81. The Smith-Lemli-Opitz Syndrome -- Kelley And Hennekam 37 (5): 321 -- Journal Of An additional case of SmithLemli-opitz syndrome in a 46,XY infant with femaleexternal Smith-Lemli-opitz syndrome is caused by mutations in the 7- http://jmg.bmjjournals.com/cgi/content/full/37/5/321

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS Author Keyword(s) Vol Page [Advanced] This Article Abstract Full Text (PDF) Submit a response ... Citation Map Services Email this link to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Cited by other online articles PubMed PubMed Citation Articles by Kelley, R. I Articles by Hennekam, R. C M Related Collections Genetics J Med Genet 321-335 ( May ) Review article The Smith-Lemli-Opitz syndrome Richard I Kelley a , Raoul C M Hennekam b a The Johns Hopkins University, Kennedy Krieger Institute, 707 North Broadway, Baltimore, Maryland 21205, USA, b Institute for Human Genetics and Department of Paediatrics, Academic Medical Centre, University of Amsterdam, Meibergreef 15, 1105 AZ Amsterdam, The Netherlands Correspondence to: Dr Hennekam, Abstract Top Abstract History Clinical overview Natural history Differential diagnosis Sterol biosynthesis Molecular genetics Biochemical diagnosis Management References The Smith-Lemli-Opitz syndrome (SLOS) is one of the archetypical multiple congenital malformation syndromes. The recent discovery

82. Smith-Lemli-Opitz Syndrome: A Variable Clinical And Biochemical Phenotype -- Rya We have reviewed all known UK cases of SmithLemli-opitz syndrome. Sterol balancein the Smith-Lemli-opitz syndrome reduction in whole body cholesterol http://jmg.bmjjournals.com/cgi/content/abstract/35/7/558

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS Author Keyword(s) Vol Page [Advanced] This Article Submit a response Alert me when this article is cited Alert me when eLetters are posted Alert me if a correction is posted ... Citation Map Services Email this link to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Cited by other online articles PubMed PubMed Citation Articles by Ryan, A. K. Articles by Burn, J. Journal of Medical Genetics, 1998, Vol 35, 558-565 ARTICLES Smith-Lemli-Opitz syndrome: a variable clinical and biochemical phenotype AK Ryan, K Bartlett, P Clayton, S Eaton, L Mills, D Donnai, RM Winter and J Burn Department of Human Genetics, University of Newcastle upon Tyne, UK. We have reviewed all known UK cases of Smith-Lemli-Opitz syndrome. Among 49 cases with proven 7-dehydrocholesterol reductase deficiency, half had been

83. Opitz Syndrome Lié à L X Translate this page Base de données sur les maladies rares et les médicaments orphelins. http://www.orpha.net/static/FR/opitz_syndrome_lie_a_lx.html

84. NEJM -- Diagnosis Of Smith-Lemli-Opitz Syndrome Correspondence from The New England Journal of Medicine Diagnosis ofSmithLemli-opitz syndrome. http://content.nejm.org/cgi/content/short/330/23/1685

HOME SEARCH CURRENT ISSUE PAST ISSUES ... HELP Please sign in for full text and personal services Previous Volume 330:1685-1687 June 9, 1994 Number 23 Next Diagnosis of Smith-Lemli-Opitz Syndrome Since this article has no abstract, we have provided an extract of the first 100 words of the full text and any section headings. Full Text Add to Personal Archive Add to Citation Manager E-mail When Cited ... PubMed Citation To the Editor: Tint et al. (Jan. 13 issue) reported a biochemical defect in cholesterol biosynthesis that gives rise to a well-recognized dysmorphic syndrome, the Smith-Lemli-Opitz syndrome. Plasma from affected children contains a high concentration of the cholesterol precursor 7-dehydrocholesterol and a low level of cholesterol. The risk of recurrence of this autosomal recessive condition in a subsequent child is 1 in 4, and to date, prenatal ultrasound scanning has been of limited use We have used biochemical testing to perform a successful prenatal diagnosis. The first child of the couple requesting the prenatal diagnosis had the Full Text of this Article References Related Letters: Medical Schools and Home Care Steel R. K., Musliner M., Boling P. A.

