نتایج جستجو برای: feil syndrome

تعداد نتایج: 622043  

Journal: :Practica oto-rhino-laryngologica. Suppl. 1998

Journal: :Genetics 1979
D J Bond

A chromosome rearrangement has been isolated and characterized in Sordaria brevicollis. Crosses to spore color mutants on each of the seven linkage groups have enabled the breakpoints to be mapped. The simplest hypothesis to account for the results is that a piece of linkage group VI has been translocated to linkage group V and inserted 2.7 map units from its centromere. Previous reports of mar...

Journal: :Journal of Indian Association of Pediatric Surgeons 2019

Journal: :Cureus 2023

Cervical spine assessment is an important step in patients who sustained trauma. Klippel-Feil syndrome (KFS) a complex with abnormal fusion of cervical vertebrae at C2 and C3, which caused by failure the division or normal segmentation early fetal development. This condition leads to characteristic appearance short neck, low hairline, facial asymmetry, limited neck mobility. People congenital d...

2008
Jawad Jalil Mobeen Shafique Nasser Rashid Dar

Klippel and Feil in 1912, first described the disorder in a 46-year-old French man who had a short immobile neck with massive fusion of cervical and upper thoracic vertebrae,1 which came to be known as the Klippel-Feil syndrome. Later on, other anomalies were described in association with it thus making it a multi-system congenital disorder. It is characterized by fusion of cervical vertebrae a...

Journal: :Genetics 1983
H Sang H L Whitehouse

Aberrant asci containing one or more wild-type spores were selected from crosses between pairs of alleles of the buff locus in the presence of closely linked flanking markers. Data were obtained relating to the site of aberrant segregation and the position of any associated crossover giving recombination of flanking markers. Aberrant segregation at a proximal site within the buff gene may be as...

Journal: :Journal of clinical and diagnostic research : JCDR 2014
Shabana Begum Tanushree Roy Tanwi Ghosal Sen Indrajit Gupta

An abnormal atlas and axis with presence of os odontoideum and fusion of multiple vertebrae were noted in an intact skeleton, in the osteology museum of the Department of Anatomy of North Bengal Medical College, West Bengal, India.These multiple abnormalities at various levels along with increased thickness of antero-posterior arch of atlas pointed towards the congenital nature of the anomalies...

Journal: :Annals of nuclear medicine 1999
K Suga K Motoyama A Hara N Kume N Matsunaga R Kametani M Matsuzaki

A 28-year-old woman with a deformed thorax and kyphoscoliosis associated with Klippel-Feil syndrome developed respiratory failure with pulmonary hypertension. Pulmonary 133Xe ventilation and 99mTc-MAA perfusion scintigraphies showed maldistributions of lung ventilation and perfusion, and noticeably delayed 133Xe washout from the lungs. Dynamic breathing MR imaging showed poor and/or asynchronou...

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