Now showing items 1-10 of 123
Craniosynostosis: prenatal diagnosis by 2D/3D ultrasound, magnetic resonance imaging and computed tomography
(Soc Romana Ultrasonografe Medicina Biologie-Srumb, 2016)
Craniosynostosis is defined as the process of premature fusion of one or more of the cranial sutures. It is a common condition that occurs in about 1 to 2,000 live births. Craniosynostosis may be classified in primary or ...
Craniosynostosis in Pycnodysostosis: Broadening the Spectrum of the Cranial Flat Bone Abnormalities
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 ...
RAF1 variant in a patient with Noonan syndrome with multiple lentigines and craniosynostosis
(Wiley-Liss Inc., 2019)
We report the case of a 14 years and 8 months girl, who is the first child of nonconsanguineous parents, with short stature, obstructive hypertrophic cardiomyopathy, multiple facial lentigines, high and wide forehead, ...
The 'brain shadowing sign': a novel marker of fetal craniosynostosis
(Bmj Publishing Group, 2016)
Introduction: The prenatal diagnosis of fetal craniosynostosis is challenging, especially in single-suture cases. When sutures are obliterated, sound waves fail to penetrate the cortical bone, creating an evident acoustic ...
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
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 ...