Severe congenital cutis laxa with pulmonary emphysema: a family with three affected sibs

Am J Med Genet. 1988 Oct;31(2):455-64. doi: 10.1002/ajmg.1320310226.


Clinical and morphologic findings in 3 sibs with congenital cutis laxa are presented. A severe urinary malformation in one affected infant is reported in detail. Elevated serum copper concentrations were observed in 2 of the sibs and in the healthy mother. However, the 64Cu uptake of fibroblast cells from tissue culture was not increased. Ultrastructural pathologic findings from skin biopsies have been studied and compared at birth and at age 2 years. The lack of junction between the 2 elastic fiber components was similar. Further evidence for clinical heterogeneity of this disease is stressed.

Publication types

  • Case Reports

MeSH terms

  • Cutis Laxa / complications
  • Cutis Laxa / congenital
  • Cutis Laxa / genetics*
  • Emphysema / complications
  • Emphysema / congenital
  • Emphysema / genetics*
  • Female
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Pedigree
  • Skin / ultrastructure
  • Urologic Diseases / complications
  • Urologic Diseases / genetics