UCL logo

UCL Discovery

UCL home » Library Services » Electronic resources » UCL Discovery

Restrictive dermopathy: a report of three cases.

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.

Full text not available from this repository.

Abstract

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.

Type:Article
Title:Restrictive dermopathy: a report of three cases.
Location:ENGLAND
Language:English
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

Archive Staff Only: edit this record