85. NEJM -- Defective Cholesterol Biosynthesis Associated With The Smith-Lemli-Opitz Rod Photoreceptor Responses in Children With SmithLemli-opitz syndrome. Smith-Lemli-opitz syndrome carrier frequency and spectrum of DHCR7 mutations http://content.nejm.org/cgi/content/abstract/330/2/107

HOME SEARCH CURRENT ISSUE PAST ISSUES ... HELP Please sign in for full text and personal services Previous Volume 330:107-113 January 13, 1994 Number 2 Next Defective Cholesterol Biosynthesis Associated with the Smith-Lemli-Opitz Syndrome G Stephen Tint, Mira Irons, Ellen Roy Elias, Ashok K. Batta, Roger Frieden, Thomas S. Chen, and Gerald Salen Full Text Letters Add to Personal Archive Add to Citation Manager ... PubMed Citation ABSTRACT Background The Smith-Lemli-Opitz syndrome (frequency, 1:20,000 to 1:40,000) is defined by a constellation of severe birth defects affecting most organ systems. Abnormalities frequently include profound mental retardation, severe failure to thrive, and a high infant-mortality rate. The syndrome has heretofore been diagnosed only from its clinical presentation. Methods Using capillary-column gas chromatography-mass spectrometry, we measured the sterol composition of plasma, erythrocytes, lens, cultured fibroblasts, and feces from five children with the syndrome (three girls and two boys). Results Plasma cholesterol levels were abnormally low (8 to 101 mg per deciliter [0.20 to 2.60 mmol per liter]) in every

86. Cholesterol Metabolism And Suicidality In Smith-Lemli-Opitz SmithLemli-opitz syndrome has an estimated incidence of between one in In all instances, Smith-Lemli-opitz syndrome carriers were identified as the http://ajp.psychiatryonline.org/cgi/content/full/161/11/2123

87. Smith-Lemli-Opitz Syndrome - General Practice Notebook SmithLemli-opitz syndrome. Described by Smith in 1964, this syndrome includesmicrocephaly, growth and mental retardation, unusual facial appearance, http://www.gpnotebook.co.uk/cache/1476788271.htm

Smith-Lemli-Opitz syndrome Described by Smith in 1964, this syndrome includes microcephaly, growth and mental retardation, unusual facial appearance, syndactyly of toes 2 and 3, and genital abnormalities. Multiple major structural abnormalities are the exception in SLOS patients surviving infancy. Facial anomalies include ptosis, micrognathia and anteverted nares. Genital abnormalities occur in males, and include hypospadias, cleft scrotum and cryptorchidism. Developmental defects are generally associated with severe mental retardation, although borderline normal intelligence has been reported. A more severe phenotype, SLOS type II, was recognised in 1987. Infants have multiple major structural abnormalities and male pseudohermaphroditism; most die in the neonatal period. Both phenotypes seem to be inherited as an autosomal recessive trait, and are now thought to reflect different mutations within the same (as yet unidentified) gene. It is more commonly diagnosed in males because genital ambiguity is more obvious. Cholesterol levels are very low.

88. ScienceDaily -- Browse Topics: Health/Conditions_and_Diseases/Genetic_Disorders/ Zach s opitz syndrome Site Offers information, a family s experience with thissyndrome and links to the Opitz Family Network. Family Village - Opitz G http://www.sciencedaily.com/directory/Health/Conditions_and_Diseases/Genetic_Dis

@import "/styles/navbar.css"; @import "/styles/tabStyles.css"; Set home page Bookmark site Add search Latest News ... Email to friend Text Size A A A Front Page ... Genetic Disorders : Opitz Syndrome Subtopics See Also: Health: Conditions and Diseases: Nutrition and Metabolism Disorders Health: Conditions and Diseases: Rare Disorders Search Google: Opitz Syndrome News Books Links ... UF Scientist Finds Unexpected Link Between Cat And Human AIDS Viruses (September 9, 2005) full story Mayo Clinic Develops New Coma Measurement System (September 8, 2005) full story Nitric Oxide Could Extend Fertility (September 8, 2005) Biochemistry , an American Chemical Society journal. full story Flipped, Expelled, Copied, And Shrunk: Researchers Document Dramatic Genome Alterations During Primate Evolution (September 6, 2005) Genome Research presents a series of studies that provide insight into the evolution and variation of primate genomes. The issue will appear online and in print on September 1, concomitant with the publication of the chimpanzee genome sequence in the journal Nature full story Discovery Will Aid Identification Of Misregulated Genes In Rett Syndrome (September 4, 2005)

