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B. E, G. S, Fraser, Macrae
A N E L E C T R O N
N. Tommerup, W. Schempp, P. Meinecke, S. Pedersen, L. Bolund, C. Brandt, C. Goodpasture, P. Guldberg, K. Held, H. Reinwein, O. Saugstad, G. Scherer, O. Skjeldal, R. Toder, J. Westvik, C. Hagen, U. Wolf (1993)
Assignment of an autosomal sex reversa– locus (SRA1) and campomelic dysplasia (CMPD1) to 17q24.3–q25.1Nature Genetics, 4
A Munnich, A Rötig, D Chretien, JM Saudubray, V Cormier, P Rustin (1996a)
Clinical presentations and laboratory investigations in respiratory chain deficiency, 155
H. Philippe, A. Paupe, P. Dompeyre, R. Lenclen, I. Nisand (1993)
[Management of a short femur discovered via ultrasound in utero. Prenatal diagnosis of Stuve-Wiedemann syndrome].Journal de gynecologie, obstetrique et biologie de la reproduction, 22 3
D Shepherd, PB Garland (1969)
Citrate synthase from a rat liver, 13
A. Feigenbaum, D. Chitayat, B. Robinson, D. MacGregor, T. Myint, G. Arbus, M. Nowaczyk (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.American journal of medical genetics, 62 4
H. Wiedemann, A. Stüve (1996)
Stüve-Wiedemann syndrome: update and historical footnote.American journal of medical genetics, 63 1
M. Birch‐Machin, I. Shepherd, N. Watmough, H. Sherratt, K. Bartlett, V. Darley-Usmar, D. Milligan, R. Welch, A. Aynsley-Green, D. Turnbull (1989)
Fatal Lactic Acidosis in Infancy with a Defect of Complex III of the Respiratory ChainPediatric Research, 25
G. Lutfalla, H. Blanc, R. Bertolotti (1985)
Shuttling of integrated vectors from mammalian cells toE. coli is mediated by head-to-tail multimeric insertsSomatic Cell and Molecular Genetics, 11
P. Rustin, D. Chrétien, T. Bourgeron, Anne Wucher, J. Saudubray, A. Rotig, A. Munnich (1991)
Assessment of the mitochondrial respiratory chainThe Lancet, 338
GK Brown (1994)
Metabolic disorders of embryogenesis, 17
A. Stüve, H. Wiedemann (1971)
Congenital bowing of the long bones in two sisters.Lancet, 2 7722
D. Shepherd, P. Garland (1969)
ArrayMethods in Enzymology, 13
A. Brownell (1988)
Malignant hyperthermia: relationship to other diseases.British journal of anaesthesia, 60 3
A. Seligman, M. Karnovsky, H. Wasserkrug, J. Hanker (1968)
NONDROPLET ULTRASTRUCTURAL DEMONSTRATION OF CYTOCHROME OXIDASE ACTIVITY WITH A POLYMERIZING OSMIOPHILIC REAGENT, DIAMINOBENZIDINE (DAB)The Journal of Cell Biology, 38
P. Maroteaux, J. Spranger, J. Opitz, J. Kucera, R. Lowry, R. Schimke, S. Kagan (1971)
[The campomelic syndrome].La Presse medicale, 79 25
P Maroteaux, J Spranger, JM Opitz, J Kûcera, RB Lowry, RN Schimke, SM Kagan (1971)
Le syndrome campomélique, 79
K. Kozłowski, R. Tenconi (1996)
Stüve-Wiedemann dysplasia in a 3 1/2-year-old boy.American journal of medical genetics, 63 1
Y Othani, T Miike, T Ishitsu, I Matsuda, H Tamari (1985)
A case of malignant hyperthermia with mitochondrial dysfunction, 7
J Spranger, P Maroteaux (1990)
Stüve‐Wiedemann syndrome, 19
A Munnich, A Rötig, D Chretien, V Cormier, T Bourgeron, JP Bonnefont, JM Saudubray, P Rustin (1996b)
Clinical presentation of mitochondrial disorders in childhood, 19
Maxwell Damian, Peter Seibel, W. Schachenmayr, Heinz Reichmann, W. Dorndorf (1996)
VACTERL with the mitochondrial np 3243 point mutation.American journal of medical genetics, 62 4
B. Hall, J. Spranger (1980)
Campomelic dysplasia. Further elucidation of a distinct entity.American journal of diseases of children, 134 3
HJ Philippe, A Paupe, PH Dompeyre, R Lenclen, I Nisand (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, 22
P Rustin, D Chretien, T Bourgeron, A Wucher, JM Saudubray, A Rotig, A Munnich (1991)
Assessment of the mitochondrial respiratory chain. [letter], 338
The Stüve‐Wiedemann syndrome (SWS) comprises short stature, congenital bowing of the long bones, respiratory distress, and recurrent episodes of unexplained hyperthermia. The skeletal radiographic changes include short and broad long bones, large metaphyses, internal cortical thickening, and angulation primarily of tibiae and femora, but also of humeri and forearm bones. We report 3 cases of SWS from 2 different unrelated consanguineous gypsy families. All 3 cases fulfilled the clinical and radiological criteria of SWS. Two patients died shortly after birth, whereas the third one was alive at the age of one year. Besides hyperthermic episodes, one patient had hyperaminoaciduria, hepatic failure, and megaloblastic anemia which prompted us to investigate mitochondrial respiratory chain in 2 cases. Abnormal results consisting of decreased activities of complex I and IV were found in both. The simultaneous occurrence of both SWS phenotype and abnormal mitochondrial metabolism in two unrelated cases strongly supports the hypothesis of a pathogenetic relationship between the two events. These cases may also be related to recent reports on the effects of the mitochondrial respiratory chain defects on embryogenesis. Am. J. Med. Genet. 72:222–226, 1997. © 1997 Wiley‐Liss, Inc.
American Journal of Medical Genetics Part A – Wiley
Published: May 17, 1998
Keywords: ; ; ; ;
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