Congenital anomalies of digits - a clinical-epidemiological study of 301 patients

Abstract

Introduction: Congenital anomalies of digits (CAD) can occur as isolated malformations, in combination with other malformation of the limbs, or as part of a genetic syndrome. The purpose of this work is to provide an overview of CAD, on morphological, genetic and epidemiological basis.

Patients and methods: We conducted a retrospective analysis of a cohort of 301 patients with CAD. Following the Swanson classification, the list of anomalies under study included: adactyly and oligodactyly, syndactyly and symphalangism, polydactyly, macrodactyly, amniotic bands syndrome, and generalized skeletal anomalies.

Results: In Bihor County, Romania, the Department of Medical Genetics recorded 4916 patients with congenital anomalies (2.03% out of 241 601 live newborns) between 1984 and 2018. Of these, 301 (6.1%) patients had CAD. The prevalence of CAD was 1:800 living newborns. The most common CAD were polydactyly, followed by syndactyly, brachydactyly, adactyly and oligodactyly. Upper extremities were four times more frequently affected than lower extremities, while both upper and lower extremities were affected in a quarter of all cases. CAD were isolated in 64% of patients, while 14% were associated with other anomalies of the extremities and 22% were associated with recognized genetic syndromes.

Conclusions: Our study, by its size and the long period of clinical observation, provides opportunities to generalize and compare our data with similar studies, offering the possibility for improved knowledge of the epidemiology of CAD and potential improvements in genetic counseling.