89. Diagnosis Of Smith-Lemli-Opitz Syndrome From Stored Filter Paper Blood Specimens The autosomal recessive disorder SmithLemli-Opitz (SLO) syndrome was formerlydiagnosed from A case report of a girl with Smith-Lemli-opitz syndrome, http://adc.bmjjournals.com/cgi/content/full/82/6/490

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS Author Keyword(s) Vol Page [Advanced] This Article Abstract Full Text (PDF) Submit a response ... Alert me if a correction is posted Services Email this link to a friend Similar articles in ADC Online Similar articles in PubMed Alert me to new issues of the journal ... Cited by other online articles PubMed PubMed Citation Articles by Starck, L Related Collections Genetics Nutrition and Metabolism Arch Dis Child 490-492 ( June ) Diagnosis of Smith-Lemli-Opitz syndrome from stored filter paper blood specimens L Starck a b a Karolinska Institutet, Sachs' Children's Hospital, S-118 95 Stockholm, Sweden, b Division of Clinical Chemistry, Huddinge University Hospital, Huddinge, Sweden Correspondence to: Dr Starck email: Accepted 4 February 2000 Abstract Top Abstract Introduction Materials and methods Results Discussion References BACKGROUND Smith-Lemli-Opitz (SLO) syndrome is a recessively inheritable metabolic disease with deficiency of cholesterol and accumulation of dehydrocholesterols, caused by a defect in the last step of

90. 7-Dehydrocholesterol Down-regulates Cholesterol Biosynthesis In Cultured Smith-L Sterol balance in the SmithLemli-opitz syndrome reduction in whole bodycholesterol synthesis and normal bile acid production J. Lipid Res., September 1, http://www.jlr.org/cgi/content/abstract/39/3/647

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article Full Text Full Text (PDF) Purchase Article ... Citation Map Services Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager ... Cited by other online articles PubMed PubMed Citation Articles by Honda, M. Articles by Shefer, S. The Journal of Lipid Research, Vol. 39, 647-657, March 1998 Lipid Research, Inc. Original Article 7-Dehydrocholesterol down-regulates cholesterol biosynthesis in cultured Smith-Lemli-Opitz syndrome skin fibroblasts Megumi Honda a,c , G. S. Tint a,c,d , Akira Honda a,c , Lien B. Nguyen a,c , Thomas S. Chen b,d , and Sarah Shefer a,c a Department of Medicine, University of Medicine and Dentistry of New Jersey-New Jersey Medical School, Newark, NJ 07103 b Department of Pathology, University of Medicine and Dentistry of New Jersey-New Jersey Medical School, Newark, NJ 07103 c The Liver Center, University of Medicine and Dentistry of New Jersey-New Jersey Medical School, Newark, NJ 07103

91. JAPMA -- Sign In Page SmithLemli-opitz syndrome is an autosomal recessive disorder due to a defect in Patients with Smith-Lemli-opitz syndrome may not often present to a http://www.japmaonline.org/cgi/content/full/91/3/149

HOME HELP FEEDBACK SUBSCRIPTIONS ... SEARCH This item requires a subscription to Journal of the American Podiatric Medical Association Online. Full Text Smith-Lemli-Opitz Syndrome: A Genetic Disorder with Pedal Manifestations Sheff J Am Podiatr Med Assoc. This Article Full Text (PDF) Alert me when this article is cited Alert me if a correction is posted Services Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager PubMed PubMed Citation Articles by Sheff, J. S. To view this item, select one of the options below: Sign In User Name Sign in without cookies. Can't get past this page? Help with Cookies. Need to Activate? Password Forgot your user name or password? Purchase Short-Term Access Pay per Article - You may access this article (from the computer you are currently using) for 1 day for US$12.00 Regain Access - You can regain access to a recent Pay per Article purchase if your access period has not yet expired. Sign Up Subscribe to the Journal - Subscribe to the print and/or online journal.

