KLIPPEL FEIL SYNDROME dnbid

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KLIPPEL FEIL SYNDROME (BREVICOLLIS; CONGENITAL SHORT NECK) :

D. N. Bid KLIPPEL FEIL SYNDROME (BREVICOLLIS; CONGENITAL SHORT NECK) 2/13/2011 1

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In this segmentation defect there is fusion of two or more cervical vertebrae. 2/13/2011 2

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The prominent features of this syndrome are: Short neck or absence of neck Absence, or limitation, of movement of the neck Lowered hair line Often there is an expressionless mongoloid type of face. 2/13/2011 3

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The neck is frog like and so short that the individual may appear to have no neck at all. Movements of neck are very limited or are practically absent, and movements of the facial muscles are sometimes limited as well. The trapezii are tense and produce a wing-like appearance which has given rise to the name ‘congenital webbed neck’ . There may be an added Torticollis of muscular or bony origin. Associated anomalies are common and include hemivertebrae , posterior arch defects, cervical meningomyelocele, thoracic defects, scapular elevation and visceral abnormalities. 2/13/2011 5

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X-ray may show fusion of the lower cervical vertebrae and various combinations of the associated disorders, together with scoliosis or kyphosis. 2/13/2011 6

TREATMENT :

Treatment as a rule is not indicated, but in cases where there is an extensive fold of skin a plastic surgery may produce marked improvement. Scoliosis may require correction and fusion. Occasionally, operative relief is needed for threatened cord compression. TREATMENT 2/13/2011 7

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THE END 2/13/2011 8

CONGENITAL RADIOULNAR SYNOSTOSIS :

In congenital radioulnar synostosis one or both forearms are fixed at birth in a position midway between pronation and supination as a result of fusion of the proximal ends of the radius and ulna. In some cases the condition is hereditary, and it is equally common in both sexes. CONGENITAL RADIOULNAR SYNOSTOSIS 2/13/2011 9

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There are three types of radioulnar synostosis. It can be unilateral or bilateral. True congenital radioulnar synostosis : The upper end of radius is imperfectly formed, being fused to the ulna for a distance of several centimeters, and appears to grow from its upper end. Second type : there is a congenital dislocation of an ill-formed head of radius, and the radius and ulna are anchored at some point short way distal to their upper extremities, usually in the region of the coronoid , by a short, thick, interosseous ligament. Third type : Head of radius is present but is malformed and, together with upper part of the shaft, is fused with the upper end of the ulna. 2/13/2011 10

AETIOLOGY :

Congenital radioulnar synostosis is essentially an arrest of development. The radius and ulna develop from a single mass of mesoderm as a pair of separate cartilaginous rods. From about the fifth week, the volar aspect of the developing arm is applied to the trunk, so that the radial and ulnar cartilaginous rods are in a position midway between pronation and supination . If the normal separation into distinct rods does not occur at the upper part of the developing bones, or if chondrification and, later, ossification extend across the mesoderm filled interval between their upper ends, a congenital radioulnar synostosis develops. AETIOLOGY 2/13/2011 11

CLINICAL FEATURES :

The main feature is fixation of the fore arm in a position of mid-pronation. Movements of the elbow joint are unusually free, although extension may be limited. Wrist movements are often unduly free. There is no movement of radius on the ulna, however, and there appears to be firm osseous union between the bones. CLINICAL FEATURES 2/13/2011 12

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In a unilateral case the affected forearm is thinner, and has a curious twisted appearance due to an alteration in the axis of the principal groups of muscles. At the point normally occupied by the head of the radius there may be a well marked sulcus, owing to the head being displaced backwards or forwards, or being imperfectly developed. The limitation of movement in the forearm is to some extent compensated for by rotation of the humerus, but the palm can never be fully supinated . The functional disability is therefore considerable, although there may be little or no complaint, since the normal use of the hand has never been experienced. 2/13/2011 13

DIFFERENTIAL DIAGNOSIS :

Pulled Elbow : A small child or infant may present with an arm held in the mid-pronation flexed position, with some pain on attempting to straighten the elbow. Usually the parent can remember the child stumbling or being swung round with the hand being held. On examination there may be tenderness over the radial head, which is aggravated by attempting to supinate the forearm. Radiographs of both elbow joints are necessary to delineate the abnormal axial position of the radial head. Reduction is usually easy by a full pronation of the forearm and compression of the radial head posteriorly. DIFFERENTIAL DIAGNOSIS 2/13/2011 14

Treatment :

Although it seems obvious that an operation is indicated, the bony bridge is only part of the deformity; the soft tissues are not normally developed and the recorded results of operation are disappointing. In the type associated with dislocation of the head of the radius, where the soft parts are more normal, the prospect of helpful intervention is more hopeful, but in any case, the prognosis should be guarded. If the pronation is extreme it can be reduced by osteotomy, but in most cases the disability does not warrant operation. Treatment 2/13/2011 15

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THE END 2/13/2011 16

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