Severe thoracic dystrophy with striking micromelia, abnormal osseous development, including the spine, and multiple visceral anomalies.

Abnormalities, Multiple/diagnostic imaging Anus, Imperforate Bone and Bones/abnormalities Dwarfism/diagnostic imaging Ellis-Van Creveld Syndrome/diagnosis Female Femur/diagnostic imaging Fibula/diagnostic imaging Genitalia, Female/abnormalities Heart Defects, Congenital Humans Infant, Newborn Lung/abnormalities Radiography Ribs/abnormalities Skull/diagnostic imaging Tibia/diagnostic imaging