genetic etiologies of Moebius Syndrome is ongoing. Patients with Moebius Syndrome and mirror movements may represent a specific subclass of this disorder
-
characterization of ocular motor deficits in congenital facial weakness Moebius and related Syndromes
Brain, 2014Co-Authors: Janet C Rucker, Tamiesha Frempong, Bryn D. Webb, Harald Gaspar, Thomas P Naidich, Ethylin Wang JabsAbstract:Congenital facial weakness is present in a heterogeneous group of conditions. Among them is Moebius Syndrome, which has been defined as a disorder with congenital, non-progressive facial weakness and limited abduction of one or both eyes. It is typically attributed to agenesis of the abducens and facial cranial nerves. This paper details ocular motor findings of 40 subjects (23 months to 64 years; 24 females, 16 males) with congenital facial weakness: 38 presented at a Moebius Syndrome Conference and two were clinic patients. A new classification scheme of patterns based on ocular motor phenotype is presented. Of 40 subjects, 37 had bilateral and three had unilateral facial weakness. The most common ocular motor pattern (Pattern 1, n = 17, 43%) was bilateral horizontal gaze palsy with intact vertical range. Pattern 2 (n = 10, 26%) was bilateral horizontal gaze palsy with variable vertical limitations. Pattern 3, which was rare, was isolated abduction deficits (n = 2, 5%). Others had full motility range and did not meet minimal criteria for the diagnosis of Moebius Syndrome (Pattern 4, n = 10, 26%). One subject was too severely affected to characterize. Abnormal vertical smooth pursuit was present in 17 (57%) of 30 subjects: nine with Pattern 1, five with Pattern 2, and three with Pattern 4. Abnormal vertical saccades were present in 10 (34%) of 29 subjects. Vertical saccades appeared slow in nine: six with Pattern 1 and three with Pattern 2. Vertical saccades were absent in one subject with Pattern 2. Abnormal vertical optokinetic nystagmus was present in 19 (68%) of 28 subjects: 10 with Pattern 1, six with Pattern 2, one with Pattern 3, and two with Pattern 4. Reduced convergence was present in 19 (66%) of 29 subjects: nine with Pattern 1, six with Pattern 2, one with Pattern 3, and three with Pattern 4. The most common pattern of ocular motor deficit in Moebius Syndrome is bilateral horizontal gaze palsy from pontine abducens nuclear defects, rather than abducens nerve involvement. Defects in the range or dynamic properties of vertical movements in subjects with congenital facial weakness may suggest involvement of ocular motor structures in the midbrain, including oculomotor nerves or nuclei, vertical supranuclear saccadic centres, and convergence neurons. Such deficits were found even in subjects with full vertical motility range. Classification of patterns of ocular motor deficits in congenital facial weakness may assist with further delineation of anatomic localization and identification of genetic deficits underlying these disorders.