Syndrome of congenital cutis laxa with ligamentous laxity and delayed development: report of a brother and sister from Turkey.
Congenital cutis laxa with ligamentous laxity and delayed development has recently been defined as a distinct entity of autosomal recessive inheritance. Here we report on 2 new cases of this syndrome. With severe manifestations in the male, X-linked dominant inheritance is discussed. Results of ultrastructural studies of skin and biochemical studies are reported.
Oğur
G
G
Department of Genetics, University of Istanbul, Turkey.
Yüksel-Apak
M
M
Demiryont
M
M
D002648:Child; D002675:Child, Preschool; D003483:Cutis Laxa / Q000151:congenital / Q000235:genetics* / Q000473:pathology; D002658:Developmental Disabilities / Q000235:genetics*; D004547:Elastic Tissue / Q000002:abnormalities; D005260:Female; D005799:Genes, Dominant; D008040:Genetic Linkage; D006801:Humans; D008022:Ligaments / Q000473:pathology*; D008297:Male; D013577:Syndrome; D014960:X Chromosome