Congenital cutis laxa with ligamentous laxity and delayed development, Dandy-Walker malformation and minor heart and osseous defects.
We present a female infant exhibiting congenital cutis laxa with retardation of growth and motor development, ligamentous laxity and congenital dislocation of the hips. This connective tissue disorder was associated with Dandy-Walker malformation, atrial and ventricular defect and minor bone abnormalities including multiple wormian bones, abnormal tubulation of long bones and absent twelfth pair of ribs. This association is believed to be unique.
Biver
A
A
Department of Pediatrics, Hôpital Universitaire St Pierre, Free University of Brussels, Belgium.
De Rijcke
S
S
Toppet
V
V
Ledoux-Corbusier
M
M
Van Maldergem
L
L
D000015:Abnormalities, Multiple / Q000235:genetics*; D001842:Bone and Bones / Q000002:abnormalities; D003483:Cutis Laxa / Q000151:congenital* / Q000235:genetics; D003616:Dandy-Walker Syndrome / Q000235:genetics*; D002658:Developmental Disabilities / Q000235:genetics; D004421:Dystonia; D005260:Female; D005808:Genes, Recessive; D006330:Heart Defects, Congenital; D006618:Hip Dislocation, Congenital; D006801:Humans; D007231:Infant, Newborn; D008022:Ligaments / Q000503:physiopathology