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Kenny-Caffey syndrome type 1

An autosomal recessive condition (OMIM:244460) characterised by marked growth retardation, craniofacial anomalies, small hands and feet, hypocalcaemia, hypoparathyroidism, radiologic evidence of cortical thickening of long bones with medullary stenosis, and absent diploic space in the skull; many die in infancy with hypocalcemic convulsions. It is similar to hypoparathyroidism-retardation-dysmorphism syndrome, with the additional findings of osteosclerosis and recurrent bacterial infections.

Molecular pathology
Caused by defects of TBCE, which encodes chaperone/cofactor E, a protein involved in ensuring that beta-tubulin is correctly folded.
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Tom Siddall drove him out to beat King's Counsel by a length and three-quarters.
IT WAS a fine day for trainer James Hetherton as he landed a 39-1 double with King's Counsel, who took the 1m1f handicap, and Pepper Lane, who won the 6f handicap.
Star performance Silvestre de Sousa for a fine front-running ride on King's Counsel Quote of the day "Things are getting better.
Mick Easterby's gelding stayed on to take third in a handicap hurdle at Newcastle on heavy going on his penultimate start and it was a similar story when a staying-on fourth behind King's Counsel at Catterick last time.