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. Involvement of other cranial nerves such as three, four, five, nine, 9 and 12, and limb malformations may accompany this syndrome. However, several factors have been proposed for the etiology, some rare cases have also been reported with artificial reproductive technologies. Feeding difficulties and aspiration are the main problems encountered in infancy. The other cranial nerves should be examined further in newborns who present with congenital facial palsy, and other cranial dysinnervation disorders should be considered in the differential diagnosis.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5644584 | PMC |
| http://dx.doi.org/10.5152/TurkPediatriArs.2017.2931 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Progress in MGJWS: A 74-Year Review of Marcus Gunn Jaw-Winking Syndrome.
J Child Neurol
February 2025
Department of Ophthalmology, Shanghai Ninth People's Hospital, Shanghai JiaoTong University School of Medicine, No.639, Zhizaoju Road, Huangpu District, 200011, Shanghai, China.
Article Synopsis
- The text provides a detailed overview of Marcus Gunn jaw-winking syndrome, focusing on its epidemiology, and different possible diagnoses.
- It explores various causes and mechanisms behind the syndrome, including genetic factors and nerve abnormalities.
- Additionally, it reviews clinical symptoms, exceptional case presentations, and treatment options, both surgical and nonsurgical, for Marcus Gunn syndrome and related conditions.
-associated peripheral neuropathy defined by impaired binding with TUBB3.
J Med Genet
January 2025
Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida, USA
encodes a kinesin motor protein associated with isolated congenital fibrosis of the extraocular muscles (CFEOM), which occurs when the autoinhibitory interaction between its motor and third coiled-coil domains is disrupted. In this study, we describe a female child who is heterozygous for a novel de novo missense variant in p.Leu664Pro, located in the second coiled-coil domain that was absent in her unaffected parents and in healthy population cohorts.
View Article and Find Full Text PDFTrigemino-abducens synkinesis: serial review over 4 years.
J AAPOS
December 2024
Department of Ophthalmology, Gold Coast University Hospital, Gold Coast, Queensland; School of Medicine, Bond University, Gold Coast, Queensland, New Zealand.
Congenital cranial dysinnervation disorders involve abberant connections between cranial nerves, often resulting in synkinetic activation of target muscles. Marcus-Gunn jaw winking ptosis and Duane retraction syndrome are some of the more well-known examples of this phenomenon. We present serial video of a child with congenital trigemino-abducens synkinesis, a lesser known congenital cranial dysinnervation disorder, to demonstrate the characteristics of this likely under-diagnosed presentation.
View Article and Find Full Text PDFA cell type-aware framework for nominating non-coding variants in Mendelian regulatory disorders.
Nat Commun
September 2024
Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.
Unsolved Mendelian cases often lack obvious pathogenic coding variants, suggesting potential non-coding etiologies. Here, we present a single cell multi-omic framework integrating embryonic mouse chromatin accessibility, histone modification, and gene expression assays to discover cranial motor neuron (cMN) cis-regulatory elements and subsequently nominate candidate non-coding variants in the congenital cranial dysinnervation disorders (CCDDs), a set of Mendelian disorders altering cMN development. We generate single cell epigenomic profiles for ~86,000 cMNs and related cell types, identifying ~250,000 accessible regulatory elements with cognate gene predictions for ~145,000 putative enhancers.
View Article and Find Full Text PDFGene identification for ocular congenital cranial motor neuron disorders using human sequencing, zebrafish screening, and protein binding microarrays.
bioRxiv
September 2024
F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, USA.
Article Synopsis
- The purpose of the study was to evaluate new human genes and variants related to ocular congenital cranial dysinnervation disorders (oCCDDs) using genetic sequencing methods.
- Researchers prioritized 43 human genes and 57 zebrafish genes through CRISPR/Cas9 knockout assays in zebrafish, ultimately generating mutants for 17 of those genes.
- The study identified three novel genes linked to cranial motor development and demonstrated that certain human gene variants may impair protein function, suggesting they could contribute to oCCDDs.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!