title: A boy with developmental delay, malformations, and evidence of a connective tissue disorder: possibly a new type of cutis laxa.
abstract: We report a 7.5-year-old boy with loose translucent skin, aortic dilatation, hyperextensible veins, recurrent respiratory problems, pectus excavatum, arthralgias, lax joints, mild epiphyseal dysplasia, and umbilical and inguinal hernias. He also has developmental delay, progressive bilateral sensorineural hearing loss, an unusual facial appearance, terminal digit hypoplasia with unusual radiographic changes in some of the phalanges, glandular hypospadias, shawl scrotum, and undescended testes. Biochemical investigations, including electrophoresis of Types 1 and 3 procollagens and collagens, and quantification of serum copper and ceruloplasmin, are normal. Relative to age-matched control patients the electron micrographs of the boy's dermis show elastin fibers to be decreased in number, and abnormal in appearance, with a low matrix to microfibril ratio. The organ distribution of abnormalities and the nature of the findings suggest a connective tissue disorder. We contrast and compare this boy's phenotype to those of the classic connective tissue disorders. We conclude that he has cutis laxa with features that distinguish him from previously described types of cutis laxa.
authors.affiliation: Eastern Ontario Genetics Program, Children's Hospital of Eastern Ontario, Ottawa, Canada. liarmstrong@cheo.on.ca
authors.forename: Linlea
authors.initials: L
authors.lastname: Armstrong
authors.forename: Carmencita
authors.initials: C
authors.lastname: Jimenez
authors.forename: Alasdair G W
authors.initials: AG
authors.lastname: Hunter
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D001842:Bone and Bones / Q000000981:diagnostic imaging / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D003240:Connective Tissue Diseases / Q000235:genetics*; D003483:Cutis Laxa / Q000235:genetics*; D020732:Cytogenetic Analysis; D020405:Dermis / Q000473:pathology; D002658:Developmental Disabilities / Q000235:genetics*; D006228:Hand Deformities, Congenital / Q000000981:diagnostic imaging; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008854:Microscopy, Electron; D011859:Radiography