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Phocomelia is a congenital condition that involves malformations of human arms and legs which result in a flipper-like appendage. [1] [2] A prominent cause of phocomelia is the mother being prescribed the use of the drug thalidomide during pregnancy; however, the causes of most cases are to be determined. [2]
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external causes during pregnancy (thus not inherited), e.g. via amniotic band syndrome; teratogenic drugs (e.g. thalidomide, which causes phocomelia) or environmental chemicals; ionizing radiation (nuclear weapons, radioiodine, radiation therapy) infections; metabolic imbalance
Roberts reported a disease that was characterized by phocomelia, cleft lip, cleft palate, and a protrusion of the intermaxillary region in three siblings of an Italian couple who were first cousins, which made Roberts syndrome acquisition more likely for their children due to the disease's autosomal recessive nature.
Causes of vacuolar interface dermatitis ; Main conditions [1] Characteristics Micrograph Photograph Generally/Not otherwise specified Typical findings, called "vacuolar interface dermatitis": [1] Mild inflammatory cell infiltrate along the dermoepidermal junction (black arrow in image) Vacuolization within the basal keratinocytes (white arrow ...
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This syndrome is caused by mutations in the establishment of cohesion 1 homolog 2 gene. [3]This gene is located on the short arm of chromosome 8 (8p21.1). Mutations in this gene also cause Roberts/SC phocomelia syndrome.