Main clinical features
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renal abnormalities ranging from a mild hyperechoic renal cortex to the complete absence of both kidneys, short proximal long bones or micromelia, cardiac (heart was either hypoplastic due to underdevelopment of the left ventricle or compromised by malformation of the aorta and pulmonary artery) and vertebral abnormalities (vertebral defects included scoliosis with multiple malformed vertebrae and ribs, and segmentation defects of the thoracic, lumbar, and sacral spine)
early death |