Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Expanded Möbius syndrome.

D Peleg1, G M Nelson, R A Williamson

  • 1Department of Obstetrics and Gynecology, The University of Iowa, Iowa City, Iowa, USA.

Pediatric Neurology
|May 30, 2001
PubMed
Summary
This summary is machine-generated.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Correlation between changes in liver stiffness and preeclampsia as shown by transient elastography.

Hypertension in pregnancy·2016
Same author

Success rates for product development strategies in new drug development.

Journal of clinical pharmacy and therapeutics·2016
Same author

Structure, phases, and mechanical response of Ti-alloy bioactive glass composite coatings.

Materials science & engineering. C, Materials for biological applications·2014
Same author

Perception of epistemic authorities by children and adolescents.

Journal of youth and adolescence·2013
Same author

Expression of endothelial nitric oxide synthase protein is not necessary for mechanical strain-induced nitric oxide production by cultured osteoblasts.

Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA·2012
Same author

Surgical management of bisphosphonate induced osteonecrosis of the jaws.

International journal of oral and maxillofacial surgery·2009
Same journal

Corrigendum to Temporary Pacemaker in a Pediatric Guillain-Barré Case With Life-Threatening Bradyarrhythmia Pediatr Neurol 177 (2026) 109-110. doi: 10.1016/j.pediatrneurol.2026.01.015.

Pediatric neurology·2026
Same journal

Clinical Symptoms in Late Infantile and Juvenile Onset Neuronal Ceroid Lipofuscinosis Type 7 (CLN7 Disease).

Pediatric neurology·2026
Same journal

Examining Epilepsy in Angelman Syndrome: Insights From Caregiver-Reported Data in the Linking Angelman and Dup15q Data for Expanded Research Database.

Pediatric neurology·2026
Same journal

Impact of Postpandemic Pediatric Infection Rebound on Febrile Seizures: A Nationwide Cohort Study, 2013-2023.

Pediatric neurology·2026
Same journal

The Hidden Cost of Developmental and Epileptic Encephalopathy in Australia: Caregiver Quality of Life, Sleep, Depression, and Workforce Participation.

Pediatric neurology·2026
Same journal

A Novel Neonatal Brain Injury Score for Infants With Congenital Diaphragmatic Hernia.

Pediatric neurology·2026
See all related articles

This case study highlights an infant with a rare congenital disorder, expanded Möbius syndrome, presenting with fetal anomalies and neurological deficits. Postmortem findings confirmed the diagnosis, offering insights into this severe neurological condition.

Area of Science:

  • Neurology
  • Pediatrics
  • Genetics

Background:

  • Möbius syndrome is a rare congenital neurological disorder characterized by facial paralysis and abnormal eye movements.
  • Expanded forms of Möbius syndrome involve additional cranial nerve deficits and central nervous system abnormalities.

Observation:

  • A 33-week gestation fetus presented with reduced fetal movements and a unilateral arm tremor.
  • The neonate required intubation for respiratory support and exhibited fluctuating muscle tone (hypertonia then hypotonia).

Findings:

  • Postmortem examination revealed bilateral brain gliosis, mineralization, and partial/total absence of cranial nerve nuclei and roots (III-XI).
  • These neuropathological findings are consistent with an expanded Möbius syndrome diagnosis.
  • Exclusion of aneuploidy, metabolic disorders, and infection ruled out other potential causes.

Related Experiment Videos

Implications:

  • This case expands the understanding of phenotypic variability in expanded Möbius syndrome.
  • Highlights the importance of comprehensive postmortem examination for diagnosing rare congenital neurological disorders.
  • Suggests potential genetic or developmental pathways underlying severe cranial nerve and brain malformations.