Differential diagnosis of syndromes with abnormal respiration (tachypnea-apnea).
Abnormal respiration with episodic tachypnea-apnea can occur in several syndromes (particularly, the Rett, Joubert, Mohr and Dandy-Walker syndromes). These syndromes are briefly reviewed. In the Rett syndrome, in contrast to in most other genetically determined syndromes, the onset of breathing abnormalities does not occur in the neonatal period.
Boltshauser
E
E
Department of Pediatrics, University of Zürich, Switzerland.
Lange
B
B
Dumermuth
G
G
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D001049:Apnea / Q000150:complications / Q000175:diagnosis / Q000503:physiopathology; D001927:Brain Diseases / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D003616:Dandy-Walker Syndrome / Q000150:complications / Q000175:diagnosis* / Q000503:physiopathology; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D006849:Hydrocephalus / Q000175:diagnosis*; D007223:Infant; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D008297:Male; D009958:Orofaciodigital Syndromes / Q000150:complications / Q000175:diagnosis* / Q000503:physiopathology; D012120:Respiration Disorders / Q000150:complications / Q000175:diagnosis* / Q000503:physiopathology; D013577:Syndrome