This condition was reported by Maroteaux & Lamy in 1959. It is one of the most common dwarfisms encountered by the orthopaedic surgeon, possibly because of its liability to multiple deformities.
Inheritance is generally autosomal dominant.
Clinical Features
Many children appear normal at birth, though close examination may reveal limited elbow extension and slightly short limbs. The head and face are normal.
Walking is delayed and soon after, waddling gait, lumbar lordosis and bow leg develop. The knees and wrists tend to show joint laxity and the hips, shoulders, elbows and knees may show varying degrees of joint incongruity.
Moderate or severe dwarfing develops.
The hand is a trident type of hand, reaching only to the greater trochanters, as in achondroplasia.
The fingers are short and the wrists ulnar-deviated. The elbows show limited extension and the shoulders limited movement and subluxation.
The hips show limited movements and the knees various deformities, but usually genu varum or recurvatum.
The feet tend to have secondary valgus, especially if there is medial rotation deformity of the limb. Scoliosis may develop in later childhood.
During adolescence, the hips and knees may become painful and premature arthritis develops in adult life.
Radiological Appearances
The vertebral bodies show some flattening and anterior blunt projections.
In antero-posterior views, there is no alteration in the interpedicular distances.
Kyphosis may occur at the thoracolumbar junction, or scoliosis in the thoracic or cervicothoracic spine.
The hips show abnormally shaped acetabula and the femoral necks are in varus. The epiphyses at the knee show wide irregular metaphyses and irregular epiphyses often with deformity. The fibula is often longer than the tibia and the fibular malleolus projects distally.
The hands show typical short metacarpals and phalanges with blunt proximal ends of the metacarpals and distal end of the phalanges.
Differential Diagnosis
The condition most often confused with this syndrome is achondroplasia because of the short limbs and relatively long trunk but the absence of craniofacial abnormalities, or of caudal narrowing of the interpedicular distances and mild disturbance of joints in achondroplasia usually suffices to differentiate them.
Treatment
Treatment is likely to be needed for the spine and knees in childhood and for the hips in adult life.
Some degree of odontoid hypoplasia combined with ligamentous laxity may result in atlanto-axial instability that demands early atlanto-axial fusion.
Scoliosis may develop but is seldom severe and usually responds to treatment by a Milwaukee brace if it threatens to progress.
Knee deformity is common and may be as genu varum, genu recurvatum. Osteotomy of the upper tibia or lower femur or both may be indicated according to need but there is a considerable liability to recurrence.
Distal fibular overgrowth that is producing varus deformity of the hindfoot may require lower fibular epiphysiodesis.
The hip may become painful in adult life and require treatment by osteotomy or other measures.
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