Frontal foramina, chiari II malformation, and hydrocephalus in a female

Reimão, Rubens; Plaggert, Paulo G; Adda, Carla Cristina; Matushita, Hamilton; Reed, Umbertina Conti

doi:10.1016/s0887-8994(03)00279-0

Cited by 2 publications

(1 citation statement)

References 11 publications

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“…Pathological changes in skull development are among the most frequent congenital anomalies associated with live births; thus, calvarial perturbations present a major medical challenge[ 23 ]. Insufficient cranial bone is frequently attributed to brain abnormalities [ 41 , 42 ]; however, in recent years, it has become clear that mutation in a number of key genes can disrupt the progression of the intrinsic ossification programmes. Here, we demonstrate a requirement for Gsk3β in the initiation and expansion of the frontal bone primordium.…”

Section: Discussionmentioning

confidence: 99%

Frontal Bone Insufficiency in Gsk3β Mutant Mice

2016

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The development of the mammalian skull is a complex process that requires multiple tissue interactions and a balance of growth and differentiation. Disrupting this balance can lead to changes in the shape and size of skull bones, which can have serious clinical implications. For example, insufficient ossification of the bony elements leads to enlarged anterior fontanelles and reduced mechanical protection of the brain. In this report, we find that loss of Gsk3β leads to a fully penetrant reduction of frontal bone size and subsequent enlarged frontal fontanelle. In the absence of Gsk3β the frontal bone primordium undergoes increased cell death and reduced proliferation with a concomitant increase in Fgfr2-IIIc and Twist1 expression. This leads to a smaller condensation and premature differentiation. This phenotype appears to be Wnt-independent and is not rescued by decreasing the genetic dose of β-catenin/Ctnnb1. Taken together, our work defines a novel role for Gsk3β in skull development.

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Section: Discussionmentioning

confidence: 99%