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Craniosynostosis in Pycnodysostosis: Broadening the Spectrum of the Cranial Flat Bone Abnormalities
(WILEY-LISS, 2010)
Pycnodysostosis is a rare autosomal recessive skeletal dysplasia caused by the absence of active cathepsin K, which is a lysosomal cysteine protease that plays a role in degrading the organic matrix of bones, acting in ...
Comparison of periodontal parameters in individuals with syndromic craniosynostosis
(Faculdade De Odontologia De Bauru - USP, 2009)
Craniosynostosis syndromes are characterized by premature closure of one or more cranial sutures, associated with other malformations, the most frequent of which are the Crouzon and Apert syndromes. Few studies in the ...
Clinical findings in four Brazilian families affected by Saethre-Chotzen syndrome without TWIST mutations
(Alliance Communications Group Division Allen PressLawrenceEUA, 2004)
Molecular screening for microdeletions at 9p22-p24 and 11q23-q24 in a large cohort of patients with trigonocephaly
(Blackwell MunksgaardFrederiksberg CDinamarca, 2005)
MICHELS SYNDROME IN A BRAZILIAN GIRL BORN TO CONSANGUINEOUS PARENTS
(Wiley-Blackwell, 1995-07-03)
We report on a Brazilian girl born to consanguineous parents and presenting with craniosynostosis, telecanthus, blepharophimosis, blepharoptosis, epicanthus inversus, cleft lip and palate, skeletal defects, and hearing ...
Q289P mutation in FGFR2 gene causes Saethre-Chotzen syndrome: Some considerations about familial heterogeneity
(Alliance Communications Group Division Allen PressLawrenceEUA, 2006)
KRAS gene mutations in Noonan syndrome familial cases cluster in the vicinity of the switch II region of the G-domain: Report of another family with metopic craniosynostosis
(WILEY-BLACKWELLMALDEN, 2012)
Noonan syndrome (NS) and Noonan-related disorders [cardio-facio-cutaneous (CFC), Costello, Noonan syndrome with multiple lentigines (NS-ML), and neurofibromatosis-Noonan syndromes (NFNS)] are a group of developmental ...
Gradual bone distraction in craniosynostosis - Preliminary results in seven cases
(Scandinavian University PressOsloNoruega, 1997)
Apert Syndrome: Report of a Case With Emphasis on Craniofacial and Genetic Features
(Amer Acad Pediatric DentistryChicagoEUA, 2008)
Syndromic craniosynostosis: neuropsycholinguistic abilities and imaging analysis of the central nervous system
(Assoc Arquivos Neuro- Psiquiatria, 2017-12-01)
Objective: To characterize patients with syndromic craniosynostosis with respect to their neuropsycholinguistic abilities and to present these findings together with the brain abnormalities. Methods: Eighteen patients with ...