Severe thoracic dystrophy with striking micromelia, abnormal osseous development, including the spine, and multiple visceral anomalies.
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging*; D001006:Anus, Imperforate; D001842:Bone and Bones / Q000002:abnormalities; D004392:Dwarfism / Q000000981:diagnostic imaging*; D004613:Ellis-Van Creveld Syndrome / Q000175:diagnosis; D005260:Female; D005269:Femur / Q000000981:diagnostic imaging; D005360:Fibula / Q000000981:diagnostic imaging; D005836:Genitalia, Female / Q000002:abnormalities; D006330:Heart Defects, Congenital; D006801:Humans; D007231:Infant, Newborn; D008168:Lung / Q000002:abnormalities; D011859:Radiography; D012272:Ribs / Q000002:abnormalities; D012886:Skull / Q000000981:diagnostic imaging; D013977:Tibia / Q000000981:diagnostic imaging