title: Arthrogryposis multiplex with deafness, inguinal hernias, and early death: a family report of a probably autosomal recessive trait.
abstract: 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.
authors.affiliation: Department of Neonatology, Charité Medical Center, Virchow Hospital, Berlin, Germany.
authors.forename: Christian
authors.initials: C
authors.lastname: Tiemann
authors.forename: Christoph
authors.initials: C
authors.lastname: Bührer
authors.forename: Barbara
authors.initials: B
authors.lastname: Burwinkel
authors.forename: Michael
authors.initials: M
authors.lastname: Wirtenberger
authors.forename: Thomas
authors.initials: T
authors.lastname: Hoehn
authors.forename: Christoph
authors.initials: C
authors.lastname: Hübner
authors.forename: Frank K H
authors.initials: FK
authors.lastname: van Landeghem
authors.forename: Gisela
authors.initials: G
authors.lastname: Stoltenburg
authors.forename: Michael
authors.initials: M
authors.lastname: Obladen
mesh_terms: D015061:1,4-alpha-Glucan Branching Enzyme / Q000235:genetics / Q000378:metabolism; D000015:Abnormalities, Multiple / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D001176:Arthrogryposis / Q000473:pathology*; D003241:Consanguinity; D003638:Deafness / Q000473:pathology*; D005192:Family Health; D017809:Fatal Outcome; D005260:Female; D005808:Genes, Recessive / Q000235:genetics; D006003:Glycogen / Q000378:metabolism; D006552:Hernia, Inguinal / Q000473:pathology*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree; D010762:Phosphorylase a / Q000378:metabolism; D020641:Polymorphism, Single Nucleotide
chemical_list: D006003:Glycogen; D010762:Phosphorylase a; D015061:1,4-alpha-Glucan Branching Enzyme