Compound Heterozygous Variants in the Gene Associated with Skeletal Ciliopathies.

Ciliopathies are rare congenital disorders caused by defects in the structure or function of cilia, which can lead to a wide range of clinical manifestations. Among them, a subset known as skeletal ciliopathies exhibits significant phenotypic overlap and primarily affects skeletal development. This group includes several syndromes with overlapping but distinct clinical features, such as short-rib polydactyly syndrome (SRPS), Jeune asphyxiating thoracic dystrophy (JATD), Mainzer-Saldino syndrome (MZSDS), and cranioectodermal dysplasia (CED), also called Sensenbrenner syndrome.

Relevance of microbiological cultures of cord blood and placental swabs in the rapid diagnosis of preterm newborn infection due to : A case report.

() is a Gram-positive bacterium causing listeriosis, a rare but severe foodborne infection, particularly impactful during pregnancy. Maternal-fetal transmission can lead to adverse fetal outcomes, yet symptoms in mothers may be nonspecific, delaying intervention. Despite the severity, the mechanisms of vertical transmission remain unclear.