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Medientyp: E-Artikel Titel: Arthrogryposis multiplex with deafness, inguinal hernias, and early death: A family report of a probably autosomal recessive trait Beteiligte: Tiemann, Christian; Bührer, Christoph; Burwinkel, Barbara; Wirtenberger, Michael; Hoehn, Thomas; Hübner, Christoph; van Landeghem, Frank K.H.; Stoltenburg, Gisela; Obladen, Michael Erschienen: Wiley, 2005 Erschienen in: American Journal of Medical Genetics Part A Sprache: Englisch DOI: 10.1002/ajmg.a.30860 ISSN: 1552-4833; 1552-4825 Schlagwörter: Genetics (clinical) ; Genetics Entstehung: Anmerkungen: Beschreibung: <jats:title>Abstract</jats:title><jats:p>We report on three male newborn infants of a highly inbred Lebanese family presenting with a characteristic phenotype: arthrogryposis multiplex, deafness, large inguinal hernia, hiccup‐like diaphragmatic contractions, and inability to suck, requiring nasogastric gavage feeding. All three boys died from respiratory failure during the first 3 months of life. Intra vitam or post mortem examinations revealed myopathic changes and elevated glycogen content of muscle tissue. This new syndrome is probably transmitted in an autosomal recessive mode, although X‐linked inheritance cannot be excluded. © 2005 Wiley‐Liss, Inc.</jats:p>