Abstract
Mucopolysaccharidosis (MPS) refers to a group of genetic disorder characterized by excessive accumulation of mucopolysaccharides secondary to deficiencies in specific enzymes. It produces characteristic skeletal abnormalities collectively termed as “dysostosis multiplex”. Here we describe a young female child with classical radiological features of MPS on plain radiographs. JMS 2012;15(1):54-56.
Highlights
Mucopolysaccharidosis (MPS) refers to a group of genetic disorder characterized by excessive accumulation of mucopolysaccharides secondary to deficiencies in specific enzymes
The mucopolysaccharidoses (MPS) are a heterogeneous group of lysosomal storage disorders caused by the deficiency of enzymes required for the stepwise breakdown of glycosaminoglycans
Hurler syndrome is characterized by normal appearance at birth with gradual development of coarse facies and midface hypoplasia
Summary
Mucopolysaccharidosis (MPS) refers to a group of genetic disorder characterized by excessive accumulation of mucopolysaccharides secondary to deficiencies in specific enzymes. A 27 months old female child was referred for evaluation of developmental delay, short stature and recurrent chest infections. The child was a product of non-consanguineous marriage and was born at term through normal vaginal delivery. The postnatal period was uneventful and the child appeared normal after birth.
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