An atypical case of Edwards syndrome in a pediatrician’s practice

Abstract

Introduction. Edwards syndrome is characterized by multiple congenital malformations and peculiar phenotypic signs. The presence of important phenotypic signs, including manifestations of the musculoskeletal system in almost 90% of newborns with this pathology allows improving the chances of early diagnosis of chromosomal diseases, while their absence cannot deny the presence of this disease. A genetic examination is necessary to clarify the diagnosis. The purpose of the description of the clinical case was an atypical course of a previously known disease. Case description. There is presented a description of a clinical case of a newborn with Edwards syndrome, which was observed from birth. Owing to the introduction into clinical practice of the method of prenatal (ultrasound and biochemical) screening at the time of 16/3 weeks, an increased genetic risk for the development of chromosomal abnormalities and /or congenital malformations in the fetus was revealed according to the age factor of the mother (42 years). Postnatally, the birth of a newborn with a non-classical manifestation of the phenotype of Edwards syndrome caused difficulties in making a diagnosis. The genetic research made it possible to establish trisomy 18, meiotic non-divergence, Edwards syndrome, trisomal form (Q91.0) in the infant during the first month who died at the age of 2 months. Comparison of clinical and pathoanatomical diagnosis allowed presenting the completeness of clinical manifestations of this disease. The presented clinical example demonstrates the important role of pre- and neonatal screening in the early diagnosis of chromosomal diseases and emphasizes the importance of continuous medication support, including work with parental stress and parental support. An atypical manifestation of a chromosomal disease does not deny its presence and a genetic study is necessary to clarify the diagnosis.