[Laryngeal atresia in an infant with chondrodysplasia punctata, rhizomelic type].
Laryngeal atresia had to be unexpectedly detected and treated in a newborn baby. The outer appearance with symmetric shortening of humeri and femora and radiological features with epiphysial and extraepiphysial calcifications led to the diagnosis of rhizomelic chondrodysplasia punctata. This disease is described as a peroxisomal disorder with a poor prognosis on the basis of pathophysiological and diagnostic features.
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Kinderklinik St.-Vincenz-Krankenhaus, Paderborn.
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D000015:Abnormalities, Multiple / Q000175:diagnosis; D001238:Asphyxia Neonatorum / Q000175:diagnosis*; D002806:Chondrodysplasia Punctata / Q000175:diagnosis*; D006801:Humans; D007231:Infant, Newborn; D007830:Larynx / Q000002:abnormalities*; D008297:Male
Larynxatresie bei einem Kind mit Chondrodysplasia punctata, rhizomeler Typ.