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

Two cases further delineating the Sakoda complex.

Melissa A Dempsey1, Wilfredo Torres-Martinez, Laurence E Walsh

  • 1Department of Human Genetics, The University of Chicago, Chicago, Illinois, USA. mdempsey@bsd.uchicago.edu

American Journal of Medical Genetics. Part A
|January 30, 2007
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

Recurrent Autoimmune Encephalitis in a Patient With Autoimmune Polyendocrine Syndrome Type 1.

Case reports in critical care·2026
Same author

Participant-reported personal utility of genetic testing for Parkinson's disease and interest in clinical trial participation.

NPJ Parkinson's disease·2024
Same author

Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies.

NPJ genomic medicine·2024
Same author

Readiness for Parkinson's disease genetic testing and counseling in patients and their relatives in urban settings in the Dominican Republic.

NPJ Parkinson's disease·2023
Same author

Mode of delivery preference in prenatal genetic counseling between English- and Spanish-speaking patients at two US medical institutions.

Journal of genetic counseling·2023
Same author

Genotype-Phenotype Correlation of Distal 2q37 Deletions.

Cytogenetic and genome research·2022
Same journal

How does Léri-Weill Dyschondrosteosis Affect Adults' Health-Related Quality of Life? - A Norwegian Cross-Sectional Study Exploring the Physical and Mental Burden.

American journal of medical genetics. Part A·2026
Same journal

Re-Identification of the Panamanian Guna/Kuna/Cuna OCA2 Founder Association Through Two American-Born Siblings.

American journal of medical genetics. Part A·2026
Same journal

Biallelic Variant in HAPLN1 is Associated With Skeletal Dysplasia With or Without Congenital Heart Disease.

American journal of medical genetics. Part A·2026
Same journal

MYH11-Related Hereditary Type 2 Visceral Myopathy in a Large Kindred: Diagnostic Odyssey With Milder Clinical Manifestations.

American journal of medical genetics. Part A·2026
Same journal

Positron Emission Tomography (PET) in Phenylketonuria: A Systematic Review of Brain Metabolism Beyond Phenylalanine.

American journal of medical genetics. Part A·2026
Same journal

Re: "Clinical Insights From a Case of Sifrim-Hitz-Weiss Syndrome With a CHD4 Variant: Expanding the Phenotypic Spectrum and Its Response to Growth Hormone Therapy".

American journal of medical genetics. Part A·2026
See all related articles

Sakoda complex, a rare condition, involves brain abnormalities and facial clefts. This study presents two new cases, suggesting both genetic and vascular factors contribute to its varied symptoms.

Area of Science:

  • Neuroscience
  • Medical Genetics
  • Developmental Biology

Background:

  • Sakoda complex is characterized by sphenoethmoidal encephalomeningocele, agenesis of the corpus callosum, and cleft lip/palate.
  • Associated anomalies include optic disc dysplasia, microphthalmia, cortical dysgenesis, intellectual disability, and epilepsy.
  • The precise etiology of Sakoda complex remains largely unknown.

Observation:

  • Two patients with Sakoda complex anomalies, including sphenoethmoidal encephalomeningocele and cleft palate, are described.
  • Patient 1 exhibited right microphthalmia, optic nerve hypoplasia, pachygyria, ventricular asymmetry, atrial septal defect, hemivertebrae, and renal abnormalities.
  • Patient 2 presented with right microphthalmia, absence of the right cerebral hemisphere, and a right bifid thumb.

Findings:

Related Experiment Videos

  • The observed features in these patients overlap with frontonasal dysplasia and morning glory syndrome, indicating potential shared pathogenic pathways.
  • The findings suggest a probable genetic basis for the primary malformation in Sakoda complex.
  • The right hemispheric defect in Patient 2 points towards a possible role for vascular disruption in some cases.

Implications:

  • Understanding the diverse etiology of Sakoda complex is crucial for accurate diagnosis and genetic counseling.
  • Further research into shared mechanisms with related syndromes may elucidate the pathogenesis of Sakoda complex.
  • Recognition of potential vascular involvement broadens the diagnostic considerations for Sakoda complex and associated neurodevelopmental disorders.