Stüve-Wiedemann syndrome and defects of the mitochondrial respiratory chain

American Journal of Medical Genetics

Volumn 72, Issue 2, 1997, Pages 222-226

  Chabrol, Brigitte ^a   Sigaudy, Sabine ^a   Paquis, Véronique ^b   Montfort, Marie France ^a   Giudicelli, Hélène ^a   Pellissier, Jean François ^a   Millet, Véronique ^a   Mancini, Josette ^a   Philip, Nicole ^a  

^a TIMONE HOSPITAL   (France)

^b UNIVERSITÉ CÔTE D'AZUR   (France)

Author keywords

Abnormal embryogenesis; Defects of the mitochondrial respiratory chain; Hyperthermic episodes; Skeletal anomalies; St ve Wiedemann syndrome

Indexed keywords

MITOCHONDRIAL ENZYME;

ARTICLE; BONE DEVELOPMENT; CASE REPORT; CLINICAL FEATURE; DISORDERS OF MITOCHONDRIAL FUNCTIONS; ENZYME ACTIVITY; HUMAN; MALE; MUSCLE BIOPSY; NEWBORN; PRIORITY JOURNAL; RESPIRATORY CHAIN; SHORT STATURE; SKELETON MALFORMATION; SYNDROME DELINEATION; BONE; CONGENITAL MALFORMATION; FEMALE; GENETICS; METABOLISM; MITOCHONDRIAL MYOPATHY; MULTIPLE MALFORMATION SYNDROME; RADIOGRAPHY; SYNDROME;

ABNORMALITIES, MULTIPLE; BONE AND BONES; FEMALE; HUMANS; INFANT, NEWBORN; MALE; MITOCHONDRIAL MYOPATHIES; SYNDROME;

EID: 0030612874     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/(sici)1096-8628(19971017)72:2<222::aid-ajmg18>3.0.co;2-p     Document Type: Article

References (20)

1. Birch-Machin MA, Shepherd IM, Watmough NS (1989): Fatal lactic acidosis in infancy with a defect of complex III of the respiratory chain. Pediatr Res 25:553-559.
2. Brown GK (1994): Metabolic disorders of embryogenesis. J Inher Metab Dis 17:448-458.
3. Brownell AKW (1988): Malignant hyperthermia: Relationship to other diseases. Br J Anaesth 60:303-308.
4. Damian MS, Seibel P, Schachenmayr W, Reichmann, Dorndoff W (1996): VACTERL with the mitochondrial np 3243 point mutation. Am J Med Genet 62:398-403.
5. Feingenbaum A, Chitayat D, Robinson B, Mac Gregor D, Myint T, Arbus G, Nowaczyk MJM (1996): The expanding clinical phenotype of the tRNA leu (UUR) A→G mutation at np 3243 of mitochondrial DNA: Diabetic embryopathy associated with mitochondrial cytopathy. Am J Med Genet 62:404-409.
6. Hall BD, Spranger J (1980): Campomelic dysplasia. Further elucidations of a distinct entity. Am J Dis Child 134:285-289.
7. Kozlowski K, Tenconi R (1996): Stüve-Wiedemann dysplasia in a 3 1/2-year-old-boy. Am J Med Genet 63:17-19.
8. Lutfalla G, Blanc H, Bertolotti R (1985): Shuttling of integrated vectors from mammalian cells to E. coli is mediated by head-to-tail multimeric inserts. Somat Cell Genet 11:223-238.
9. Maroteaux P, Spranger J, Opitz JM, Kûcera J, Lowry RB, Schimke RN, Kagan SM (1971): Le syndrome campomélique. Presse Méd 79:1157-1162.
10. Munnich A, Rötig A, Chretien D, Saudubray JM, Cormier V, Rustin P (1996a): Clinical presentations and laboratory investigations in respiratory chain deficiency. Eur J Pediatr 155:262-274.
11. Munnich A, Rötig A, Chretien D, Cormier V, Bourgeron T, Bonnefont JP, Saudubray JM, Rustin P (1996b): Clinical presentation of mitochondrial disorders in childhood. J Inher Metab Dis 19:521-527.
12. Othani Y, Miike T, Ishitsu T, Matsuda I, Tamari H (1985): A case of malignant hyperthermia with mitochondrial dysfunction. Brain Dev 7: 249.
13. Philippe HJ, Paupe A, Dompeyre Ph, Lenclen R, Nisand I (1993): Conduite à tenir devant la découverte échographique d'un fémur court in utero. A propos d'un diagnostic anténatal de syndrome de Stüve-Wiedemann. J Gynecol Obstet Biol Reprod 22:269-274.
14. Rustin P, Chretien D, Bourgeron T, Wucher A, Saudubray JM, Rotig A, Munnich A (1991): Assessment of the mitochondrial respiratory chain. [letter] Lancet 338:60.
15. Seligman AM, Karnovsky MJ, Wasserkrug HL, Hanker SJ (1968): Non-droplet ultrastructural demonstration of cytochrome oxidase activity with a polymerising osmiophilic reagent, diaminobenzidine (DAB). J Cell Biol 13:1-14.
16. Shepherd D, Garland PB (1969): Citrate synthase from a rat liver. Methods Enzymol 13:11-16.
17. Spranger J, Maroteaux P (1990): Stüve-Wiedemann syndrome. Adv Hum Genet 19:73.
18. Stüve A, Wiedemann HR (1971): Congenital bowing of the long bones in two sisters. Lancet: 495.
19. Tommerup N, Schempp W, Meinecke P, Pedersen S, Bolund L, Brandt C, Goodpasture C, Guldberg P, Held KR, Reinwein H (1993): Assignment of an autosomal sex reversal locus (SRA1) and campomelic dysplasia (CMPD1) to 17q24.3-q25.1. Nature Genet 4:170-174.
20. Wiedemann HR, Stüve A (1996): Stüve-Wiedemann syndrome: Update and historical footnote. Am J Med Genet 63:12-16.