Radical Deficiency (Radical Clubhand)

76 Radial Deficiency (Radial Clubhand)

Alexander D. Mih

History and Clinical Presentation

A 4-month-old girl was seen for evaluation of right upper extremity deformity. She was the product of a full-term delivery to a 30-year-old mother. The mother recalls no specific problems with pregnancy or medication requirement. There was no family history of orthopaedic problems. The patient’s history included a known ventricular septal defect.

Physical Examination

The patient’s right upper extremity was remarkable for an elbow with a fixed contracture at 20 degrees, a shortened right forearm compared with the uninvolved opposite side, severe radial deviation at the level of the wrist, and absent thumb.

No passive motion of the elbow was present. The wrist was passively correctable to neutral in the radioulnar plane as well as to 10 degrees extension in the anteroposterior plane.

Radiographic Findings

Radiographs of the upper extremity showed a reduced ulnohumeral joint with the complete absence of the radius. The carpal bones were deviated 70 degrees from the long axis of the ulna, with the capitate ossification center found directly radial to the end of the ulna. There was complete absence of the thumb metacarpal and phalanges (Fig. 76–1).

Differential Diagnosis

Radial clubhead

Transverse deficiency

Ulnar deficiency

Figure 76–1 (A) Anteroposterior radiograph of wrist showing radial deviation and complete radial absence. (B) Lateral radiograph of wrist showing flexion deformity.

Diagnosis

Radial Clubhead

This patient shows complete absence of radius with the frequently associated findings of an elbow contracture combined with complete absence of the thumb. The diagnosis is radial longitudinal deficiency.

Radial longitudinal deficiency is seen in ∼1 in 50,000 births. This condition is seen more often in males than females and is bilateral in almost 50% of the cases. Classification of this deformity is as follows: type I, short distal radius; type II, hypoplastic radius; type III, partial absence of radius; type IV, complete absence of radius. The type IV deficiency is the most common. Radial longitudinal deficiency occurs frequently in association with other malformations involving the cardiac, gastrointestinal, pulmonary, genitourinary, neurologic, and skeletal systems. Syndromes that involve radial longitudinal deficiency include Fanconi’s anemia, the thrombocytopenia absent radius syndrome, the Holt-Oram syndrome, and the VATER association (vertebral defects, imperforate anus, tracheoesophageal fistula, and radial and renal dysplasia).

In this disorder, the preaxial muscles along the radial aspect of the forearm are severely affected or absent. A common flexor/extensor carpi radialis may be found and provides a significant deforming force. Although the ulnar artery is present, the radial artery is usually absent. The radial nerve is also absent with an anomalous branch of the median nerve often found to be a tethering structure when surgery is performed.