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If your institution subscribes to this resource, and you don't have a MyAccess Profile, please contact your library's reference desk for information on how to gain access to this resource from off-campus. Bent or bowed limbs occur in other skeletal malformation syndromes and are not pathognomonic for CD.
Major diagnostic radiologic features include bowed or angulated femora and tibiae, hypoplastic scapulae, vertically narrow iliac wings, and nonmineralized thoracic pedicles. No single feature is diagnostic, but each of these appears with high frequency, and no other syndrome has this combination of features. Additional common radiologic features are facial hypoplasia, abnormal cervical vertebrae, slender ribs, 11 pairs of ribs, small chest, dislocated hips, a variety of pelvic abnormalities, and short first metacarpal.
Common clinical features include micrognathia, respiratory distress, flat nasal bridge, pretibial dimples, macrocephaly, and talipes equinovarus. More than two-thirds of 46,XY campomelic dysplasia patients are sex reversed, developing as phenotypic females due to a failure to form testes. The degree of sex reversal can vary, with the most common outcome being normal phenotypic female with dysgenic ovaries.
Dominant mutations in the transcription factor SOX9 are responsible for both the skeletal and the sex development phenotypes. Mutation analysis and functional assays suggest that the phenotypes result from haploinsufficiency due to loss-of-function mutations of a single SOX9 allele. SOX9 mutations apparently do not cause sex reversal in the absence of CD skeletal defects. SOX9 appears to be a critical component of the developmental pathways of both cartilage formation and testis formation, functioning independently in the development of these two dissimilar tissues.
Closing Ceremony. lithuania behind_xjpg . 5 CRO Croatia. 6 LTU Lithuania. 7 CZE Czech Republic. 8 BLR Belarus. 9 TUR Turkey. 10 LAT Latvia. In she graduated in Scenography at Vilnius Academy of Arts, Lithuania and moved to Belgium, where she continued her studies at KASK Ghent (Royal. Lituania M, Cordone M, Zampatti C, et al. Prenatal diagnosis of a Pygomelie ( parasitischer Pygopagus) beieinem 26 Tage alten Madchen. ZAnat. .