WOS

Permanent URI for this collectionhttps://hdl.handle.net/11443/932

Browse

Subject: search.filters.subject.Craniosynostosis

Search Results

Now showing 1 - 2 of 2
  • Thumbnail Image
    Item
    Cathepsin K analysis in a pycnodysostosis cohort: demographic, genotypic and phenotypic features
    (BIOMED CENTRAL LTD, 2014-01-01) Arman, Ahmet; Bereket, Abdullah; Coker, Ajda; Kiper, Pelin Ozlem Simsek; Guran, Tulay; Ozkan, Behzat; Atay, Zeynep; Akcay, Teoman; Haliloglu, Belma; Boduroglu, Koray; Alanay, Yasemin; Turan, Serap
    Background: To characterize cathepsin K (CTSK) mutations in a group of patients with pycnodysostosis, who presented with either short stature or atypical fractures to pediatric endocrinology or dysmorphic features to pediatric genetics clinics. Methods: Seven exons and exon/intron boundaries of CTSK gene for the children and their families were amplified with PCR and sequenced. Sixteen patients from 14 families with pycnodysostosis, presenting with typical dysmorphic features, short stature, frequent fractures and osteosclerosis, were included in the study. Results: We identified five missense mutations (M1I, I249T, L7P, D80Y and D169N), one nonsense mutation (R312X) and one 301 bp insertion in intron 7, which is revealed as Alu sequence
  • Thumbnail Image
    Item
    Concurrent Repair of Orbital Shallowness with Craniosynostosis Surgery: Two Late Cases of Simultaneous Orbital Decompression
    (TURKISH NEUROSURGICAL SOC, 2013-01-01) Oreroglu, Ali Riza; Silav, Gokalp; Ozkaya, Ozay; Orman, Cagdas; Akan, Mithat
    Early closure of cranial sutures results in various types of cranial vault deformities, named craniosynostosis. Although mostly associated with syndromic cases, bony orbit deformities such as exorbitism can be seen with various types of craniosynostosis. This condition can be associated with papilledema and besides its effect on the patient's appearance can cause subluxation of the globe, lagophthalmos or keratitis resulting in corneal ulcers and ultimately loss of vision. Various techniques have been proposed for repair or exorbitism such as fronto-orbital advancement procedures, orbital wall decompression, periosteum scoring and tissue excision. Orbital periosteal scoring covering the globe can be extremely efficient for orbital fat decompression when combined with other orbital volume expanding procedures. We hereby present two late cases of craniosynostosis associated with bilateral exorbitism due to orbital shallowness for which cranial vault reconstruction was performed simultaneously with combinations of fronto-orbital advancement, orbital decompression and periosteal scoring. The late referral of these patients at ages older than the usual time of operation indication made the surgical procedure for craniosynostosis repair and exorbitism treatment challenging. The combined and simultaneous use of bone advancement, orbital wall decompression and specially periosteum scoring can be highly efficient in the treatment of exorbitism associated with craniosynostosis.