Congenital isolated right radial club hand.

Congenital radial club hand (RCH) is an uncommon congenital anomaly characterized by various degrees of deficiency along the preaxial or radial side of the extremity. We present one such case of Type 4 congenital isolated RCH who presented to a tertiary care center in the Middle East.

A four-month-old male child was referred for evaluation of right upper limb deformity. He was born at term by normal delivery following an uneventful pregnancy and there was no significant past medical or surgical history. He was the first child of non-consanguineous parents and there was no family history of congenital anomalies. Physical examination of the baby revealed deformity of right forearm which appeared shorter than contra lateral side with radial deviation at the wrist (Fig. 1). All the fingers of the affected hand including the thumb were however normal. Physical examination by our team and by the pediatricians revealed no other abnormalities. Hemoglobin, total and differential leucocytes count, platelet count, and renal function tests were all within normal limits in more than one occasion. Radiographs of both upper limbs revealed complete aplasia of radius and shortening of the ulna on the right side (Fig. 2). Skeletal survey, ultrasonogram of abdomen, and cardiac echocardiogram ruled out any other associated congenital anomalies. The diagnosis of isolated right congenital radial club hand (RCH) Type IV was made and the parents were counseled. The management of the child was started in collaboration with physiotherapists and the family were taught some simple and easily reproducible exercises to passively stretch the radial structures. Custom-made splints were also fabricated by the orthotics division for nocturnal application to the affected limb with the aim of stretching the radial wrist structures. In future, when the level of deformity is deemed optimal for operative intervention (expected by age of one year), operative centralization of the wrist on ulna will be undertaken.

Fig. 1

Right congenital radial club hand.

Fig. 2

Type IV radial club hand with complete absence of radius.

Discussion

Congenital RCH, also called longitudinal radial deficiency or radial dysplasia, is an uncommon congenital anomaly characterized by various degrees of deficiency along the preaxial or radial side of the extremity (1). The ulna is typically 60% of normal length. The incidence of RCH is estimated to be 1 in 30,000 to 1 in 100,000 live births (2). It is bilateral in 38–58% of cases. Bayne and Klug classified radial deficiency into four types (3):

Type I: Mildest form with defective distal radial epiphysis. Minor radial deviation of the hand is apparent, although considerable thumb hypoplasia may be evident.

Type II: Involves limited growth of the radius on both its distal and proximal sides and characterized by a miniature radius and moderate radial deviation of the wrist.

Type III: Absence of two-thirds of the radius, most commonly the distal side and severe radial deviation of the wrist.

Type IV: This type of RCH is the most common and most severe and involves complete absence of the radius. The hand tends to develop a perpendicular relationship to the forearm. Our patient belonged to this type.

RCH usually occurs sporadically with no known cause. About 40% of patients with unilateral club hand and 27% with bilateral club hand have associated congenital anomalies involving cardiac, genitourinary, skeletal, and hematopoietic system (4). The prominent syndromes associated with RCH include: Holt-Oram syndrome; thrombocytopenia-absent radius (TAR) syndrome; vertebral, anal, cardiac, tracheal, esophageal, renal, and limb (VACTERL) syndrome; and Fanconi anemia. The latter is a serious associated condition which usually manifests as aplastic anemia between 3 and 12 years of age.

Correction of RCH requires a combination of non-operative and operative management that should start immediately after diagnosis. Patients should be assessed thoroughly to identify any possible associated anomalies. The basic goals of correction include correction of radial deviation of wrist, balancing the wrist on forearm, maintenance of wrist and finger flexion, promotion of growth of the forearm, and improving the cosmetic appearance of the limb (5). The non-operative management comprises of stretching of the taut radial structures by physiotherapy and splintage (6). Some centers utilize the appliances based on principles of distraction – osteogenesis (Ilazarov technique) to decrease the magnitude of contracture before definitive surgery (7). Operative management aims at centralization of the wrist on the ulna (8). Centralization is indicated in RCH Types II, III, and IV. The cases of RCH need to be kept under follow-up upto adulthood to prevent the recurrence of the deformity (5), and monitor the function of the affected limb and undertake corrective operative and non-operative interventions as warranted.