Ramesh R Pol, B.C. Yelamali, Mahesh Bhagawati.
Department of Pediatrics, S. Nijalingappa Medical College, Bagalkot, Karnataka.
ADDRESS FOR CORRESPONDENCE
Dr. Ramesh R. Pol, Assistant Professor, Department of Pediatrics, S.Nijalingappa Medical College, Bagalkot-587102, Karnataka.
Email: rameshpol1004@yahoo.co.in | | Keywords | | Club Hand, Apical Ectodermal Ridge, Absent Thumb, Absent Radius | | | A 21 year old primigravida with severe anemia delivered a baby girl with abnormally short right forearm, absent right thumb with radial deviation of hand .(Figure-1) Birth weight was 2.5 kg. General physical and systemic examination was normal, and no other malformation was noted clinically. Radiograph of right hand and forearm showed absent radius, absent thumb, absent 1st metacarpal bone, short ulna with radial deviation and no carpal bones. (Figure-2) Other examination findings were normal. Chest x-ray, echocardiography, blood counts, ultrasound of abodmen were normal. There was no history of any drug intake during antenatal period. Child is being followed-up since one and half years of age and her repeat Blood counts are normal.
Figure-1: Short right forearm, absent right thumb with radial deviation of hand
Figure-2: Radiograph of right hand and forearm showed absent radius, absent thumb, absent 1st metacarpal bone, short ulna with radial deviation and no carpal bone
Club hand deformitis are classified into two main categories radial and ulnar. Radial club hand includes a wide spectum of disorders that encompass absent thumb, thumb hypoplasia, thin first metacarpal and absent radius. Ulnar club hand is much less frequent than radial club hand and ranges from mild deviation of hand on the ulnar side of forearm to complete absence of ulna. Radial club hand is frequently syndromatic, where as ulnar club hand is usually isolated anomaly .(1) Radial club hand is a deficiency along the preaxial or radial side of the extremity. Petit in 1733, described the first case of Radial club hand in an autopsy of neonate with bilateral club hands and absent radii. Although considerable forearm and hand anomalies are the classic findings, proximal deficiencies can occur throughout arm and shoulder girdle. (2,3) Few cases of Radial club hand have been reported in Indian literature .(4,5) Radial club hand develops early in pregnancy, with defect occurring during embryo development (between the 28th and 56th day of gestation), when the bones of the hand and forearm are being formed. Sometimes, it can be picked up on a prenatal ultrasound. Even if it is detected prenatally, the condition cannot be treated until after the baby is born. Most cases are sporadic without definable cause. The frequency of this anomaly is between 1:55000 to 1:100000 live births. Radial deficiency is bilateral in 50% of cases and is slightly more common in males than in females (3:2). The incidence of radial deficiency within the same family is 5 to 10%; it is most common in radial aplasia associated with cardiac abnormalities .(3,6) Several theories have been raised, such as maternal drug exposure, compression of the uterus, vascular injury, but the Current theory relates the etiology of radial club hand to the Apical Ectodermal Ridge (AER). This structure is a thickened layer of ectoderm that directs differentiation of underlying mesenchymal tissue and limb formation. Removal of a portion of AER in chick embryos has produced anomalies similar to radial club hand. Therefore, a defect of AER is the most probable cause of radial club hand. The extent of deformity is related to the degree and extent of AER absence. Heikel, based on the amount of radius present, classifies radial club hand into four types. Type I: Short distal radius - mildest type, Type II: Hypoplastic radius, Type III: Partial absence of radius, Type IV: Total absence of radius - most common variant. Variable degrees of thumb deficiencies are frequently associated with all patterns. (6) In Radial club hand, forearm is foreshortened, with marked curving of the forearm, stiffness of the elbow and fingers, the wrist is positioned in radial deviation, and the thumb will either be small or absent. Abnormalities of bone and joint, muscles and tendons, nerves and arteries are seen with this condition .(7) Many anomalies can have association with Radial dysplasia. Cardiovascular anomalies include ventricular septal defect, patent ductus arteriosus, coarctation, Dextrocardia, and pulmonary stenosis. Genito-urinary anomalies include ectopic kidney, hypoplastic kidney, urethral valve, horseshoe kidney and duplication. GIT anomalies seen are esophageal atresia, TE fistula, anal atresia, small bowel atresia and malrotation. Skeletal conditions like scoliosis, hemi vertebrae, Klein-filter syndrome, sacral agenesis and hip dislocation. (8) Whenever a club hand is identified it is important to conduct a thorough examination of fetus and new born to delineate associated anomalies that may suggest a syndrome. Fetal blood sampling procedures and fetal echocardiography are recommended. A complete blood cell count including platelets is important to diagnose hematological conditions like Fanconi's anemia, TAR syndrome, Aase syndrome. Fetal karyotype is indicated because several chromosomal anomalies may be associated (Trisomy 18 and 21, deletion of long arm of chromosome 13 and ring formation of chromosome 4). Syndromes associated with absent or hypoplastic thumb with radial dysplasia include Holt-Oram, DeLange, Daune, Ives Houston, and Roberts, Rothmund Thompson and Shokeir syndromes. | | | | Compliance with Ethical Standards | | Funding None | | | | Conflict of Interest None | | |
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| Cite this article as: | | Pol R R, Yelamali B, Bhagawati M. Radial Club Hand. Pediatr Oncall J. 2010;7: 49-50. |
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