Spondyloepiphyseal Dysplasia Congenita and Morquio's disease

Abstract

Different types of spondyloepiphyseal dysplasia were reported.
Case 1.
A 14-year-old girl whose parents were psychosis was a dwarfism (height 95.5cm.) with kyphoscoliosis, marked-lumbar lordosis and myopia. X-rays revealed marked coxa vara, knock knees and tongue-like deformity of the eleventh thoracic vertebral body.
Laboratory tests showed no excretion of keratan sulfate in urine.
Case 2.
A 8-year-old girl whose parents were blood relative had showed initially abnormal gait and knock knees in the third year of life. She was a dwarfism (height 102cm.) with pigeon chest and corneal clouding, and her X-rays showed generalized platyspondyly, coxa valga and underdeveloped carpal bones. Keratan sulfate was found in urine.
The case 1. was diagnosed as Spondyloepiphyseal dysplasia congenita and the case 2. as Morquio's disease.