Year: 2026
Type: article
Study design: Observational Study
Abstract: Congenital upper limb anomalies (CULA) are common, but the actual magnitude of the problem within the community remains undetermined due to a lack of a registry system. Our study aimed to determine the epidemiology of CULA, its syndromic associations with other systems, to identify and categorize upper limb anomalies according to the International Federation of Societies for Surgery of the Hand (IFSSH) classification, to study the inheritance pattern of the disease, and to investigate the association of risk factors during the antenatal period. This ambispective study was conducted at a tertiary care center from January 2022 to July 2024. Exclusion criteria included stillbirths, vascular malformations, congenital peripheral nerve disorders, and birth brachial plexus injuries. Comprehensive demographics, antenatal, perinatal, and postnatal histories, as well as family pedigrees, were documented. Each CULA case was classified according to the IFSSH guidelines, and statistical analysis was performed using Stata 18.0. There were 148 cases, with 5 dropouts, with a mean age of presentation being approximately 7 years, with approximately 58% males and approximately 42% females. The ratio of bilateral:right:left was 3.8:1.7:1. The most common non-hand involvement was in the foot, with the ratio of bilateral:right:left being 13.4:4.5:1. The mean birth weight was 2.75 kg, and the mothers' mean age at the time of birth was 26 years. There were three cases born to a consanguineously married couple, and four cases were detected on ultrasonography, with no significant correlation. There was positive familial correlation in IFSSH II, III, and VI categories, with p-values of 0.037, 0.001, and 0.026, respectively. The most common occurrence was seen in the IFSSH II category (98 cases) and the least in the IFSSH VI category (7 cases). A substantial gap exists in the literature regarding the epidemiology and registry systems for CULA, rendering the full extent of the issue within communities ambiguous. However, IFSSH II is the most common anomaly with a varying pattern. Positive family history is commonly observed in IFSSH II, III, and VI groups, and syndromic associations are more prevalent in groups I and VII.
Authors: Nandini S. Tanwar, Raj K. Manas
Institution: All India Institute of Medical Sciences
Language: English
Subfield: Developmental Biology
Domain: Life Sciences
Open Access status: diamond
OpenAlex ID: W7127304363