Arthrogryposis multiplex with deafness, inguinal hernias, and early death: a family report of a probably autosomal recessive trait.
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.
Tiemann
Christian
C
Department of Neonatology, Charité Medical Center, Virchow Hospital, Berlin, Germany.
Bührer
Christoph
C
Burwinkel
Barbara
B
Wirtenberger
Michael
M
Hoehn
Thomas
T
Hübner
Christoph
C
van Landeghem
Frank K H
FK
Stoltenburg
Gisela
G
Obladen
Michael
M
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
D006003:Glycogen; D010762:Phosphorylase a; D015061:1,4-alpha-Glucan Branching Enzyme