Congenital cutis laxa with ligamentous laxity and delayed development, Dandy-Walker malformation and minor heart and osseous defects

Clinical Genetics
A BiverL Van Maldergem

Abstract

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.

References

Nov 1, 1978·Acta paediatrica Scandinavica·A AghaW L Nyhan
Apr 1, 1987·The Journal of Investigative Dermatology·A K KreyK A Holbrook
Feb 1, 1989·American Journal of Medical Genetics·L Van MaldergemM Yüksel
Oct 1, 1988·American Journal of Medical Genetics·L Van MaldergemP Van Durme
Sep 1, 1987·Journal of Medical Genetics·M A PattonM Pembrey
Oct 1, 1985·Clinical Genetics·J S FitzsimmonsK L Dodd
Jun 1, 1972·Journal of Medical Genetics·P Beighton

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Citations

Jan 20, 2005·European Journal of Human Genetics : EJHG·Eva MoravaStephanie Grünewald
Apr 30, 2009·European Journal of Human Genetics : EJHG·Eva MoravaRon A Wevers
Apr 28, 2006·Neuropathology and Applied Neurobiology·G NotaridisE Kövari
Jun 10, 2003·Plastic and Reconstructive Surgery·Nia D BanksPaul N Manson
Apr 23, 2003·American Journal of Medical Genetics. Part a·Linlea ArmstrongAlasdair G W Hunter
Feb 24, 2006·European Journal of Ophthalmology·E MoravaJ R M Cruysberg

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