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Arthrogryposis multiplex with deafness, inguinal hernias, and early death: A family report of a probably autosomal recessive trait
Author(s) -
Tiemann Christian,
Bührer Christoph,
Burwinkel Barbara,
Wirtenberger Michael,
Hoehn Thomas,
Hübner Christoph,
van Landeghem Frank K.H.,
Stoltenburg Gisela,
Obladen Michael
Publication year - 2005
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.30860
Subject(s) - arthrogryposis multiplex congenita , arthrogryposis , medicine , inguinal hernia , diaphragmatic hernia , autosomal recessive trait , pediatrics , hernia , anatomy , biology , genetics , surgery , gene
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.