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The disease was initially reported in 1884 by Maurice Klippel and André Feil from France. [4] In 1919, in his Doctor of Philosophy thesis, [5] André Feil suggested another classification of the syndrome, encompassing not only deformation of the cervical spine, but also deformation of the lumbar and thoracic spine.
Hemivertebrae are wedge-shaped vertebrae and therefore can cause an angle in the spine (such as kyphosis, scoliosis, and lordosis). Among the congenital vertebral anomalies, hemivertebrae are the most likely to cause neurologic problems. [5] The most common location is the midthoracic vertebrae, especially the eighth (T8). [6]
[1] [3] [4] They may be born with congenital vertebral anomalies; parts of the spine may be fused and fail to segment. [4] There may also be extra vertebrae in the lower back. [5] [7] Some of those affected have been reported to have premature fusion of the skull bones (craniosynostosis), particularly those across the midline and at the front ...
It is a congenital disorder in which the fetal development of the lower spine—the caudal partition of the spine—is abnormal. [1] It occurs at a rate of approximately one per 60,000 live births. [2] Some babies are born with very small differences compared to typical development, and others have significant changes.
Kabuki syndrome (previously known as Kabuki-makeup syndrome (KMS) or Niikawa–Kuroki syndrome) is a rare congenital disorder of genetic origin. [1] [2] It affects multiple parts of the body, with varying symptoms and severity, although the most common is the characteristic facial appearance.
Spondylocostal dysostosis, also known as Jarcho-Levin syndrome (JLS), is a rare, heritable axial skeleton growth disorder. It is characterized by widespread and sometimes severe malformations of the vertebral column and ribs, shortened thorax, and moderate to severe scoliosis and kyphosis.
CLOVES syndrome affects people with various symptoms, ranging from mild fatty soft-tissue tumors to vascular malformations encompassing the spine or internal organs. It is a genetic disorder that results from somatic, mosaic gain-of-function mutations of the PIK3CA gene, and belongs to the spectrum of PIK3CA -related overgrowth syndromes (PROS).
Barakat syndrome is a rare disease characterized by hypoparathyroidism, sensorineural deafness and renal disease, and hence also known as HDR syndrome. It is an autosomal dominant condition with incomplete penetrance and variable expressivity [ 2 ] that was first described by Amin J. Barakat et al. in 1977.