• Richtsmeier, Joan Therese (PI)
  • Beatty, Terri (PI)
  • Jabs, Ethylin Wang (PI)
  • Jabs, Ethylin (PI)
  • Semenza, Gregg (PI)
  • vander Kolk, Craig (PI)
  • Scott, Alan (PI)

Project: Research project

Project Details


The overall goal of the Center for Craniofacial Development and Disorders
is to increase our knowledge of the normal process of cranial development
and the pathogenesis of craniosynostosis. Craniosynostosis, the
premature fusion of calvarial suture(s) resulting in abnormal skull
shape, is a major health problem. It occurs in 1/3000 newborns of all
ethnic and racial populations, and in moderate to severe cases if
uncorrected, can impede growth of the brain causing secondary neurologic,
respiratory, auditory, and ocular deficits. Little is known at the
molecular level about the formation of the normal cranium and the cause
of over 90 craniosynostotic conditions, of which at least 50 are genetic.
To advance our understanding of this common developmental defect, the
Center will study normal and abnormal cranial development from the
phenotypic to the molecular level using a multidisciplinary and
interactive team approach. The Center is structured with 3 Cores and 5
Projects. The Cores consist of Administrative Core I; Clinical Core II
where over 500 craniosynostotic patients in the greater Baltimore are
will be clinically examined and diagnosed, undergo 3D CT scans and
chromosomal and DNA analyses; and DNA Core III which will perform
oligonucleotide synthesis, polymorphism and mutation analysis, DNA
sequencing, gene mapping, and histologic gene expression studies.
Project I will conduct an epidemiologic study of these patients to
determine environmental and genetic risk factors; Project II will analyze
postnatal cranial development by using data from 3D CT scans from
subgroups of patients with isolated sagittal and isolated coronal
synostosis and compare them to normals; Project III will isolate genes
involved in normal craniofacial development by cDNA subtractive
hybridization, direct selection and exon trapping of the chromosome 7p
region where at least 2 craniosynostotic genes have been identified, and
screening for homologous MSX genes which are involved in calvarial
development; Project IV will isolate the gene responsible for the most
common craniosynostotic genetic syndrome, Saethre-Chotzen, and other
craniosynostotic genes from patients with chromosome del (7p); and
Project V will study the transcriptional characteristics of the MSX gene
and the mechanism by which this mutant gene causes craniosynostosis.
Through these epidemiologic, morphologic, developmental and molecular
studies a better understanding of cranial development and clinical
diagnosis and management of craniosynostosis will be achieved.
Effective start/end date9/30/949/29/95


  • National Institute of Dental and Craniofacial Research

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