Concluded Case

differential ddx

16 Yrs old boy...presents the following deformities.. Physical growth is less with age...Differential Dx...

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Concluded answer

Morquio Syndrome, also known as Mucopolysaccharidosis Type IV

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Morquio syndrome also called mucopolysacharidosis - but classical bell shaped anterior chest is not like in Morquio syndrome. So Differential Diagnosis is 1.Klippelfiel syndrome 2.Sprengel shoulder 3Hurler's syndrome 4.Skeletal dysplasia

Morqulo Syndrome.. Morquio syndrome, also known as Mucopolysaccharidosis Type IV (MPS IV), is a rare metabolic disorder in which the body cannot process certain types of sugar molecules called glycosaminoglycans (AKA GAGs, or mucopolysaccharides). ... This birth defect, which is autosomal recessive, is a type of lysosomal storage disorder. DD.. Congenital SED/ * Skeletal deformity** Sanfilippo Syndrome (Mucopolysaccharidosis Type III) Maroteaux-Lamy Syndrome (Mucopolysaccharidosis Type VI) Sly Syndrome (Mucopolysaccharidosis Type VII) GM1 Gangliosidosis Mucolipidosis II

Morquio Syndrome, also known as Mucopolysaccharidosis Type IV

Morquio syndrome

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Consider possibility of Spondyloepiphyseal dysplasia Congenital fusion of vertebrae Xray evaluation of spine

SUGGESTIVE OF MUCOPOLYSACCHARIDOSIS . MORQUIO. SYNDROME

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It is case of Morquio syndrome a congenital defect and deformity grows worsen as the baby grows older. It is an extreme rare one occurs 1 in 200000. It also called mucopolysacharidosis.

RICKETS ( due to lack of vitamin D )

Morquio syndrome

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