Novel bilateral symmetrical congenital transverse upper and lower limb deficiencies in siblings in Ethiopia: two case...

Transverse congenital limb deficiency is a common limb deficiency where there is normal limb development until a certain point, beyond which no anatomical structure exists. Typically, this presents as an isolated and spontaneous abnormality as a result of arrest during limb bud development. Transverse bilateral deficiency in both upper and lower limbs is not well described.

We report the cases of two female Ethiopian amhara siblings, aged 6 years and 5 months, respectively, from Ethiopia with similar transverse bilateral upper and lower limb deficiencies. The sisters were born from the same parents and have similar phenotypic presentations. Neither of them have other syndromic features or systemic manifestations. The siblings are currently on follow-up and are receiving assistance by specialist orthotists, who are working to improve walking and also providing adaptive equipment to facilitate self-care and feeding.

The relationship of the patients and the similarity of phenotypical presentations suggests a strong genetic link.