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Craniosynostosis in a patient with 2q37.3 deletion 5q34 duplication: Association of extra copy of MSX2 with craniosynostosis
American Journal of Medical Genetics, 06/22/09

Kariminejad A et al. - The authors report on a 1-year-old boy with craniosynostosis, microcephaly, developmental delay and dysmorphic features. Chromosomal studies of the proband showed 46,XY,add(2)(q37)dn and those of the parents were normal. Recently it has been proposed that an extra copy of MSX2 that maps to 5q35.2 causes premature synostosis of the sutures via the MSX2-mediated pathway of calvarial osteogenic differentiation.

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