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11  Articles
1 of 2 pages  |  10  records  |  more records»
Background: Treacher Collins Syndrome (TCS) is a craniofacial disorder that has a dominant autosomal disorder in facial development, found 1 in every 50.000 births. The most often manifestations could be mandibulofacial disorder, microtia, atresia of the ... see more

Turner syndrome is a genetic disorder which characterized by specific physical appearance and the lost of one of sex chromosome in females. The most frequent chromosome constitution in Turner syndrome is 45X. This disorder may cause an interruption of gro... see more

The Moebius syndrome or sequence of Moebius (MS), a rare, non-progressive congenital disorder of varying severity, its main manifestation unilateral or bilateral paralysis of the facial nerve, which gives inactivity of the muscles of facial expression for... see more

Recurrent deletions of the chromosomal region 15q24 have recently been identified as the underlying cause of a novel microdeletion syndrome. A recent study comparing patients with 15q24 deletions of variable size defined a minimum critical deletion region... see more

Complex chromosome rearrangements (CCR’s) involving multiple breaks in two or more chromosomes are rare. The precise characterization of a CCR is difficult and may be inaccurate even by using molecular cytogenetic techniques. Various new molecular techniq... see more

Juvenile Rheumatoid Arthritis (JRA) is a systemic disease on childhood, which has chronic arthritis as its most prominent manifestation. One very common complication of JRA is growth disturbance. JRA involving temporomandibular joint usually result in man... see more

A case of congenital micrognathia and microglossia was observed between the ages of 6.5 and 8 years in a boy patient. The lower arch was extremely narrow and the tongue was extremely thin, small, and smooth. Speech disorder, absence of 13, 23, 32, 42, and... see more

Pierre Robin sequence is a set of congenital conditions characterized by the presence of micrognathia, glossoptosis, cleft palate and obstruction of the airways. The latter can lead to many other complications such as respiratory difficulties, apnea, weig... see more

The “floppy infant” is a well-recognized entity characterized by general­ized hypotonia presenting at birth or in early life. Hypotonia represents a diagnostic challenge because it may be the presentation sign of numerous diseases, as central or periphera... see more

1 of 2 pages  |  10  records  |  more records»