Geometry.Net - Health_Conditions: Coffin Lowry Syndrome


Home - Health_Conditions - Coffin Lowry Syndrome

e99.com Bookstore

Images

Newsgroups

1-20 of 94 1 | 2 | 3 | 4 | 5 | Next 20

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Coffin Lowry Syndrome: more detail

The Official Parent's Sourcebook on Coffin-lowry Syndrome: A Directory for the Internet Age by Icon Health Publications, 2005-01-30

Coffin-Lowry Syndrome - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers by Philip M. Parker, 2007-07-20

Coffin-Lowry syndrome: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Roger, MD Stevenson, 2005

lists with details

NINDS Coffin Lowry Information Page
Information sheet compiled by the National Institute of Neurological Disorders and Stroke (NINDS).Category Health Conditions and Diseases coffin lowry syndromecoffin lowry syndrome information sheet compiled by the National Institute ofNeurological Disorders and Stroke (NINDS). More about coffin lowry syndrome,
http://www.ninds.nih.gov/health_and_medical/disorders/coffin_lowry.htm
Welcome
Information about the organization as well as CLS. Includes FAQs, news, links, parent and foundation Category Health Conditions and Diseases coffin lowry syndrome
http://clsfoundation.tripod.com/
Coffin-Lowry Syndrome
coffin lowry syndrome information from OMIM. coffin lowry syndrome. Coffin Lowry information from NORD
http://www.familyvillage.wisc.edu/lib_cls.htm

Extractions: Website: http://www.freeyellow.com/members3/clsf/index.html CLSF serves as a clearinghouse for information on CLS and as a general forum for exchanging experiences, advice and information with other CLS families. The Foundation seeks to become a visible group in the medical, scientific, educational and professional communities in order to facilitate referrals of newly diagnosed individuals, and to encourage medical and behavioral research aimed at finding the cause of CLS in order to improve methods of social integration of CLS individuals. CLS has a parent-to-parent matching program and will match families geographically or based on similar concerns such as scoliosis or other health problems. They provide a newsletter
Coffin-Lowry
coffin lowry syndrome, an in depth article by Terry Patterson along with some images.Category Health Conditions and Diseases coffin lowry syndromeCOFFINLOWRY SYNDROME. by Terry Patterson. Clinical signs of Coffin-Lowry syndrome.Coffin-Lowry syndrome(CLS), is characterized by several deformities.
http://www.mssc.edu/biology/B305/GTS/ss97/coflowry/coflowry.htm

Extractions: Coffin-Lowry syndrome(CLS), is characterized by several deformities. It is most noticeable in the face of the afflicted individual. A broad pug nose, protruding nares (nostrils), large ears and mouth, and prominent brow are just a few of the phenotypic signs of CLS. Individuals with CLS tend to be short in stature with stooped posture. Their limbs are characterized by flat feet, fullness of forearms, and hyperextensible fingers that are short, puffy, and tapered. A more serious defect is that the individuals have fused, shortened chordae tendineae. This causes mitral regurgitation. People with CLS are also mentally retarded. These are just a few of signs of this disorder. Some others include the following: arrested hydrocephalus(fluid on the brain), hydronephrosis, panacinar emphysema, and premature exfoliation of primary teeth.(OMIM 1997) Coffin-Lowry syndrome is an X-linked dominant trait. Males with this disease show all of the symptoms with varying degree. Females that are heterozygous for CLS seem to show some signs of having the disease, such as slight mental retardation. Several mildly affected females suffer from depressive psychosis. It is not known whether the depressive psychosis is caused by CLS or if it is coincidental. Coffin-Lowry syndrome was first studied in 1971 and still very little is known about this disorder. CLS is a rare disorder that seems to affect mostly males. Trivier et al. (1996) demonstrated deletion, nonsense, and missense mutations of the RSK2 gene in people with CLS. The RSK2 gene codes for a member of the growth-factor-regulated protein kinases. The two missenses affect sites critical for the function of RSK2. The mutated RSK2 proteins were found to be inactive in a S6 kinase assay.(Trivier 1996) This provides direct evidence that abnormalities in the RSK signaling pathway cause Coffin-Lowry syndrome.
Coffin-Lowry Syndrome
CoffinLowry Syndrome. coffin lowry syndrome. Short description of cell lines
http://www.bdid.com/coffinlowry.htm
NINDS - News And Events
Sorry! There are no press releases for coffin lowry syndrome. Useyour browser's Back button to return to your previous activity.
http://www.ninds.nih.gov/health_and_medical/news.htm?url=/health_and_medical/dis
Coffin & Lowry
coffin lowry syndrome SYNDROME DE COFFIN LOWRY MUTATIONS DATA BASE BIBLIOGRAPHY SUBMISSION of ADDITIONAL MUTATIONS and POLYMORPHISMS . USEFUL LINKS
http://www-ulpmed.u-strasbg.fr/chimbio/diag/coffin
Coffin-Lowry Syndrome (CLS)
Coffin-Lowry syndrome, the synonyms, a summary and major features.Category Health Conditions and Diseases coffin lowry syndromeMultiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes. View the FullRecord Syndrome, CoffinLowry syndrome (CLS). Synonyms, Coffin syndrome 2.
http://www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome238.html

