Related Experiment Video

Updated: Jun 15, 2026

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

8.7K

Further clinical delineation of microcephaly-capillary malformation syndrome

Julianne K Postma1, Jessica L Zambonin2, Ebtissal Khouj3

  • 1Department of Medical Genetics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, Ontario, Canada.

American Journal of Medical Genetics. Part A
|August 13, 2022
PubMed

Insights

Microcephaly-Capillary Malformation syndrome (MIC-CAP) is a rare genetic disorder. This study expands knowledge on its variable clinical spectrum, medical complications, and genetic variants in six patients.

Area of Science:

  • Genetics and rare diseases research.
  • Clinical neurology and developmental pediatrics.

Background:

  • Microcephaly-Capillary Malformation syndrome (MIC-CAP) is a rare genetic disorder with limited documented cases and natural history data.
  • Previous reports describe key features including microcephaly, capillary malformations, seizures, neurological impairment, and developmental delay.

Observation:

  • This report details follow-up on two previously described patients and introduces four new individuals with MIC-CAP.
  • The cohort exhibits significant variability in clinical presentation, expanding the known spectrum of the syndrome.

Findings:

  • Novel information regarding specific medical complications associated with MIC-CAP is presented.
  • Recurrent genetic variants contributing to the syndrome are identified, offering insights into genotype-phenotype correlations.

Implications:

  • This study enhances understanding of MIC-CAP's natural history and long-term outcomes.
  • Findings will aid in improved diagnosis, patient management, and genetic counseling for families affected by MIC-CAP.
Keywords:
MIC-CAPSTAMBPclinical spectrummicrocephaly-capillary malformation syndromerecurrent variants

More Related Videos

Induction and Micro-CT Imaging of Cerebral Cavernous Malformations in Mouse Model05:12

Induction and Micro-CT Imaging of Cerebral Cavernous Malformations in Mouse Model

Published on: September 4, 2017

11.0K
A Visual Description of the Dissection of the Cerebral Surface Vasculature and Associated Meninges and the Choroid Plexus from Rat Brain12:31

A Visual Description of the Dissection of the Cerebral Surface Vasculature and Associated Meninges and the Choroid Plexus from Rat Brain

Published on: November 14, 2012

48.7K

Related Concept Videos

Cerebral Edema ll: Pathophysiology01:22

Cerebral Edema ll: Pathophysiology

Vasogenic edema is a major form of cerebral edema characterized by abnormal accumulation of fluid in the brain’s extracellular space due to disruption of the blood–brain barrier (BBB). The BBB is a specialized structure composed of endothelial cells connected by tight junctions, supported by astrocytic endfeet and a basement membrane. Under normal conditions, it tightly regulates the movement of ions, proteins, and solutes between the bloodstream and brain parenchyma. When this barrier loses...
Aneurysm II: Clinical Manifestations and Diagnostic Studies01:21

Aneurysm II: Clinical Manifestations and Diagnostic Studies

Thoracic, aortic arch and abdominal aneurysms are significant vascular conditions that can present with various clinical manifestations and lead to serious complications. Understanding these manifestations and the appropriate diagnostic studies is essential for effective management and treatment.Thoracic Aortic AneurysmsThoracic aortic aneurysms often remain asymptomatic until they reach a size that impinges on adjacent structures. They typically cause deep, diffuse chest pain that radiates to...