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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 ...
It may lead to certain neurological problems depending on the severity of the block. It can increase stress on the inferior and the superior intervertebral joints. It can lead to an abnormal angle in the spine, there are certain syndromes associated with block vertebrae; for example, Klippel–Feil syndrome. The sacrum is a normal block vertebra.
There is disagreement as to how cases of KTS should be classified if there is an arteriovenous fistula present. Although several authorities have suggested that the term Parkes Weber syndrome is applied in those cases, [4] [12] [13] ICD-10 currently uses the term "Klippel–Trénaunay–Weber syndrome".
The mutation in these genes can result in Klippel-Feil syndrome. As a result of having congenital Klippel-Feil syndrome, the spinal anatomy of the individual will present abnormal fusion of any two of the seven cervical bones in the neck. [13] This is considered to be an anomaly of cervical bones. [14]
CT scan showing Sprengel's deformity of the left side (arrow) and fused cervical vertebrae, as seen in Klippel–Feil syndrome. The scapula is small and rotated so that its inferior edge points toward the spine. Sometimes a bony connection is present between the elevated scapula and one of the cervical vertebrae, usually C5 or C6.
Generally, diseases outlined within the ICD-10 codes Q65-Q79 within Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities should be included in this category. Wikimedia Commons has media related to Congenital diseases and disorders of musculoskeletal system .
It is a feature of Turner syndrome [1] (only found in girls) and Noonan syndrome, [2] as well as the rarer Klippel–Feil syndrome, [3] or Diamond–Blackfan anemia. [4]
An example is Klippel–Feil syndrome. [citation needed] Although present at birth, some only become obvious postnatally. [2] References