Extractions: Syndrome Coffin-Lowry syndrome (CLS) Synonyms Coffin syndrome 2 Coffin-Siris-Wegienka syndrome soft hands syndrome Summary Mental and somatic retardation in association with characteristic facies, large soft hands, and various bone abnormalities. A variant syndrome consists of growth and mental retardation, nail hypoplasia, hirsutism, and coarse facies with a large mouth, macroglossia, and bushy eyebrows. Major Features Head and neck: Midfacial hypoplasia, prominent forehead, flat occiput, prominent supraorbital ridges, and mandibular prognathism with relative maxillary retrognathia, in association with ear, nose and eye anomalies give the face a characteristic appearance. Thickened calvaria, large anterior fontanel, and delayed suture closing. Ears: Prominent pinnae. Eyes: Hypertelorism, downslanting palpebral fissures, and blepharoptosis. Nose: Large nose with flared alae and broad base and elongated philtrum. Mouth and oral structures: Large mouth, thick lips, open pouting mouth, and furrowed tongue. Malocclusion, absent or abnormal permanent incisors, and frequent periodontal disease with tooth loss.
Google Directory - Health > Conditions And Diseases > Genetic Disorders > Coffin
Search only in coffin lowry syndrome Search the Web coffin lowry syndrome CoffinLowry Syndrome Foundation - http//clsfoundation.tripod.com/ Information about the organization as well as CLS.
http://directory.google.ch/Top/Health/Conditions_and_Diseases/Genetic_Disorders/
MEDLINEplus: Facial Injuries And Disorders
Association). Specific Conditions/Aspects coffin lowry syndrome (NationalInstitute of Neurological Disorders and Stroke); Craniofacial
http://www.nlm.nih.gov/medlineplus/facialinjuriesanddisorders.html

Extractions: Coffin Lowry Syndrome (National Institute of Neurological Disorders and Stroke) Craniofacial Syndrome Descriptions (Children's Craniofacial Association) Craniosynostosis and Craniofacial Disorders (American Association of Neurological Surgeons) Crouzon Syndrome (Craniofacial Dysostosis) (Cleft Palate Foundation) Hemifacial Spasm (National Institute of Neurological Disorders and Stroke) Holoprosencephaly (National Institute of Neurological Disorders and Stroke) Information About Pierre Robin Sequence/Complex (Cleft Palate Foundation) Know the Score on Facial Sports Injuries (American Academy of Otolaryngology-Head and Neck Surgery, Inc.)
Coffin & Lowry
coffin lowry syndrome. SYNDROME DE COFFIN LOWRY.
http://alsace.u-strasbg.fr/chimbio/diag/coffin/
NINDS Coffin Lowry Information Page
coffin lowry syndrome information sheet compiled by the National Institute ofNeurological Disorders and Stroke (NINDS). What is coffin lowry syndrome?
http://accessible.ninds.nih.gov/health_and_medical/disorders/coffin_lowry.htm

