Mok, Q; Curley, R; Tolmie, JL; Marsden, RA; Patton, MA; Davies, EG; (1990) Restrictive dermopathy: a report of three cases. J Med Genet , 27 (5) 315 - 319.
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We report three infants with a rare syndrome of restrictive dermopathy, in which rigidity of the skin at birth is associated with characteristic facial anomalies, generalised arthrogryposis, bony abnormalities, and lung hypoplasia. The skin has a distinctive pathology with compaction of the dermal collagen and fibrosis of the subcutaneous tissue. The inheritance is likely to be autosomal recessive and the condition appears to be fatal in the early neonatal period.
|Title:||Restrictive dermopathy: a report of three cases.|
|Additional information:||PMCID: PMC1017083|
|Keywords:||Arthrogryposis, Bone and Bones, Chromosome Aberrations, Consanguinity, Facial Expression, Genes, Recessive, Humans, Infant, Newborn, Karyotyping, Lung, Male, Skin Diseases|
|UCL classification:||UCL > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Child Health|
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