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Arthrogryposis multiplex with deafness, inguinal hernias, and early death: a family report of a probably autosomal recessive trait.

Tiemann C, Bührer C, Burwinkel B, Wirtenberger M, Hoehn T, Hübner C, van Landeghem FK, Stoltenburg G, Obladen M

Department of Neonatology, Charité Medical Center, Virchow Hospital, Berlin, Germany.

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.

Published 29 August 2005 in Am J Med Genet A, 137(2): 125-9.
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