The protein encoded by the MEOX1 gene (homeobox protein MOX-1) plays a role in somitogenesis and is specifically involved in the sclerotome formation 9, 10. GDF6 (growth differentiation factor 6) is also of the TGF-p/BMP family and mutations in this gene cause KFS I deformity. The GDF3 gene (is a growth differen tiation factor 3) of the family TGF-p/BMP (transfor ming growth factor-beta/bone morphogenetic pro tein), and mutations in this gene cause the Klippel-Feil Ill deformity. Mutations associated with autosomal dominant KFS syndrome 7, 8 are located in GDF3, GDF6, and MEOX1 genes. In Ecuador, the four described cases were from the Genetics of Paz-y-MiƱo (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.
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