نتایج جستجو برای: shprintzen syndrome
تعداد نتایج: 621913 فیلتر نتایج به سال:
• Vol 7 • November 2005 Velocardiofacial Syndrome A 19 month old baby presented with gradually developing respiratory distress and stridor. Episodes of cyanosis during feeding started immediately after birth, accompanied by a weak cry. Fiberoptic pharyngolaryngoscopic examination revealed prominent pulsations along the posterior pharyngeal wall, and severe subglottic stenosis. Computed tomograp...
We report a 13-year-old girl with Loeys-Dietz syndrome (LDS) caused by a known transforming growth factor beta receptor II (TGFBR2) gene mutation, who developed aortic root dilatation and saccular aneurysm of the internal carotid artery. LDS is a rare, autosomal dominant aortic aneurysm syndrome with multisystem involvement. The disease is typically characterized by the triad of arterial tortuo...
Velocardiofacial syndrome, delineated in 1978 by Shprintzen, is a multiple genetic disorder, characterised primarily by cleft palate, cardiovascular anomalies, typical facies, and learning disorders. This syndrome with its recurrent pattern of anomalies has significant implications for education as it is linked to a variety of educationally relevant problems including learning difficulties, beh...
Plagiocephaly is a common condition that affects infants. It can be broadly grouped into positional and non positional plagiocephaly Positional plagiocephaly frequently resolves without intervention. Non positional plagiocephaly resulting from craniosynostosis often requires surgical intervention. In this case report, we present a rare case of unilateral frontosphenoid craniosynostosis. We disc...
Hirschsprung disease (HSCR) is a congenital malformation characterized by the absence of enteric neurons in the distal part of the colon. Several genes have been implicated in the development of this disease that together account for 20% of all cases, implying that other genes are involved. Since HSCR is frequently associated with other congenital malformations, the functional characterization ...
Goldberg-Shprintzen syndrome (GOSHS) is a rare clinical disorder characterized by central and enteric nervous system defects. This syndrome is caused by inactivating mutations in the Kinesin Binding Protein (KBP) gene, which encodes a protein of which the precise function is largely unclear. We show that KBP expression is up-regulated during neuronal development in mouse cortical neurons. Moreo...
There are many version management systems to identify, record, and track the changes of software products. However, most of these systems require engineers to learn how to use these tools; if there are some missoperation, version management could be not established. Some systems employ their proprietary versioning le systems, and engineers do not need to consider how to record the changes. Howe...
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