title: Severe congenital cutis laxa with pulmonary emphysema: a family with three affected sibs.
abstract: 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.
authors.affiliation: Department of Pediatrics, Hôpital Universitaire Saint-Pierre, Brusssels, Belgium.
authors.forename: L
authors.initials: L
authors.lastname: Van Maldergem
authors.forename: E
authors.initials: E
authors.lastname: Vamos
authors.forename: I
authors.initials: I
authors.lastname: Liebaers
authors.forename: P
authors.initials: P
authors.lastname: Petit
authors.forename: G
authors.initials: G
authors.lastname: Vandevelde
authors.forename: A
authors.initials: A
authors.lastname: Simonis-Blumenfrucht
authors.forename: R
authors.initials: R
authors.lastname: Bouffioux
authors.forename: S
authors.initials: S
authors.lastname: Kulakowski
authors.forename: S
authors.initials: S
authors.lastname: Hanquinet
authors.forename: P
authors.initials: P
authors.lastname: Van Durme
mesh_terms: D003483:Cutis Laxa / Q000150:complications / Q000151:congenital / Q000235:genetics*; D004646:Emphysema / Q000150:complications / Q000151:congenital / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree; D012867:Skin / Q000648:ultrastructure; D014570:Urologic Diseases / Q000150:complications / Q000235:genetics