نتایج جستجو برای: craniofacial anomaly
تعداد نتایج: 46197 فیلتر نتایج به سال:
BACKGROUND Inactivating mutations in tissue-nonspecific alkaline phosphatase (TNAP) cause hypophosphatasia (HPP), which is commonly characterized by decreased bone mineralization. Infants and mice with HPP can also develop craniosynostosis and craniofacial shape abnormalities, although the mechanism by which TNAP deficiency causes these craniofacial defects is not yet known. Manifestations of H...
Sutures, where neighboring craniofacial bones are separated by undifferentiated mesenchyme, are major growth sites during craniofacial development. Pathologic fusion of bones within sutures occurs in a wide variety of craniosynostosis conditions and can result in dysmorphic craniofacial growth and secondary neurologic deficits. Our knowledge of the genes involved in suture formation is poor. He...
Craniofacial superimposition, although existing for one century, is still a controversial technique within the scientific community. Objective and unbiased validation studies over a significant number of cases are required to establish a more solid picture on the reliability. However, there is lack of protocols and standards in the application of the technique leading to contradictory informati...
Introduction. Burkitt’s lymphoma is a malignant tumor of lymphatic system that originates from B lymphocytes in germinal center of lymph nodes. There may be different clinical types of Burkitt’s lymphoma. Clinical manifestation of disease can involve different localization. Aim. The aim of the study is to present a rare case of a 4.5-year-old patient With Burkitt’s lymphoma of craniofacial loca...
Craniofacial reconstruction aims at estimating the facial outlook associated to an unknown specimen. Craniofacial reconstruction is generally based on the statistical tissue thickness on anthropometric landmarks. However, the features points alone are not enough for realistic reconstruction. So, in our paper, we take advantage of a reference facial model, through measuring the differences betwe...
OBJECTIVE To review the cephalometric studies investigating the craniofacial morphology of the parents of children with cleft lip and/ or palate (CL(P)). METHODS A review of the literature has been conducted using MedLine sources dated 1970-2005. The Cleft Palate-Craniofacial Journal has been searched manually. The reference lists of all previous publications were consulted to identify any pu...
Fibrous dysplasia is a benign bone disease first described by Lichtenstein in 1938. It is characterized by progressive replacement of normal bone with fibro-osseous connective tissue. When the disease involves craniofacial skeleton, it results in significant disfigurement and other functional problems. This paper reports a case of large craniofacial fibrous dysplasia involving zygomaticomaxilla...
Single maxillary central incisor syndrome is a rare alteration in the development and formation of organs located mainly midline; which occurs early between days 35 to 38 intrauterine life. Its etiology unknown, although it has been associated with deletions chromosomes 7 (7q.36.1) 8, mutations Sonic Hedgehog gene. It prevalence 1/50,000 live births anomaly craniofacial development, its diagnos...
BACKGROUND Partial trisomy is often the result of an unbalanced segregation of a parental balanced translocation. Partial trisomy16q is characterized by a common, yet non-specific group of craniofacial dysmorphic features, and systemic malformations with limited post-natal survival. Most of the cases of partial trisomy 16q described in the scientific literature have reported only one, or less f...
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