Case II

A 6-year-old boy born to consanguineous parents presented with short stature and deformity of chest and limbs. Clinical examination revealed a very short child with the height of 86 cm (height age 2½ years). He had mild coarse facies, clear corneas, short neck and normal intelligence. Other salient features were short trunk, kyphosis, pectus carinatum, protruded abdomen and knock knees (Fig. 1). Liver was palpable 6 cm below the right costal margin and spleen was 2 cm palpable. The blood picture was normal and urine was positive for mucopolysaccharides. X-ray spine showed marked platyspondyly typical of Morquio Syndrome. Echocardio-gram revealed grade II mitral valve prolapse.
Hint( a genetic cause of short stature)