Laurence Moon Bardet-Beidl Syndrome E-mail Group Return to Search Page Laurence Moon BardetBeidl syndrome E-mail Group. ,. ConditionsLaurence Moon Bardet Biedl syndrome. Contact Name Sue Williams. http://www.geneticalliance.org/Resources/displayorganization.html?orgname=Lauren
Online And Offline Support: L Phone number 01494 764924. Laurence Moon Bardet Biedl syndrome (United States)People served Families dealing with Laurence Moon Bardet Biedl syndrome; http://www.widesmiles.org/support/l.html
Extractions: L Langer-Giedion Syndrome Langer-Giedion Syndrome Association Louise Kinross Email address: lgsa@geocities.com Website: http://www.geocities.com/HotSprings/9308/ Laurence-Moon-Bardet-Biedl Syndrome Please note: Laurence-Moon-Bardet-Biedl Syndrome includes specific facial characteristics that do not require reconstructive surgery. The LMBBS Society (United Kingdom) Laurence Moon Bardet Biedl Syndrome (United States) People served: Families dealing with Laurence Moon Bardet Biedl Syndrome Services provided: Support and information Address: 124 Lincoln Avenue, Purchase NY 10577
Laurence Moon Biedl Syndrome click For Medical Professionals only. Laurence moon biedlsyndrome,, Print this article, (John Zachariah Laurence, 1830 http://www.amershamhealth.com/medcyclopaedia/Volume VII/LAURENCE MOON BIEDL SY
Extractions: *For Medical Professionals only, registration required Laurence moon biedl syndrome, (John Zachariah Laurence, 18301874, British ophthalmologist, Robert C. Moon, 18441914, American ophthalmologist, Artur Biedl, 18691933, Austrian physician), autosomal recessive condition the features of which are mental retardation, hypogonadism, pigmented retinopathy and renal tract abnormalities, the dominant features of which are renal cysts and renal hypoplasia. The kidneys are usually somewhat enlarged and on ultrasound appear echo bright. Function is often reduced. The differential diagnosis of the renal appearances include infantile polycystic kidney disease but other features such as polydactyly usually enable this condition to be differentiated.
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Laurence Moon Bardet Biedl Syndrome Laurence Moon Bardet Biedl syndrome. National network. Founded 1983. Mutual supportand networking for persons affected by Lawrence Moon Bardet Biedl syndrome. http://www.medhelp.org/amshc/amshc435.htm
Extractions: Title: The Lissencephaly Network Description: Support for families affected by lissencephaly or other neuronal migration disorders, and their families. Helps relieve the stress of caring for an ill child. Research updates, newsletter, database of affected children. Networking of parents. Scope: International network Founded: Address: c/o Dianna Fitzgerald
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Extractions: Laurence-Moon-Bardet-Biedlin oireyhtymän tunnusmerkkejä ovat liikalihavuus, psyykkinen kehitysvammaisuus , kehittymättömät sukuelimet ja silmien verkkokalvojen rappeutuminen ( Retinitis Pigmentosa ). Myös munuaisten vauriot ja raajojen jäykkyys ( spastinen paraplegia ) sekä lisävarvas kuuluvat taudinkuvaan. Sairaus on hyvin harvinainen ja periytyvä. Periytyminen tapahtuu 11. tai 16. kromosomin välityksellä. Jälkimmäisessä tapauksessa on ollut tapana puhua taudin 2. tyypistä. LMBBS-sairauden kuvasi ensimmäisenä englantilainen lääkäri John Zachariah Laurence yhdessä amerikkalaisen kolleegansa tri Moonin kanssa 1866. Laurence-Moonin oireyhtymä yhdistettiin myöhemmin 1900-luvun alkupuolella Bardet-Biedlin oireyhtymään , koska sairauksien piirteet näyttivät samoilta. Oireyhtymän väitetään olevan normaalia yleisempi Kuwaitin arabiväestön (beduiinit) keskuudessa. LMBBS-tautia sairastavista 75 % on kehitysvammaisia, 70 % näkövammautuu ensimmäisinä elivuosinaan. Parantavaa hoitoa sairauteen ei ole. Näkövammais- ja kehitysvamma-alan kuntoutus ovat elämässä selviytymisen kannalta keskeisessä asemassa. Lisätietoja: Laurence-Moon-Bardet-Biedl-oireyhtymästä, Maarit Peippo, Väestöliitto
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