Arthrogryposis, ectodermal dysplasia and other anomalies in two sisters.
Ectodermal dysplasia with arthrogryposis is an uncommon condition. We describe two daughters of a distant consanguineous couple with oligodentia, enamel abnormalities, camptodactyly, longitudinally broken nails, growth retardation, joint contractures with amyotrophy, hypohidrotic skin with tendency to excessive bruising and scarring after injuries and scratching, kypho-scoliosis, mild facial dysmorphia and microcephaly. The condition is probably due to an autosomal recessive gene, the parents being gypsies of the same ancestral origin.
Stoll
C
C
Institut de Puériculture, Centre Hospitalier, Universitaire, Strasbourg.
Alembik
Y
Y
Finck
S
S
Janser
B
B
D000328:Adult; D001176:Arthrogryposis / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D003241:Consanguinity; D004476:Ectodermal Dysplasia / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D007576:Jaw, Edentulous, Partially / Q000235:genetics; D010375:Pedigree; D010641:Phenotype