MPS IV B. Morquio B disease.
Incidence
1:40,000 both forms. AR inheritance. It is a milder form. It is a beta-galactosidase deficiency.
Clinical Characteristics
Severe dwarfism, normal intelligence. Marked skeletal deformities with marked shortening of the trunk, curved spine, typical barrel chest with pigeon breast and short neck. Prominent maxilla. Cardiac problems due to abnormal chest. Late corneal opacity. Marked spondylepiphyseal dysplasia. Type B is less severe and hypoplasia of odontoid process rarely present and bulbospinal compression may seldom occur.
Precipitants
no
Provocation Tests
no
Diagnostic Procedures
EB(F), Urine metabolic screen with Berry test. MPS (KS) in urine.