First AD

Second AD

A male child of normal intelligence, belonging to a nonconsanguineous marriage was sent to the radiology department for skeletal survey to assess coarse facial features,  short stature and spinal deformity. Radiographs of the hands , skull and spine are provided.

Morquio syndrome is a genetic disorder caused by lack of the enzyme responsible for the breakdown of the mucopolysaccharide keratin sulphate.

 Patients with Morquio syndrome do not develop mental retardation, as the metabolism of heparan and dermatan sulphate is normal.

· Marked dwarfism in early childhood
· Kyphoscoliosis
· Muscular hypotonia
· Pectus carinatum
· Coarse facies
· Corneal clouding
· Enlarged wrists and deformed hands are noted.
· Atlantoaxial dislocations occur owing to odontoid hypoplasia

· Central beaking of vertebral bodies (Hurlers: anteroinferior beaking)
· Universal platyspondyly
· Hypoplastic or absent odontoid
· Dysplastic acetabula and capitalfemoral epiphyses
· Short metacarpals with proximal tapering of bases of the metacarpals
· Inclination of the distal growth plate of the radius and ulna
· J-shaped sella

1. Parashari U, Khanduri S, Bhadury S, Rawat S. Roentgenographic diagnosis of mucopolysaccharidosis with particular reference to Morquio syndrome.

2. Seron M, Yochum T, Barry M, Rowe L. Skeletal Dysplasias. In: Yochum T, Rowe L Essentials of Skeletal Radiology, 3

 edition. London: Lippincott Williams & Wilkins; 2005.

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Male child of normal intelligence sent for skeletal survey for coarse facial features, short stature and spinal deformity.

Image IQ: Coarse Facial Features, Short Stature, Spinal Deformity

Amar Udare, MD