Introduction. Limb abnormalities are a heterogeneous group of congenital malformations defined as an incomplete development of a fetus limb during pregnancy. Limb abnormalities are spread worldwide, also in our country, with potentially severe complications in terms of patient functionality and aesthetic appearance. In Romania, there is not enough data regarding the impact of these abnormalities.
The objectives of this study were to analyze the epidemiological, clinical, and genetic data and to evaluate the psychosocial consequences of patients with limb abnormalities in Bihor County, Romania.
Materials and methods. We performed a retrospective study on a cohort of 105 patients with congenital limb malformations (CLM), selected using the database of the Bihor Regional Center for Medical Genetics.
Results. Most patients (48) presented only upper limb anomalies. Twenty-nine patients had lower limb anomalies and 28 suffered from both upper and lower limb anomalies. Polydactyly was the most common upper limb anomaly, and complete syndactyly was found in only one case. Syndactyly was the most common lower limb anomaly. There was only one case of phocomelia. Thirty-three cases were diagnosed in the context of a genetic syndrome.
Conclusions. The most commonly diagnosed cases were the upper limb anomalies. Monogenic etiology was the most frequently identified (32 cases) and polygenic was the rarest cause (3 cases).
Keywords: congenital malformation, limb, genetic anomalies
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