thanatophoric dwarfism

thanatophoric dwarfism

thanatos, Greek, death, phoric, bearing, Chondrodysplasia punctata dwarfism of Conradi-Hünermann An AD form of dwarfism with a 2:1 ♂:♀ ratio, in which the infants are stillborn or die in early infancy Clinical Hydrocephaly, megalocephaly with frontal bossing, chondrodystrophy, narrow thorax with respiratory difficulties, congenital heart disease, hypotonia and hyporeflexia–floppy infant, hypertelorism, 'cloverleaf' skull, saddle nose, marked skeletal abnormalities with shortened deformed 'telephone receiver' long bones, affecting the epiphysis, causing micromelia, altered feet, lenticular opacity, shortened extremities with curved fingers, H or U-shaped vertebrae and pulmonary hypoplasia result in short postnatal survival