Tiên lượng cho bệnh nhân có đột biến L1CAM biến đổi cao. Các trường hợp nghiêm trọng nhất của đột biến L1CAM liên quan đến sự sụp đổ của thai nhi, có lẽ vì áp lực tác dụng lên não bộ phát triển bởi hydrocephaly. Tuy nhiên, trong trường hợp ít nghiêm trọng | XX male syndrome Prognosis The prognosis for patients with L1CAM mutations is highly variable. The most severe cases of L1CAM mutations involve fetal demise presumably because of the pressure exerted on the developing brain by the hydrocephaly. However in less severe cases the lifespan is determined primarily by general health and care factors. A number of patients with less severe L1CAM spectrum disorders have lived at least into their 50s. Resources PERIODICALS Fransen E. et al. L1-associated Diseases Clinical Geneticists Divide Molecular Geneticists Unite. Human Molecular Genetics 6 1997 1625-1632. Kenwrick S. M. Jouet and D. Donnai. X Linked Hydrocephalus and MASA Syndrome. Journal of Medical Genetics 33 1996 59-65. Kenwrick S. A. Watkins and E. De Angelis. Neural Cell Recognition Moleculae L1 Relating Biological Complexity to Human Disease Mutations. Human Molecular Genetics 9 2000 879-886. ORGANIZATIONS Guardians of Hydrocephalus Research Foundation. 2618 Avenue Z Brooklyn NY 11235-2023. 718 743-4473 or 800 458-865. Fax 718 743-1171. guardians1 @. Hydrocephalus Association. 870 Market St. Suite 705 San Francisco CA 94102. 415 732-7040 or 888 598-3789. Fax 415 732-7044. hydroassoc@. http ha . Hydrocephalus Support Group Inc. PO Box 4236 Chesterfield mO 63006-4236. 314 532-8228. hydrobuff @. National Hydrocephalus Foundation. 12413 Centralia Lakewood CA 90715-1623. 562 402-3523 or 888 2601789. hydrobrat@. http .org . National Institute of Neurological Disorders and Stroke. 31 Center Drive MSC 2540 Bldg. 31 Room 8806 Bethesda MD 20814. 301 496-5751 or 800 352-9424. http . National Organization for Rare Disorders NORD . PO Box 8923 New Fairfield CT 06812-8923. 203 746-6518 or 800 999-6673. Fax 203 746-6481. http www . . WEBSITES L1 Mutation Web Page. http dnalab l1 . Ron C. Michaelis PhD FACMG XO syndrome see Turner syndrome I .
