![]() In Ecuador, the four described cases were from the Genetics of Paz-y-Miño (2014a) consultation 6. There are four KFS types 5 which are type I, classic single C1 fusion (autosomal recessive) type II, C2-C3 synostosis, cervical, thoracic, and lumbar fusion, and variable expression among a family (autosomal dominant) type Ill, isolated cervical fusion (recessive), and type IV, fusion in cervical vertebrae (probably linked to the X chromosome) classified according to differences in vertebral synostosis in specific regions and inheritan ce pattern. The estimated incidence is 1 per 40,000 to 42,000 births worldwide and is most preva lent in females with a 1.5/1 ratio 4. Only 34-74% of diagnosed cases have classical clini cal manifestations 3. ![]() The classic clinical triad consists of a short neck, low hairline, and neck movement limitations. ![]() It is caused by a failure in the nor mal vertebrae segmentation during the fourth week of gestation 2. ![]() Klippel-Feil Syndrome (KFS) (OMIM# 118100) is a highly heterogeneous complex skeletal dysplasia characterized by the congenital fusion of two or more cervical vertebrae 1. ![]()
0 Comments
Leave a Reply. |
AuthorWrite something about yourself. No need to be fancy, just an overview. ArchivesCategories |