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We found that Wnt4 expression in chondrogenic tissues alters skeletogenesis, resulting in skull abnormalities and dwarfism.
Our patient has pronounced skull abnormalities, however, craniosynostosis is uncertain.
It should be noted that our patient despite the presence of skull abnormalities had a microcephaly.
The skull abnormalities may represent irregular calcification, with natal teeth appearing because the bone of the mandible is penetrated more easily than usual.
In Fgfr2 +/P253R mice or Fgfr2 +/Y394C mice mimicking human BSS (also characterized by skull abnormalities), the premature fusion of coronal suture is associated with enhanced osteoblast differentiation similar to Fgfr2 +/S252Wmice.
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Instead of the term "meningoencephalocele," which indicates the herniation of brain and/or meningeal tissue through a bone defect, the term "closed cephalocele" has been proposed to describe this skull abnormality because the protrusion of intracranial structures occurs without a detectable bone defect.
Conclusion: Congenital midline nasal anomalies are rare lesions with the potential for intracranial extension and anterior skull base abnormalities.
The doctor may want to get "a head" of the issue and first rule out other causes such as skull growth abnormalities, which can lead to congenital plagiocephaly.
Posterior fossa lesions, including ipsilateral cerebellopontine angle arteriovenous malformations, brainstem cavernous haemangioma and base of skull bony abnormalities have been described anecdotally to be associated with SUNCT.
One of the most studied of these conditions is a form of dwarfism called achondroplasia, but the list also includes neurofibromatosis, the connective-tissues disorder Marfan syndrome, skull and facial abnormalities like Apert syndrome, and many other diseases and abnormalities.
The results provide important information for the management of strabismus in children with and without skull or orbital abnormalities.
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com