Lethal autosomal recessive arthrogryposis multiplex congenita with whistling face and calcifications of the nervous system.
Three children from a sibship of four had congenital contractures, scarce facial expressions, central nervous system dysfunction, and early death. Extensive deposits of calcium compounds were found at postmortem examination of the nervous system and of skeletal muscle. The disorder in these sibs is presumably inherited as an autosomal recessive trait. The metabolic basis for the calcium deposition has yet to be discovered.
Illum
N
N
Department of Paediatrics, Rigshospitalet, Copenhagen, Denmark.
Reske-Nielsen
E
E
Skovby
F
F
Askjaer
S A
SA
Bernsen
A
A
D001176:Arthrogryposis / Q000235:genetics* / Q000473:pathology; D001921:Brain / Q000473:pathology*; D002114:Calcinosis / Q000235:genetics* / Q000473:pathology; D002493:Central Nervous System Diseases / Q000235:genetics* / Q000473:pathology; D005149:Facial Expression; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007231:Infant, Newborn