Neonate with congenital transverse deficiency of hand | Malik | Pakistan Journal of Medical Sciences Old Website

Neonate with congenital transverse deficiency of hand

Sajid Malik, Hafiza Fizzah Riaz


Congenital transverse limb deficiency is a rare anomaly which manifests itself as aplasia/hypoplasia of the distal structures of limb in transverse axis while the proximal limb remains relatively normal. There is a wide phenotypic variability; the minor type appears as unilateral reduction through the autopod/digits while the extreme forms are characterized by tetramelic transverse imputations through the stylopod. Here, we present the clinical detail and follow up of a male neonate with unilateral transverse deficiency of right hand. The fingers were completely omitted in the affected autopod while a single bead-like nubbin was attached at the radial aspect of the truncated hand. Palm was also reduced and tri-radius was not recognizable. In the roentgenographs, humerus appeared hypoplastic, radius and ulna were dysplastic and proximally fused, and all the digital elements were absent. There was no involvement of any other organ system. Transverse limb defects put a tremendous impact on the affected subject and their families as complete recovery and management through surgery is not possible. Hence, the measures to reduce the prevalence and etiology to these defects are strongly recommended.

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