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Autosomal recessive disorders are common in consanguineous marriage couples. Horizontal transmission of disease is seen among the siblings with 25% affected, 50% carriers and 25% normal individuals. Klippel-Feil syndrome (KFS) is a rare, congenital syndrome complex of osseous and visceral anomalies with a clinical triad of short neck, limitation of...
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Context 1
... examination, the patient had swelling in occipital region of 3 x 3 cm which cystic and non-translucent in nature, short neck with global restriction of neck movements and short trunk dwarfism Peripheral smear showed microcytic hypochromic anemia f) X ray cervical spine showed fusion of C1 -C6 vertebrae with fusion of spinous process with normal atlanto dens interval, exaggerated lordosis, normal anterior posterior ligaments, normal dens and normal tracheal shadow (as shown in figure 3) g) CT brain revealed 11 mm midline occipital bone defect noted with herniation of meninges with CSF flow through it which is suggestive of occipital meningocele; 10 mm defect also noted in frontal bone on left side with underlying gliosis in left frontal lobe and ex-vacuo dilatation of frontal horn of left lateral ventricle (as shown in figure 4). ...
