Profile of congenital transverse deficiencies among cases of congenital orthopaedic anomalies

Journal of Orthopaedic Surgery, Jun 2002 by Jain, Sanjay, Lakhtakia, P K

ABSTRACT

The authors showed the data of congenital amputation in 36 cases among the physically handicapped individuals (who attended a district level hospital for the purpose of obtaining a handicap certificate) during the period from 1 January 1999 to 31 December 2000.

Out of 3,550 individuals, we found 612 with congenital orthopaedic anomalies, which accounted for 17.2%. Of these 612 individuals, we noted 36 cases with congenital amputation (amputation through digits and toes were not included). Both unilateral and bilateral congenital amputations were much more common in the upper extremity as compared to lower extremity. Not a single case of simultaneous upper and lower extremity involvement was seen. The most common transverse deficiency in the upper limb was through the forearm, and in the lower limb it was through the foot. Congenital amputation was common in males with a gender ratio of 3.5:1. Left limb involvement was twice as much as right limb

involvement, and it was common in both sexes. Bilateral limb involvement was seen only in males.

Key words: congenital orthopaedic anomaly, congenital transverse deficiency, handicapped profile

INTRODUCTION

Congenital transverse deficiency is a failure of formation of parts, in which there is complete absence distal to some point, producing an amputation like stump. It is also known as congenital amputation, failure of development, terminal absence, transverse melia, transverse arrest or terminal transverse absence.

Most congenital amputations are unilateral with no genetic basis and no particular established cause. Congenital amputation, being a disruption rather than a malformation, does not occur in association with malformation syndrome (Mark and Phillip 1992). The purpose of this study is to present a profile of the cases of congenital amputations encountered in Godhra India in a sporadic survey.

MATERIALS AND METHODS

We examined 3,550 cases who attended the General Hospital in Godhra, India for the purpose of obtaining a physically handicapped certificate. 36 cases of congenital transverse deficiencies were examined, which comprised 5.9% of the 612 cases of congenital orthopaedic anomalies. Amputation through digits and toes were not included.

All cases were subjected to a thorough clinical and radiological examination. Patients with transverse deficiency usually had a slightly bulbous, well-padded stump. In more distal deficiencies rudimentary, vestigial digital 'nubbins' are common. One case of congenital forearm transverse deficiencies through the mid-third section had a cobra-hood appearance, in which an eye representation of nubbin was given. This was associated with dislocation of the superior radioulnar joint.

Radiologically well-developed metacarpal hand was not associated with nubbins; whereas tapered metacarpal hand was usually associated with well-- developed nubbins. Congenital forearm transverse deficiencies radiologically showed varieties of pictures, especially at proximal one-third level. Apart from radio-ulnar synostosis and dislocation of radial head, we noted champagne-glass ulnar appearance, inverted L shaped radius, crossed radius - ulna, boat shaped ulna, and funnel shaped ulna etc. Congenital wrist transverse deficiencies always showed partial coalition of proximal carpal with distal carpal row or with radius or ulna. In one case all carpals were fused.

In almost all cases of congenital hand transverse deficiencies, the severity of suppression was from ulnar aspect to radial aspect. In one case it was from radial to ulnar aspect, which was a contrast to the Maisel's suppression theory.

Congenital foot transverse deficiencies were common at the fore foot level. In three cases, it was through the fore foot and in one case it was at the hind foot. Hind foot transverse deficiencies were associated with ipsi-lateral constriction band syndrome in the fingers and in the leg. Bilateral congenital foot transverse deficiencies were associated with contralateral asymmetrical forefoot involvement. Severity of suppression increased from medial to lateral aspect of the foot. Radiologically these congenital foot transverse deficiencies showed coalition of tarsal with metatarsals. Also atypical fenestrated metatarsal was encountered in three of the cases.

Below-elbow absence is nearly always through the upper third of the forearm with the proximal radius and ulna present. There is usually good flexion and extension of the elbow. There is never any pain in the stump, and as with all congenital terminal transverse absences there is no phantom sensation to the absent portion either.

Two cases of congenital amputation through elbow are noted. Congenital amputation through the wrist usually occurs at mid-carpal level and is associated with good radio-carpal movement.

Transverse forearm deficiency occurrence was equal in both sexes and transverse foot deficiency was noted only in males. Congenital transverse deficiency was observed in 16 forearms; in 12 cases it was through the upper third of the forearm, and in the remaining 4 cases it was through the middle third (3 cases) and lower third (one case).