Osteogenesis imperfecta is a genetic disorder characterized by low bone mass, decreased
bone strength, increased bone fragility, and shortened stature. Autosomal dominant …

Abstract Background Osteogenesis Imperfecta (OI) is a rare genetic disorder involving bone
fragility. OI patients typically suffer from numerous fractures, skeletal deformities, shortness …

Genetic heterogeneity, high burden and the paucity of genetic testing for rare diseases
challenge genomic healthcare for these disorders in India. Here we report our experience …

We report on 314 fetal cases from 297 unrelated families with skeletal dysplasia evaluated
in the postmortem period from 2000 to 2017 at a single clinical genetics center in İstanbul …

Acromesomelic dysplasia type Maroteaux (AMDM, OMIM# 602875) is an autosomal
recessive disorder characterized by severe short stature, shortened middle and distal …

Objectives To evaluate the relationship between prenatal ultrasonography (USG) and fetal
autopsy findings. Methods Among 453 pregnancy terminations performed because of fetal …

Objective To analyze the value of prenatal ultrasound and molecular testing in diagnosing
fetal skeletal dysplasia (SD). Methods Clinical data, prenatal ultrasound data, and molecular …

Background Genetic skeletal disorders (GSDs) are clinically and genetically heterogeneous
with more than 350 genes accounting for the diversity of disease phenotypes. Prenatal …

Spondylo-megaepiphyseal-metaphyseal dysplasia (SMMD) is an autosomal recessive
skeletal dysplasia, characterized by disproportionate short stature with a short and stiff neck …

Постоянно меняющаяся информация о генетической природе несовершенного
остеогенеза (НО), новые подходы к классификации и диагностике, возрастающий …