AN UNUSUAL CASE OF CONGENITAL HAND AMPUTATION

AN UNUSUAL CASE OF CONGENITAL HAND AMPUTATION

SANJAY JAIN
Medical Officer, PHC Udaipur 481 662, India.

Author adds on extensive variable expression of congenital amputation of hand. A bilateral congenital hand amputation with well developed typical, non-functional, vestigial remnant "nubbins" noted. Radiograph revealed co-elation of all metacarpal as well as all carpal bones. Perhaps this was the first such reported case of bilateral congenital hand amputation from India.

INTRODUCTION

Congenital amputation is also known as congenital transverse deficiency, terminal transverse absence, transverse melia, transverse arrest, terminal absence, failure of development etc. it is defined as a failure of formation of parts in which there is complete absence of part distal to some point, producing amputation like stump. Most transverse deficiencies (98%) are unilateral and most common level is the upper third of the forearm followed by mid carpal level. There is no particular sex predilection, no particular established cause, no genetic basis, not occur in association with malformation syndromes (Mark and Phillip 1992).
CASE REPORT
The Udaysinh Narsinh a 35 year old male came to General Hospital Godhra (India) of February 2001 for getting a physical disability certificate.

On examination, he was found to have typical, non-functional vestigial representing remnant of fingers and thumb in both hands (Fig. 1). Both forearm were well developed with normal movement at elbow, wrist. Sensation was intact with intact pinprick bleeding through "nubbins".

X-rays showed fusion of all metacarpals as well as carpal bone. Complete co-elation of distal carpal row and partial co-elation of proximal carpal row with fused metacarpals were noted. It was more marked in the right hand and no carpal bone was identifiable. It was very difficult to judge radiologically whether the level of amputation was through hand or through wrist. After correlating it with clinical examination, the level of amputation was decided at the metacarpal level. Radio-carpal, radio-ulnar and elbow joint was normal (Fig. 2).

Fig. 1: Morphology of congenial transverse deficiency through hand bilaterally. Note typical nubbins.

Fig. 2: Radiographs revealed coalition of all metacarpal as well as all carpals, which was more marked in right hand.

DISCUSSION

The International Federation of Societies for Surgery of the Hand (IFSSH 1983) classified congenital amputation into group IA : Failure of formation of parts - Transverse arrest.

Bilateral transverse arrest is very rare. It is one of the rarest varieties in congenital anomaly in orthopaedics. Almost all transverse arrests (98%) are unilateral (Mark and Phillip 1992). All the 27 cases of transverse deficiencies of Ogino and Saiton (1987) series were unilateral. Reed (1991) revealed radiological feature of 15 cases of transverse deficiency of forearm and not found bilateral case. Cheng et al (1987) also not found bilateral case of transverse arrest through hand.

The incidence of congenital amputation is unknown and appears to vary from one community to another and from one country to another. The reason for it is usually unknown. It is not familial and definitely not inherited (Lamb and Scott 1981). I also found such sporadic evidence. A local study in Edinburgh (UK) over a five-years period (1962 to 1966, inclusive) of 52,000 consecutive live births showed an incidence of 1 per 3000 Rogala et al 1974). Wynne-Davis and Lamb (1985) reported the incidence of transverse deficiencies to be 6.8 per 10,000 Mittal et al (1993) investigated a rural population of 50,055 in their homes in a door-to-door survey in Patiala (India). They noted 4 cases of congenital amputation of upper limb (1 male and 3 females) out of 113 congenital orthopaedic anomalies.

There is no particular sex predilection for congenital transverse arrest (Mark and Phillip 1992). The sex ratio was 1:3 in Patiala series of Mittal (1993). Reed (1991) reported radiographic feature of congenital transverse deficiency of the forearm in 15 cases (4 boys and 11 girls) and found same sex ratio as Mittal’s Patiala series. Jain (1994) analyzed 200 patients with congenital limb deficiency that attended the Artificial Limb Center, Pune between 1984-1990. He found transverse deficiency of upper limb to be more common in female and in lower limb, in male.

The most common level of transverse arrests to be the forearm seconded by the transverse arrest through wrist (Mark and Phillip 1992). In the forearm commonest side is proximal third of the forearm. Cheng et al (1987) noted equal distribution of transverse arrest through hand and wrist.

Cheng et al (1987) classified 578 cases of the congenital upper limb anomalies with the International Federation of Societies for Surgery of the Hand (IFSSH) after a 10 years of study. They encountered difficulties when trying to differentiate between the transverse arrest atypical cleft hand and brachydactyly. There was an obvious gap in knowledge of the pathogenesis of these anomalies and it is difficult at present to settle this problem rationally.

There are few indications for surgical intervention in transverse deficiencies of the upper extremity. Amputation of non-functional digital remnants often is performed for psychological and cosmetic benefits. Prosthetic treatment in adult with hand amputation is not useful and somewhat more controversial.

REFERENCES

1.Cheng JCY, Chow SK, Leung PC. Classification of 578 cases of congenital upper limb anomalies with the IFSSH system - 10 years experience. J Hand Surg 1987; 12 : 1055-60.

2.Government of India : Guidelines for evaluation of handicapped persons. Gazette notification vides no 4-2/83 HW III: 6th August 1986.

3.Jain SK. A study of 200 cases of congenital limb deficiencies. Prosthet Orthop Int 1994; 18 (3) : 174-9.

4.Lamb DW, Scott H. Management of congenital and acquired amputation in children. Orthop Clin North Am 1981; 12 (4) : 977-94.
5.Mark TJ, Phillip EW. Congenital anomalies of hand. In : Campbell’s operative orthopaedic (Ed. Crenshaw AH). Mosby-year Book, Inc St Louis. 1992; 5 : 3353-3425.

6.Mittal RL, Sekhon AS, Singh G, Thakral H. The prevalence of congenital orthopaedic anomalies in a rural community. Int Orthop 1993; 17 (1) : 11-2.
7.Ogino T, Saitou Y. Congenital constriction band syndrome and transverse deficiency. J Hand Surg (Br) 1987; 12 (3) : 343-8.

8.Reed MH. Radiologic features of congenital transverse deficiencies of the forearm. Can Assoc Radial J 1991; 42 (5) : 345-8.

9.Rogala ET, Wynne-Davies R, Littlejohn A. Congenital limb anomalies : Frequency and etiological factors. J Med Genet 1974; 11 : 221.

10.Swanson AB, Swanson G, Tada K. A classification for congenital limb-malformation. J Hand Surg 1983; 8 : 693-702.

11.Wynne-Davies R, Lamb DW. Congenital upper limb anomalies : an etiologic grouping of clinical, genetic and epidemiologic data from 382 patients with "absence" defects, constriction bands, polydactylies and syndactylies. J Hand Surg 1985; 10 : 958.

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Fig. 1: Morphology of congenial transverse deficiency through hand bilaterally. Note typical nubbins.	Fig. 2: Radiographs revealed coalition of all metacarpal as well as all carpals, which was more marked in right hand.