92. Opitz G,Opitz, Syndrome, Lucas, Lucas Towstego, Towstego, G Syndrome, Bbb Syndro A description of opitz G/BBB syndrome. http://www.apollos.net/arena/opitz/definition.html

Opitz G/BBB Family Connection (Canada) 4525 Hillbank Road, British Columbia V0R 1N0 Phone: 250-748-5944 Fax:250-748-5988 Definition of Opitz G/BBB Syndrome Not intended for Diagnosis Opitz G/BBB syndrome is known by many syndrome names including: Opitz, Opitz-Frias, G, BBB, and Hypertelorism- hypospadias syndromes. This genetic condition includes a variety of midline anomalies. The degree of involvement among individuals , even within the same family, can vary greatly. Opitz G/BBB syndrome involves midline anomalies. Most often these include wide-set eyes and other features (hypertelorism), an abnormal opening in the penis (hypospadias), swallowing defects (dysphagia), an abnormality of the anal opening (imperforate anus), undescended testes (cryptorchidism), and a variety of clefts. Often there is a brain malformation called agenesis of the corpus callosum. In addition to these most common manifestations, there are many other anomalies associated with Opitz G/BBB syndrome. An individual does not have to exhibit each of these to have the diagnosis. These manifestations may include: It is important to prevent aspirations as pneumonias and damage to the lungs may result. Aspiration prevents oxygen from reaching the brain and may be responsible for mental deficiencies. Aspirations may cause death. Alternative feeding methods, including g-tubes are often used.

93. "Opitz Syndrome" "Opitz GBBB Syndrome" FG Syndrome Opitznet Online support and information for families with opitz G/BBB syndrome. Provides families with easyto-read information about the syndrome. http://www.opitznet.org

Welcome to the Opitz Family Network @ opitznet.org At this site you will find family-friendly information and links for the Opitz G/BBB and FG syndromes. As more research is made regarding two of the syndromes described by Dr. John M. Opitz: G/BBB and FG, clinical geneticists are more able to diagnose individuals accurately. In the past, many individuals have received the diagnosis of G/BBB (Opitz-Frias, G Syndrome), when now it is believed that FG syndrome may be a more accurate diagnosis for many of our families. This site was developed by Jan Wharton , mother of a child with FG syndrome, NOT by medical professionals. Nothing at this site is intended for diagnosis Topics at this site Opitz G/BBB Syndrome FG Syndrome Opitz G/BBB Family Network Conferences ... Other "Opitz" syndromes Logo was designed for the Opitz G/BBB Family Network specifically and is used under license of Karen G. Frandsen. P.O. Box 515, Grand Lake, CO 80447 USA

94. Opitz G,Opitz, Syndrome, Lucas, Lucas Towstego, Towstego, G Syndrome, Bbb Syndro opitz G/BBB Family Connection A group of families dedicated to sharing theirexperiences with others. http://www.apollos.net/arena/opitz/parents_description_of_g.html

Opitz G/BBB Family Connection (Canada) 4525 Hillbank Road, British Columbia V0R 1N0 Phone: 250-748-5944 Fax:250-748-5988 Parents' Description of Opitz G/BBB Syndrome (Not intended for diagnosis) Opitz G/BBB syndrome, Opitz syndrome, G syndrome, BBB syndrome, Opitz BBB/G syndrome, Hypospadias-Dysphagia syndrome, Opitz-Frias syndrome, Oculogenitolaryngeal syndrome, and Hypertelorism-Hypospadias syndrome are all names for the same condition. With this syndrome there can be different manifestations in individuals, even within the same family. This genetic syndrome includes a variety of midline and bilateral anomalies. A genetic syndrome is an hereditary condition caused by the genes of the family and ancestors of the affected child. It is not caused by something the mother did, or did not do, while pregnant. When an individual has a genetic syndrome they have manifestations, or anomalies, that are similar to other individuals who have the same syndrome. An anomaly is anything this is differently formed. The degree of involvement among individuals, even within the same family, can vary greatly. Opitz G/BBB syndrome is considered "uncommon." The number of affected individuals is unknown as the syndrome is not always accurately diagnosed. With careful medical treatment it is possible for individuals who have Opitz G/BBB syndrome to live long lives.

