Craniofacial Anomalies and Malformations in Respiratory Chain Deficiency

American Journal of Medical Genetics - Seminars in Medical Genetics

Volumn 66, Issue 4, 1996, Pages 457-463

  Cormier Daire, V ^a   Rustin, P ^a   Rotig A ^a   Chretien D ^a   Le Merrer, M ^a   Belli, D ^c   Le Goff, A ^b   Hubert, P ^a   Ricour, C ^a   Munnich, A ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b HÔPITAL DU BOCAGE   (France)

^c Hopital Cantonal   (Switzerland)

Author keywords

Facial anomalies; Malformations; Prenatal growth failure; Respiratory chain deficiency

Indexed keywords

MITOCHONDRIAL ENZYME;

ARTICLE; CASE REPORT; CHILD; CRANIOFACIAL MALFORMATION; ENZYME DEFICIENCY; FEMALE; GROWTH RETARDATION; HUMAN; INFANT; MALE; PRENATAL DISORDER; PRIORITY JOURNAL; RESPIRATORY CHAIN;

ABNORMALITIES, MULTIPLE; CRANIOFACIAL ABNORMALITIES; ELECTRON TRANSPORT; ENZYMES; FAILURE TO THRIVE; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; LYMPHOCYTES; MALE; MITOCHONDRIA; MITOCHONDRIA, LIVER; MUSCLE, SKELETAL; SKIN;

EID: 0030445566     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19961230)66:4<457::AID-AJMG15>3.0.CO;2-T     Document Type: Article

References (11)

1. Chrétien D, Bourgeron T, Rötig A, Munnich A, Rustin P (1990): The measurement of the rotenone sensitive NADH cytochrome c reductase activity in mitochondria isolated from minute amount of skeletal muscle. Biochem Biophys Res Commun 173:26-33.
2. Dubowitz V, Brooke MH (1973): "Muscle Biopsy: A Modern Approach." Philadelphia: W.B. Saunders, 475 pp.
3. Hoek JB (1994): Mitochondrial energy metabolism in chronic alcoholism. Curr Top Bioenerg 17:197-241.
4. Hoffmann G, Charpentier C, Mayatepek E, Mancini J, Leichsenring M, Gibson KM, Divry P, Hrebicek M, Lehnert W, Sartor K, Trefz FK, Rating D, Bremer HJ, Nyhan WL (1993): Clinical and biochemical phenotype in 11 patients with mevalonic aciduria. Pediatrics 91:915-921.
5. Jaeken J, Stibler H, Hagberg B (1991): The carbohydrate-deficient glycoprotein syndrome. Acta Paediatr Scand [Suppl] 375:5-71.
6. Jones KL, Smith DW (1973): Recognition of the fetal alcohol syndrome in early infancy. Lancet 11:999-1001.
7. Passarge E, McAdams AJ (1967): Cerebro-hepato-renal syndrome: A newly recognized hereditary disorder of multiple congenital defects including sudanophilic leukodystrophy, cirrhosis of the liver and polycystic kidneys. J Pediatr 71:691-697.
8. Robinson HB, MacMillan H, Petrova-Benedict R, Sherwood G (1987): Variable clinical presentation in patients with defective E1 component of pyruvate dehydrogenase complex. J Pediatr 111:525-533.
9. Rustin P, Chrétien D, Bourgeron T, Wucher A, Saudubray JM, Rötig A, Munnich A (1991): Assessment of the mitochondrial respiratory chain. Lancet 338:60-66.
10. Smith DW, Lemli E, Opitz JM (1964): A newly recognized syndrome of multiple congenital anomalies. J Pediatr 64:210-217.
11. Spranger J, Benirschke K, Hall JG, Lenz W, Lowry RB, Opitz JM, Pinsky L, Schwarzacher HG, Smith DW (1982): Errors of morphogenesis: Concepts and terms. J Pediatr 100:160-165.