Related Experiment Video

Updated: May 7, 2026

Midface Hypoplasia and Cranial Base Morphology in Syndromic Craniosynostosis: A Comparative Analysis Study Using a Predictive Regression Model
08:03

Midface Hypoplasia and Cranial Base Morphology in Syndromic Craniosynostosis: A Comparative Analysis Study Using a Predictive Regression Model

Published on: November 4, 2025

Study of environmental and genetic factors in children with craniosynostosis: A case-control study

Mayadhar Barik1, Minu Bajpai, Rashmi Ranjan Das

  • 1Department of Pediatric Surgery, All India Institute of Medical Sciences, New Delhi, India.

Journal of Pediatric Neurosciences
|October 2, 2013
PubMed

Insights

Advanced paternal age and higher parental education are linked to increased craniosynostosis risk in India. This study also identified novel FGFR2 gene mutations in affected infants, providing new insights into the condition.

Area of Science:

  • Pediatric Surgery
  • Medical Genetics
  • Epidemiology

Background:

  • Craniosynostosis is a congenital skull defect where sutures close prematurely.
  • Genetic and environmental factors contribute to craniosynostosis pathogenesis.
  • Limited Indian data exists on craniosynostosis risk factors.

Purpose of the Study:

  • To investigate the association between craniosynostosis and parental factors in North India.
  • To identify potential genetic mutations in Indian craniosynostosis cases.

Main Methods:

  • A case-control study involving 50 infants with craniosynostosis.
  • Analysis of parental age and education status.
  • Molecular analysis (sequencing) of the FGFR2 gene.

Main Results:

  • Significant association found between craniosynostosis and advanced paternal age (OR 2.17).
  • Higher parental education levels correlated with increased risk (maternal OR 2.32, paternal OR 2.51).
  • Novel FGFR2 gene mutations identified in both syndromic and non-syndromic cases.

Conclusions:

  • This is the first Indian study suggesting advanced paternal age and higher parental education as risk factors for craniosynostosis.
  • New FGFR2 gene mutations were discovered in syndromic and non-syndromic craniosynostosis.
  • Findings highlight the need for further research into craniosynostosis etiology in the Indian population.
Abstract

Keywords:
Case-control studycraniosynostosisfibroblast growth factor receptorpediatric

More Related Videos

Three-Dimensional Cephalometric Landmark Annotation Demonstration on Human Cone Beam Computed Tomography Scans10:23

Three-Dimensional Cephalometric Landmark Annotation Demonstration on Human Cone Beam Computed Tomography Scans

Published on: September 8, 2023

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations08:22

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

Related Concept Videos

Behavioral Genetics and Its Designs01:23

Behavioral Genetics and Its Designs

Behavior genetics explores how genetic inheritance influences human behavior. It focuses on how genes, passed from parents to offspring, contribute to the development of behavioral traits and tendencies. This branch of genetics seeks to understand the complex interplay between inherited genetic factors and environmental influences in shaping our behaviors.
The primary methodologies used in behavior genetics include family studies, twin studies, and adoption studies, each providing unique...
Case Studies01:22

Case Studies

There are many research methods available to psychologists in their efforts to understand, describe, and explain behavior and the cognitive and biological processes that underlie it.
Gene-Environment Interactions01:20

Gene-Environment Interactions

Gene expression is a dynamic process that is significantly influenced by environmental factors. This interaction underlies the complex nature of biological development and the phenotypic differences observed among individuals, even among those with identical genetic makeups. Factors such as radiation, temperature, behavior, nutrition, and stress play pivotal roles in determining how genes are expressed. The concept of the reaction range is central to understanding this interaction. It posits...
Human Genetics01:28

Human Genetics

Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
Biological Causes of Schizophrenia01:29

Biological Causes of Schizophrenia

Schizophrenia, a severe psychiatric disorder, arises from a complex interplay of biological factors, including genetic predisposition, structural brain abnormalities, neurotransmitter dysregulation, and developmental irregularities. These factors collectively contribute to the onset and progression of the disorder, which typically manifests in late adolescence or early adulthood.
Genetic Factors in Schizophrenia
The genetic basis of schizophrenia is strongly supported by family and twin studies.
Sutures of the Skull01:22

Sutures of the Skull

The human skull is composed of several bones that come together to protect the brain and support the structures of the face. The junctions where these bones meet are called sutures.
Sutures are immobile joints between adjacent bones of the skull. The narrow gap between the bones is filled with dense, fibrous connective tissue that unites the bones. The long sutures located between the skull bones are not straight but instead follow irregular, tightly twisting paths. These twisting lines tightly...