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In 1881 British opthalmologist Warren Tay made an unusual observation. He reported a cherry-red spot on the retina of a one-year-old patient, a…
Tay-Sachs DiseaseCongenital DisordersHeredityLap-Chee Tsui is a geneticist who discovered the cystic fibrosis (CF) gene, and his research team sequenced human chromosome 7. As the location of…
PeopleTsui, Lap-CheeCystic FibrosisReproductionBiographyJohn Hilton Edwards first described the symptoms of the genetic disorder known as Trisomy 18 - one of the most common forms of trisomy, which occurs…
TrisomyFetusCongenital DisordersHuman DevelopmentThe New York Appellate Court ruled on 11 December 1977 in favor of Steven and Hetty Park and against Herbert Chessin for the wrongful life of the…
LawWrongful lifeReproductionCongenital DisordersbioethicsThe Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene was identified in 1989 by geneticist Lap-Chee Tsui and his research team as the…
Cystic FibrosisReproductionCongenital DisordersHuman DevelopmentIn 1914 Albert Niemann, a German pediatrician who primarily studied infant metabolism, published a description of an Ashkenazi Jewish infant with…
Niemann-Pick DiseasesHuman DevelopmentCongenital DisordersVACTERL association is a term applied to a specific group of abnormalities involving structures derived from the mesoderm. Although the defects of…
VATER syndromeVACTERL associationCongenital DisordersThe Supreme Court of California reversed the Superior Court of Fresno County's decision to dismiss the Turpins' claims in the case Turpin v. Sortini…
LawWrongful lifeReproductionCongenital DisordersbioethicsThe spinal column is the central structure in the vertebrate body from which stability, movement, and posture all derive. The vertebrae of the spine…
Congenital, Hereditary, and Neonatal Diseases and AbnormalitiesReproductionVertebratesCongenital DisordersIn the US, one in 1000 births is affected by neural tube defects (NTD). A neural tube defect is a birth defect involving the malformation of body…
Neural Tube DefectsReproductionCongenital DisordersHuman Development