Congenital cutis laxa with retardation of growth and motor development: a recessive disorder of connective tissue with male lethality.
A syndrome of cutis laxa, ligamentous laxity and delayed motor development has been reported in 13 children. All are girls. Four are from Saudi Arabia. Another Saudi Arabian girl, the product of a consanguineous union, is described with intrauterine growth retardation, delayed closure of the anterior fontanel, slow motor development, cutis laxa and ligamentous laxity. The syndrome appears to be an autosomal recessive disorder of connective tissue, with male lethality.
J
J
Allanson
W
W
Austin
F
F
Hecht
D003241:Consanguinity; D003483:Cutis Laxa / Q000151:congenital / Q000235:genetics* / Q000503:physiopathology; D002658:Developmental Disabilities / Q000235:genetics*; D005260:Female; D005317:Fetal Growth Retardation / Q000235:genetics; D005804:Genes, Lethal; D006130:Growth Disorders / Q000151:congenital / Q000235:genetics*; D006801:Humans; D007223:Infant; D008022:Ligaments / Q000503:physiopathology; D009048:Motor Skills; D010375:Pedigree; D011247:Pregnancy; D012737:Sex Factors