Poland-Mobius Syndrome With Unilateral Vocal Cord Paralysis in a Neonate

Yadav, Priyanka; Utture, Alpana; Dande, Vaidehi; Bodhanwala, Minnie; Agarwal, Ankit

doi:10.7759/cureus.10215

Cited by 3 publications

(2 citation statements)

References 17 publications

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“…Other limb defects included bilateral talipes equinovarus (1/5) and hypoplastic metatarsals (1/5). Axial malformations in MBS can include chest wall defects such as Poland syndrome, scapular or rib defects, and congenital spinal defects such as Klippel‐Feil syndrome 18 . One of our MBS patients (case 5) developed severe scoliosis.…”

Section: Discussionmentioning

confidence: 92%

Echoencephalography of Möbius sequence: A congenital cranial dysinnervation disorder with brainstem calcifications

Rawhani

Sharma

Maertens

2022

Journal of Neuroimaging

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Background and Purpose Möbius sequence (MBS) previously known as Möbius syndrome is a rare nonprogressive developmental defect of the rhombencephalon leading to congenital abducens (VIth) and facial (VIIth) nerve palsy. Echoencephalography is the first, safe, noninvasive, and cost‐effective imaging modality available at bedside. No study on the use of echoencephalography in neonates for the diagnosis of MBS has been previously reported. Methods In this single tertiary center study, more than 18,000 neonates underwent echoencephalographic imaging over the span of two decades. Imaging was performed through the anterior, posterior, and lambdoid fontanelles. All neonates found to have calcifications of brainstem tegmental nuclei underwent additional imaging studies. Each neonate with MBS was carefully examined by the same investigator. Results Five neonates were shown to have punctate, bilateral, symmetrical tegmental pontine calcifications through all three acoustic windows. These calcifications extended caudally in most patients, and rostrally in 2 patients. Brainstem hypoplasia was best seen through the posterior fontanelle. Three out of five infants were noted to have brainstem hypoplasia with straightening of the floor of the fourth ventricle. In two children, facial collicular bulges and hypoglossal eminences were present. All five infants fulfilled clinical diagnostic criteria of MBS. In addition, a wide array of cerebral defects is identified. Echoencephalographic findings were confirmed by other imaging modalities. Conclusion Knowledge of echoencephalographic features of MBS should improve its early recognition. A detailed description of the various imaging phenotypes of MBS is necessary to characterize the etiology of this heterogeneous congenital cranial dysinnervation disorder.

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Section: Discussionmentioning

confidence: 92%

Echoencephalography of Möbius sequence: A congenital cranial dysinnervation disorder with brainstem calcifications

Rawhani

Sharma

Maertens

2022

Journal of Neuroimaging

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“…En relación con los defectos de la caja torácica, debe evaluarse la presencia de agenesia de reja costal. Se recomienda la realización de resonancia magnética para evaluación de sistema nervioso central, dado que se ha asociado la hipoplasia de tronco encefálico en 32 % de los casos y convulsiones en el 26 % sin embargo estas alteraciones o se consideran directamente consecuencias de esta secuencia (6,7,8,10).…”

Section: Discussionunclassified

Secuencia de Moebius-Poland

Urbina Villarraga,

Cañas Cantillo,

Quiroga Rey

et al. 2022

Pediatria.

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Antecedentes: la secuencia Moebius Poland, definida por la presencia conjunta de parálisis facial uni o bilateral, agenesia o hipoplasia del pectoral mayor y pezón, además de simbraquidactilia ipsilateral a la lesión del pectoral, es muy infrecuente. El último reporte en Colombia reportado en la literatura local fue de 2012 en la ciudad de Barranquilla, Colombia. Reporte de caso: Recién nacido masculino, embarazo con control prenatal irregular de inicio tardío. La madre niega consumo de fármacos o drogas psicoactivas. Las ecografías prenatales no reportaron deformidades o malformaciones, sin antecedente de infecciones perinatales. Parto espontáneo, eutócico, sin complicaciones, adecuada adaptación neonatal. Se aprecia parálisis facial y defecto de pared torácica. Conclusiones: Por tratarse de una condición de baja frecuencia se presenta el reporte de caso. La importancia de un diagnóstico temprano permite definir lesiones o malformaciones asociadas e intervención oportuna para definir un plan de tratamiento y rehabilitación temprana.

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Poland–Mebius syndrome: A clinical case and review of the literature

Khodorovskaya,

Agranovich,

Savina

et al. 2024

Pediatr Traum Orthop Reconstr Surg

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BACKGROUND: Currently, the eponym “Poland syndrome” has become a universal term for clinicians for all pectoral muscle developmental disorders with symbrachydactyly and without. Misinterpretation of the diagnosis in patients with pectoral muscle underdevelopment can narrow the diagnostic search, making it difficult to genetically verify the diagnosis. Thus, this study was conducted. CLINICAL CASE: We present the results of our clinical observation of a 17-year-old adolescent with complaints of restricted movement in the joints of the right hand, right shoulder joint, shortening of the right upper extremity, and chest wall deformity. Orthopedic examination and computed tomography indicated the presence of Poland syndrome, severe Sprengel’s deformity (soft tissue form), severe left-sided keel chest deformity, kyphoscoliosis of the thoracic spine, and Scheiermann–Mau disease. The focal neurological symptoms and associated structural and functional changes in the medulla oblongata were characteristic of the extended Mebius syndrome. DISCUSSION: Modern hypotheses of pathogenesis, clinical features, and possibilities of diagnostics of this syndrome are considered. CONCLUSIONS: The variety of clinical manifestations of the Poland–Mebius syndrome and the current lack of clear genetic markers for both the Mebius syndrome and Poland syndrome hindered the establishment of a consensus among researchers, that is, whether the Poland–Mebius syndrome is an independent disease or a group of individual phenotypic features that are components of previously known syndromes. Further molecular genetic studies may provide a basis for the designation of Poland–Mebius syndrome as a separate entity.

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Poland-Mobius Syndrome With Unilateral Vocal Cord Paralysis in a Neonate

Cited by 3 publications

References 17 publications

Echoencephalography of Möbius sequence: A congenital cranial dysinnervation disorder with brainstem calcifications

Echoencephalography of Möbius sequence: A congenital cranial dysinnervation disorder with brainstem calcifications

Secuencia de Moebius-Poland

Poland–Mebius syndrome: A clinical case and review of the literature

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