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Chapter: Paediatrics: Bones and joints

Paediatrics: Skeletal dysplasias

This is a heterogeneous group of conditions characterized by abnormal growth of bones.

Skeletal dysplasias

 

This is a heterogeneous group of conditions characterized by abnormal growth of bones. They can be classified according to the region of bone involved or by their genotype (see Table 20.3).


 

Radial dysplasia

 

An absent or hypoplastic radius that causes abnormal radial deviation of the hand. This is the most common form of longitudinal upper limb deficiency and is often accompanied by a congenitally absent thumb. Anomalies of other systems may also be associated.

   TAR.

 

   FA.

 

   Holt–Oram syndrome: AD; cardiac anomalies, and radial dysplasia.

 

   VACTERL (vertebral anomalies, anal atresia, cardiac malformations, tracheo-oesophageal fistula, renal and limb anomalies).

 

Management

 

   Serial castings/splinting.

 

   Surgery is usually required to place the hand in position to maximize function. If a thumb is absent, pollicization of the index finger could improve function. The index finger is reconstructed and radially positioned to form a functional ‘thumb’.

 

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Paediatrics: Bones and joints


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