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Congenital anomalies of digits - a clinical-epidemiological study of 301 patients
Maria Claudia Jurcă1, Marius Bembea, Mircea Ioan Şandor
1Department of Preclinical Disciplines, Faculty of Medicine and Pharmacy, University of Oradea, Romania; claudiajurca70@yahoo.com; Department of Genetics, "Dr. Gavril Curteanu" Municipal Hospital, Oradea, Romania; bembea13@yahoo.com.
Insights
Congenital anomalies of digits (CAD) affect 1 in 800 newborns, with polydactyly being most common. Most cases are isolated, but some link to genetic syndromes, impacting genetic counseling.
Area of Science:
- Medical Genetics
- Developmental Biology
- Epidemiology
Background:
- Congenital anomalies of digits (CAD) encompass a spectrum of malformations, ranging from isolated digit abnormalities to complex limb malformations and syndromic presentations.
- Understanding the morphological, genetic, and epidemiological basis of CAD is crucial for diagnosis and management.
Purpose of the Study:
- To provide a comprehensive overview of congenital anomalies of digits (CAD).
- To analyze CAD based on morphological, genetic, and epidemiological factors.
Main Methods:
- Retrospective analysis of 301 patients diagnosed with CAD.
- Classification of anomalies according to the Swanson criteria, including adactyly, oligodactyly, syndactyly, symphalangism, polydactyly, macrodactyly, amniotic bands syndrome, and generalized skeletal anomalies.
Main Results:
- The prevalence of CAD was determined to be 1:800 live newborns in Bihor County, Romania (1984-2018).
- Polydactyly was the most frequent anomaly, followed by syndactyly, brachydactyly, adactyly, and oligodactyly.
- Upper extremities were more commonly affected than lower extremities (4:1 ratio); 64% of CAD cases were isolated, 14% involved other limb anomalies, and 22% were associated with genetic syndromes.
Conclusions:
- This extensive study provides valuable epidemiological data on CAD, facilitating comparisons with global findings.
- The findings can enhance knowledge regarding CAD and inform improvements in genetic counseling strategies for affected families.
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.
