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Butterfly vertebrae have a sagittal cleft through the body of the vertebrae and a funnel shape at the ends. This gives the appearance of a butterfly on an x-ray. It is caused by persistence of the notochord (which usually only remains as the center of the intervertebral disc) during vertebrae formation. There are usually no symptoms.
Klippel–Feil syndrome (KFS), also known as cervical vertebral fusion syndrome, is a rare congenital condition characterized by the abnormal fusion of any two of the seven bones in the neck (cervical vertebrae). [1]: 578 It can result in a limited ability to move the neck and shortness of the neck, resulting in the appearance of a low hairline ...
Bertolotti's syndrome is a commonly missed cause of back pain which occurs due to lumbosacral transitional vertebrae (LSTV). It is a congenital condition but is not usually symptomatic until one's later twenties or early thirties. [1] However, there are a few cases of Bertolotti's that become symptomatic at a much earlier age.
Diastematomyelia is a "dysraphic state" of unknown embryonic origin, but is probably initiated by an accessory neurenteric canal (an additional embryonic spinal canal.).) This condition may be an isolated phenomenon or may be associated with other segmental anomalies of the vertebral bodies such as spina bifida, kyphoscoliosis, butterfly vertebra, hemivertebra and block vertebrae which are ...
The scanning technique points out any cervical vertebrae defects and misalignments. (Image 1. and 2.) When cervicocranial syndrome is caused as a result of a genetic disease, then family history and genetic testing aid in making an accurate diagnosis of cervicocranial syndrome. 2. Cervical spine x-ray (odontoid view)
Other skeletal defects common in ALGS patients are spina bifida and the fusion of vertebrae. [10] Most of the ophthalmological defects affect the anterior chamber of the eyeball, including Axenfeld's anomaly and Rieger anomaly, but retina pigment changes are also common. [10] These anomalies can be beneficial in diagnosing Alagille syndrome.
X-ray upper limbs and hands showing mesomelic shortening and brachydactyly (A), gingival hyperplasia (B) and X-ray vertebrae showing hemivertebrae and vertebral fusion. Robinow noted the resemblance of affected patients' faces to that of a fetus, using the term "fetal facies" to describe the appearance of a small face and widely spaced eyes. [1]
Larsen syndrome (LS) is a congenital disorder discovered in 1950 by Larsen and associates when they observed dislocation of the large joints and face anomalies in six of their patients. [1]