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- W4229454014 abstract "Genetic skeletal disorders (GSDs) are clinically and etiologically heterogeneous group of disorders caused by abnormal growth and development of bone and/or cartilaginous tissues. Timely and accurate diagnosis is essential for prevention of significant comorbidities. In this study demographic, parental, prenatal and natal characteristics, and postnatal diagnostic distribution along with follow-up processes of 104 individuals with the finding of short femur detected in routine prenatal ultrasonography were evaluated. Of 104 patients, 19 (18.2%) were medically terminated, 12 (11.6%) were deceased during follow-up and 73 (70.2%) were still under follow-up. Diagnostic distribution of 104 patients was as follows: 77 (74%) had GSD, eight (7.7%) had chromosomal disorder, seven (6.7%) were completely normal, and 12 (11.5%) had no definite diagnosis. Long-term follow up evaluation contributed to clinical diagnosis in four patients. When grouped according to Nosology and Classification of GSDs: 2019 revision, the most frequent (n = 30, 38.5%) group was FGFR3 chondrodysplasia group, followed by Type 2 collagen group (n = 7, 9%), and Osteogenesis imperfecta and decreased bone density group (n = 5, 6.4%). The finding of prenatally detected short femur represents a group of diverse diagnosis with heterogeneous etiology. GSDs are the most common etiology among fetuses with short extremity." @default.
- W4229454014 created "2022-05-11" @default.
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- W4229454014 date "2022-05-10" @default.
- W4229454014 modified "2023-10-14" @default.
- W4229454014 title "Diagnostic distribution and postnatal evaluation of prenatally detected short femur: A single center experience" @default.
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- W4229454014 doi "https://doi.org/10.1002/ajmg.a.62769" @default.
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