Multiple ankyloses, facial anomalies, and pulmonary hypoplasia associated with severe antenatal spinal muscular atrophy.
Two unrelated patients with multiple ankyloses, pulmonary hypoplasia, and characteristic facies syndrome had definite evidence of severe spinal muscular atrophy of prenatal onset. In addition, there were specific changes in the adrenal cortex.
D000844:Ankylosis / Q000151:congenital*; D001176:Arthrogryposis / Q000175:diagnosis* / Q000473:pathology; D001415:Back; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008168:Lung / Q000002:abnormalities*; D008297:Male; D009132:Muscles / Q000473:pathology; D009133:Muscular Atrophy / Q000151:congenital* / Q000473:pathology; D013116:Spinal Cord / Q000473:pathology