Central apneas in a case of Crisponi syndrome

Sleep Medicine

Volumn 9, Issue 6, 2008, Pages 703-704

  Della Marca, Giacomo ^a   Barone, Giuseppe ^a   Vollono, Catello ^a,b   Dittoni, Serena ^a   Vasta, Isabella ^a   Timpani, Giuseppina ^c   Crisponi, Giangiorgio ^d   Zampino, Giuseppe ^a  

^a CATHOLIC UNIVERSITY   (Italy)

^b IRCCS FONDAZIONE DON CARLO GNOCCHI   (Italy)

^c Ospedale di Reggio Calabria   (Italy)

^d UNIVERSITY OF CAGLIARI   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

OXYGEN;

APGAR SCORE; APNEA; AUTONOMIC DYSFUNCTION; AUTOSOMAL RECESSIVE DISORDER; BRAIN DEVELOPMENT; BREATHING MECHANICS; CAMPTODACTYLY; CASE REPORT; CHILDBIRTH; CRISPONI SYNDROME; FACE MALFORMATION; FEMALE; GENETIC ANALYSIS; HUMAN; HYPEREKPLEXIA; HYPERTHERMIA; LETTER; MALFORMATION SYNDROME; MUSCLE CONTRACTION; MUSCLE DISEASE; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; OXYGEN SATURATION; PHYSICAL EXAMINATION; POLYSOMNOGRAPHY; PRIORITY JOURNAL; RESPIRATION CONTROL; RISK ASSESSMENT; SLEEP STAGE; SUDDEN DEATH;

FEMALE; HUMANS; INFANT; RECEPTORS, CYTOKINE; SLEEP APNEA, CENTRAL; SPASM; SYNDROME;

EID: 48449101785     PISSN: 13899457     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.sleep.2007.08.003     Document Type: Letter

References (5)

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2. Crisponi L., Crisponi G., Meloni A., Toliat M.R., Nurnberg G., Usala G., et al. Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1. Am J Hum Genet 80 5 (2007) 971-981
3. Nannenberg E.A., Bijlmer R., Van Geel B.M., and Hennekam R.C. Neonatal paroxysmal trismus and camptodactyly: the Crisponi syndrome. Am J Med Genet A 133 1 (2005) 90-92
4. Glotzbach S.F., Baldwin R.B., Lederer N.E., Tansey P.A., and Ariagno R.L. Periodic breathing in preterm infants: incidence and characteristics. Pediatrics 84 5 (1989) 785-792
5. Cruccu G., and Deuschl G. The clinical use of brainstem reflexes and hand-muscle reflexes. Clin Neurophysiol 111 3 (2000) 371-387