Abstract

A case study details the clinical, biochemical, and roentgenographic findings in a diastrophic dwarf. The clinical findings were scoliosis and lordosis of the spine, club feet, cleft palate, dysplastic hips, and flexion contractures of knee joints and short extremities. Biochemical abnormalities observed were high cholesterol level, abnormal glucose tolerance, low growth hormone levels, and abnormal excretion of xanthurenic and kynurenic acids following tryptophan loading.

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