Peromelia - congenital transverse deficiency of the upper limb: a literature review and current prosthetic treatment

Abstract

Peromelia or congenital transverse deficiency describes a truncation of the upper limb below various limb levels. Recommendations regarding treatment vary and are mainly based on expert opinions. This paper summarizes the current literature regarding the aetiology, pathogenesis and specifically treatment algorithms for children with peromelia. We performed a non-systematic review of the current literature from MEDLINE/PubMed to obtain comprehensive up-to-date information about peromelia, focusing on current recommendations for the treatment of peromelia (e.g. prosthetic fitting, external stump lengthening). The current literature lacks clear evidence as to whether prosthetic treatment is superior to prosthetic non-usage. However, based on the available studies, children with transradial or transhumeral peromelia should preferably be fitted with passive/cosmetic prostheses at the age between six and 24 months, followed by active/myoelectric devices at the age of 2.5 to four years. It remains controversial whether early myoelectric prosthetic fitting can reduce prosthesis rejection times; however, cognitive readiness and the ability to absolve a guided training programme are seen as important prerequisites for myoelectric fitting. Children with very short stumps may benefit from stump lengthening using external fixators and prosthetic modification. The treatment of children with peromelia generally requires a guided, multidisciplinary team approach. A training programme is essential to optimize individuals' performance in the execution of activities of daily living and decrease rejection risks whenever a myoelectric device is prescribed. Myoelectric fitting should preferably be commenced at no later than four years of age. However, long-term reports on the benefits of prosthetic treatment are still pending.

Keywords: congenital hand difference; congenital hand malformation; peromelia; transverse deficiency; upper limb.

Fig. 1

Two cases involving children with a short stump and below-elbow peromelia are shown. Both of them exhibit rudimentary digits and skin dimples, which can have detrimental effects on hygiene and prosthetic fitting.

Fig. 2

Commonly available (a) passive/cosmetic, (b) active/body-powered and (c) active/myoelectric prostheses are presented (reproduced with permission of Ottobock SE & Co. KGaA.).

Fig. 3

Current myoelectric devices offer different options for terminal grasp, ranging from (a) two finger pinch grip to (b,c) more complex motions of the flexible wrist and finger joints (reproduced with permission of Ottobock SE & Co. KGaA.).

Fig. 4

The myoelectric prosthesis was used for certain activities of daily living among a cohort of 41 children as shown in the graph (reproduced with permission from Egermann et al).