Extractions: Disorders - National Institute of Neurological Disorders and Stroke (NINDS) Skip menus Home About NINDS Disorders-you are in this section ... Find People The nation's leading supporter of biomedical research on disorders of the brain and nervous system. Select Topic Disorder Quick Links Alzheimer's Autism Cerebral Palsy Chronic Pain Epilepsy Headache Multiple Sclerosis Parkinson's Stroke Traumatic Brain Injury Studies with patients Research literature Press release NINDS Search (search help) Contact us My privacy NINDS is part of the National Institutes of Health Contact us NINDS Coffin Lowry Information Page
Health Library - Coffin Lowry Syndrome
Saint Luke's Health System eLibrary. coffin lowry syndrome. Synonyms Disorder SubdivisionsGeneral Discussion Resources National Organization for Rare Disorders.
http://hvelink.saint-lukes.org/library/healthguide/IllnessConditions/topic.asp?h
Coffin Lowry Syndrome : Meddie Health Search
ITEMS LINKS coffin lowry syndrome Information sheet compiled by theNational Institute of Neurological Disorders and Stroke (NINDS).
http://www.meddie.com/search/Health/Conditions_and_Diseases/Genetic_Disorders/Co
Genetic Disorders : Meddie Health Search
Alpha1 Antitrypsin Deficiency (7). Batten (8). Beckwith-Wiedemann Syndrome (7).coffin lowry syndrome (6). Costello Syndrome (3). Craniofrontonasal Dysplasia (4).
http://www.meddie.com/search/Health/Conditions_and_Diseases/Genetic_Disorders/
Health Library - Coffin Lowry Syndrome
coffin lowry syndrome. Synonyms Disorder Subdivisions General DiscussionResources National Organization for Rare Disorders. Important
http://health_info.nmh.org/Library/HealthGuide/IllnessConditions/topic.asp?hwid=
ORPHANET® : Base De Données Sur Les Maladies Rares Et Les Médicaments Orpheli
Partington MW, Mulley JC, Sutherland GR, Thode A, Turner G. A family withthe coffin lowry syndrome revisited localization of CLS to Xp21pter.
http://orphanet.infobiogen.fr/data/patho/GB/uk-coffin.html

Extractions: References The Coffin-Lowry syndrome (CLS) is a syndromic form of X-linked mental retardation that was initially and independently described by Coffin et al. [1966] and Lowry et al. [1971] and definitively distinguished by Tentamy et al. The diagnosis is based on clinical examination (see Gilgenkrantz et al. , 1988, Young, 1988). In adult male patients, the disease has a well-defined phenotype and in most cases it can be diagnosed by professionals trained in genetic disorders. Characteristic features are psychomotor retardation, typical facial dysmorphism and progressive skeletal deformations. Large, soft hands with lax skin and tapering fingers, is usually a strong diagnostic feature. However, the clinical presentation of CLS may vary markedly variable in both severity and the expression of uncommonly associated features, occasionally leading to diagnostic difficulties. In addition, the physical characteristics are usually very mild during infancy and CLS may be confused with other syndromes. In most cases mutation analysis is essential to confirm the diagnosis. In young male patients in particular, the mild physical features of CLS may lead to the diagnosis of other syndromes, most notably alpha-thalassemia with mental retardation syndrome (ATR-X, MIM # 300032), but also to the diagnosis of fragile X syndrome (MIM 309550), Sotos syndrome (MIM # 117550), Williams syndrome (MIM # 194050) and lysosomal storage disease (Plomp
Health Library - Coffin Lowry Syndrome
coffin lowry syndrome. Synonyms Disorder Subdivisions General DiscussionResources National Organization for Rare Disorders. Important
http://www.laurushealth.com/library/healthguide/illnessconditions/topic.asp?hwid
Health Library - Coffin Lowry Syndrome
FREE. coffin lowry syndrome. Synonyms Disorder Subdivisions GeneralDiscussion Resources National Organization for Rare Disorders.
http://hvlib.integris-health.com/Library/HealthGuide/IllnessConditions/topic.asp
NORD - National Organization For Rare Disorders, Inc.
coffin lowry syndrome. To purchase fulltext report ($7.50) Copyright 1987,1989, 1995, 1997, 2002 Synonyms of coffin lowry syndrome Coffin Syndrome;
http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Coffin Lowry

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

1-20 of 94 1 | 2 | 3 | 4 | 5 | Next 20