She had seven prenatal controls, the mother had no history of consumption of alcohol or valproic acid during pregnancy. The objective of this research was to describe the clinical-radiological and genealogical findings of a pa tient with Klippel-Feil syndrome.įemale patient, only child of a couple with no his tory of consanguinity or endogamy who was referred at age 5 to the genetic service. The hemivertebra is caused by insufficient segmentation of two or more vertebrae 12. Pax genes also play an important role during verte brate embryogenesis, possibly by determining the tem porality and place of organs formation such as the bra in, eyes, ears, nose, spine, kidneys, and limb muscles.Ĭonsidering its genomic organization, domain se quences, and expression patterns, the Pax gene family has been classified into four subfamilies family 1 con sists of genes Pax1 and Pax9, family 2 of genes Pax2, Pax5 and Pax8 family 3 of genes Pax3 and Pax7 and family 4 of genes Pax4 and Pa圆 11.ĭuring the fourth week of embryonic develop ment, the differentiation of somites takes place, where the sclerotome expresses the Pax1 transcription factor, which initiates the genes cascade that forms cartila ge and bone for the formation of vertebrae, ribs, and sternum 2, 10. 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.
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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-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.
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