We report the progressive otic capsule demineralization around the membranous labyrinth
and facial nerve in an adult patient with osteogenesis imperfecta tarda. Whereas the initial CT …

Septo-optic nerve dysplasia is a rare congenital anomaly with optic nerve hypoplasia,
pituitary hormone deficiencies and midline developmental defects of the brain. The clinical …

Background Congenital anomalies (CAs) increase the risk of death during infancy and
childhood. This study aimed to evaluate the accuracy of using death certificates to estimate the …

Objectives To provide contemporary estimates of the prevalence of microcephaly in Europe,
determine if the diagnosis of microcephaly is consistent across Europe, and evaluate …

Background Surveillance of congenital anomalies is important to identify potential teratogens.
Methods This study analysed the prevalence of 61 congenital anomaly subgroups (…

The aim of this study was to examine the prevalence of trisomies 18 and 13 in Europe and
the prevalence of associated anomalies. Twenty‐five population‐based registries in 16 …

This study examines trends and geographical differences in total and live birth prevalence
of trisomies 21, 18 and 13 with regard to increasing maternal age and prenatal diagnosis in …

Oculo-auriculo-vertebral spectrum is a complex developmental disorder characterised
mainly by anomalies of the ear, hemifacial microsomia, epibulbar dermoids and vertebral …

Meckel–Gruber Syndrome is a rare autosomal recessive lethal ciliopathy characterized by
the triad of cystic renal dysplasia, occipital encephalocele and postaxial polydactyly. We …

Study question What are the long term trends in the total (live births, fetal deaths, and terminations
of pregnancy for fetal anomaly) and live birth prevalence of neural tube defects (NTD) …