Stüve-Wiedemann syndrome and defects of the mitochondrial respiratory chain
| Autor: | Nicole Philip, Brigitte Chabrol, Sabine Sigaudy, Jean-François Pellissier, Véronique Paquis, Véronique Millet, Josette Mancini, Hélène Giudicelli, Marie-France Montfort |
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| Rok vydání: | 1997 |
| Předmět: |
Male
medicine.medical_specialty Physiology Consanguinity Short stature Bone and Bones Pathogenesis Forearm Internal medicine medicine Humans Abnormalities Multiple Megaloblastic anemia Genetics (clinical) Respiratory distress business.industry Respiratory disease Infant Newborn Mitochondrial Myopathies Syndrome medicine.disease Radiography Endocrinology medicine.anatomical_structure Mitochondrial respiratory chain Female medicine.symptom business |
| Zdroj: | American Journal of Medical Genetics. 72:222-226 |
| ISSN: | 1096-8628 0148-7299 |
| DOI: | 10.1002/(sici)1096-8628(19971017)72:2<222::aid-ajmg18>3.0.co;2-p |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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