Comment. Both MEB disease and Walker-Warburg syndrome have underlying deficiencies in posttranslational glycosylation of -dystroglycan that lead to severe defects in organogenesis and neuronal migration. Brain and eye phenotypes in MEB disease and WalkerWarburg syndrome likely involve defective glycosylation in proteins other than -dystroglycan since chimeric mice deficient in -dystroglycan dev...

CATCH 22 syndrome is characterized by cardiac defects, abnormal facial features, thymic hypoplasia, cleft palate, and hypocalcemia. It is associated with a deletion within chromosome 22q11. This syndrome is not a simple disease. It includes DiGeorge syndrome, conotruncal anomaly face syndrome, and velocardiofacial syndrome. In DiGeorge’s original report, he focused on thymic hypoplasia and hypo...

This paper summarizes and evaluates the oral complications associated with orotracheal intubation in neonates. The palatal defect resulting from orotracheal intubation is best described as palatal grooving, rather than clefting since no oral nasal communication has been demonstrated. Palatal grooving may be caused by the inhibition of the molding tongue forces on the lateral palatine shelves. T...

the main issues in nasal surgery are to stabilize the nose in the good position after surgery and preserve the cartilages and bones in the favorable situation and reduce the risk of deviation recurrence. also it is necessary to avoid the synechia formation, nasal valve narrowing, hematoma and bleeding. due to the above mentioned problems and in order to solve and minimize them nasal packing, na...

We report a study of 55 subjects with Smith-Magenis syndrome, aged 9 months to 35 years. Each person has been evaluated with an assessment of "gestalt" and detailed facial measurement, using previously published methodology, with compilation of Z score pattern profiles. The facial phenotype of SMS is quite distinctive, even in the young child. The overall face shape is broad and square. The bro...

introduction rhinoliths are uncommon nasal masses. they are mineralized masses found within the nasal cavity. they have various clinical presentations. case presentation we report a 13-year-old boy with long-standing nasal obstruction, yellowish nasal discharge and intermittent and minimal nasal bleeding for a few weeks, who had been treated as rhinosinusitis twice. due to the presence of long-...

in crooked noses, the lateral walls are different in shape and symmetry. although the septum is very important to obtain a straight nose, identical and symmetrical lateral walls are needed for a straight looking nasal dorsum. as well as the septum, lateral walls also contribute in nasal skeletal support and stability. thus, obtaining identical and symmetrical lateral walls is important. in orde...

The purpose of this study was to assess the longitudinal relationships between enamel hypoplasia and caries experience of primary second molars. The study sample was 491 subjects who received dental examinations at both age 5 and 9 by the calibrated examiners. Four primary second molars (n = 1,892) were scored for the presence of enamel hypoplasia for each participant. Caries presence and numbe...