Anaesthetic management of an infant with Conradi's syndrome
Mehmet Hascalik
Inonu University, Turgat Ozal Medical Center Department of Anaesthesiology and Reanimation Malatya, Turkey
Search for more papers by this authorTurkan Togal
Inonu University, Turgat Ozal Medical Center Department of Anaesthesiology and Reanimation Malatya, Turkey
Search for more papers by this authorSelim Doganay
Inonu University, Turgat Ozal Medical Center Department of Anaesthesiology and Reanimation Malatya, Turkey
Search for more papers by this authorM. Ozcan Ersoy
Inonu University, Turgat Ozal Medical Center Department of Anaesthesiology and Reanimation Malatya, Turkey
Search for more papers by this authorMehmet Hascalik
Inonu University, Turgat Ozal Medical Center Department of Anaesthesiology and Reanimation Malatya, Turkey
Search for more papers by this authorTurkan Togal
Inonu University, Turgat Ozal Medical Center Department of Anaesthesiology and Reanimation Malatya, Turkey
Search for more papers by this authorSelim Doganay
Inonu University, Turgat Ozal Medical Center Department of Anaesthesiology and Reanimation Malatya, Turkey
Search for more papers by this authorM. Ozcan Ersoy
Inonu University, Turgat Ozal Medical Center Department of Anaesthesiology and Reanimation Malatya, Turkey
Search for more papers by this author
References
- 1 Spranger JW, Opitz JM, Bidder U. Heterogeneity of Chondrodysplasia punctata. Hum Genet 1970; 11: 190–212.
- 2 Moser WH. In: RE Behrman, ed. Nelson's Textbook of Pediatrics, 16th edn. Philadelphia: W.B. Saunders Co., 2000: 383–384.
- 3 Trowitzsch E, Richter R, Eisenberg W et al. Severe pulmonary arterial stenoses in Conradi-Hunermann disease. Eur J Pediatr 1986; 145: 116–118.
- 4 Sztriha L, Al-Gazali LI, Wanders RJ et al. Abnormal myelin formation in rhizomelic chondrodysplasia punctata type 2 (DHAPAT-deficiency). Dev Med Child Neurol 2000; 42: 492–495.
- 5
Kelley RI,
Wilcox WG,
Smith M
et al.
Abnormal sterol metabolism in patients with Conradi-Hunermann-Happle syndrome and sporadic lethal chondrodysplasia punctata.
Am J Med Genet
1999; 83: 213–219.
10.1002/(SICI)1096-8628(19990319)83:3<213::AID-AJMG15>3.0.CO;2-C CAS PubMed Web of Science® Google Scholar
- 6 Holmes RD, Moore KH, Ofenstein JP et al. Lactic acidosis and mitochondrial dysfunction in two children with peroxisomal disorders. J Inherit Metab Dis 1993; 16: 368–380.
- 7 Mortier GR, Messiaen LM, Espeel M et al. Chondrodysplasia punctata with multiple congenital anomalies: a new syndrome? Pediatr Radiol 1998; 28: 790–793.
- 8 Karoutsos S, Lansade A, Terrier G et al. Chondrodysplasia punctata and subglottic stenosis. Anesth Analg 1999; 89: 1322–1323.
- 9 Yorozu T, Takino Y, Shimada M et al. Anesthetic management of a patient with Conradi's Syndrome (chondrodysplasia punctata) – a case report. Masui 1989; 38: 1092–1095.
- 10 Pandit JJ, Evans FE. Anaesthesia in a patient with Conradi's disease. Anaesthesia 1996; 51: 992–993.
Citing Literature
