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- W2000712918 abstract "We describe three cases of a severe malformation syndrome in siblings of both sexes. The characteristic features observed were absent intrauterine ossification of an apparently normal cartilaginous spinal column; rib abnormalities, with unossified segments and posterior gaps; thoracic hypoplasia; and multiple intralobar nephrogenic rests in the kidneys. This syndrome can be identified in early pregnancy by ultrasound scans due to the lack of ossification of the thoraco-lumbar spine and its association with increased nuchal translucency thickness. We suggest that this is a newly recognized autosomal recessive syndrome." @default.
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- W2000712918 date "2003-03-11" @default.
- W2000712918 modified "2023-10-09" @default.
- W2000712918 title "A newly recognized autosomal recessive syndrome with abnormal vertebral ossification, rib abnormalities, and nephrogenic rests" @default.
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- W2000712918 doi "https://doi.org/10.1002/ajmg.a.20097" @default.
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