95. SLOS Network Welcome to The SmithLemli-opitz/RSH syndrome (SLO/RSH) Network A site that isdedicated to relaying information as well as providing an open forum of http://www.med.unc.edu/~hwaage/SLO.html

Remembering September 11, 2001 Welcome to The Smith-Lemli-Opitz/RSH syndrome (SLO/RSH) Network A site that is dedicated to relaying information as well as providing an open forum of communication for SLOS families. Here you will find a chat room, email list-serve and links to related sites. There is also a recent news section that will keep members informed about upcoming meetings and events. There is also a research area that contains relevant articles of interest that are downloadable in .pdf form. If you have any suggestions for additions to the website please email me and I will be happy to make additions. Diagnosis In addition to growth retardation and developmental delay, many different malformations have been described in SLO/RSH. The most common defects are: - Microcephaly (small head) - Extra fingers or toes - Apparently low-set ears - Small, upturned nose - Webbing between 2nd and 3rd toes - Abnormal palmar creases (usually single) - Cleft palate - Hypospadias (genital malformation in boys) - Cataracts - Undescended testicles - Blepharoptosis (drooping eyelids) - Heart defects - Micrognathia (small chin) - Pyloric stenosis - Short thumbs - Hirschsprung disease (absent nerves in colon) Some children will have only one or two minor malformations, such as webbing of the toes and cleft soft palate, whereas others will have almost all of the defects listed above. Because of the possibility of internal malformations, patients with SLO/RSH should be evaluated carefully at birth, especially for heart and kidney defects. Often, children with SLO/RSH resemble one another more than others in their families. Whereas prior to 1993 the diagnosis of SLO/RSH rested entirely on the clinical judgment of a geneticist or other specialist, a biochemical test for abnormal cholesterol metabolism is now used to confirm a suspected diagnosis of SLO/RSH.

96. Opitz G/BBB,Opitz G/BBB,Opitz G/BBB Syndrome,BBBG Syndrome opitz G/BBB,opitz G/BBB,opitz G/BBB syndrome,BBBG syndrome,Hypertelorism withEsophageal Abnormalities and Hypospadias,HypertelorismHypospadias syndrome http://www.icomm.ca/geneinfo/opitzgbbb.htm

97. Opitz G/BBB Syndrome You have reached the website of of the opitz G/BBB Family Network. For moreinformation on opitz G/BBB syndrome and its challenges click to enter. http://www.rkymtnhi.com/opitz/

98. Opitz G/BBB Syndrome Synonyms, Eastern Carolina opitz G/BBB syndrome Synonyms University Health Systems of Eastern Carolinaserves tarboro, ahoskie, edento, winsor, maxhead, dear county, http://www.uhseast.com/113762.cfm

Health News Health Library Health Topics Healthy Living ... Nutrition Information on diseases and health concerns, including symptoms, treatment options, and prevention. Opitz G/BBB Syndrome Synonyms Disorder Subdivisions General Discussion Resources ... For a Complete Report Important It is possible that the main title of the report Opitz G/BBB Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Synonyms Opitz Syndrome BBBG Syndrome Hypertelorism with Esophageal Abnormalities and Hypospadias Hypertelorism-Hypospadias Syndrome Hypospadias-Dysphagia Syndrome Opitz BBB Syndrome Opitz BBBG Syndrome Opitz BBB/G Compound Syndrome Opitz G Syndrome Opitz Hypertelorism-Hypospadias Syndrome Opitz Oculogenitolaryngeal Syndrome Opitz-Frias Syndrome Telecanthus-Hypospadias Syndrome Opitz Syndrome Disorder Subdivisions BBB Syndrome (Opitz) G Syndrome General Discussion Opitz Syndrome was originally categorized as two distinct disorders: i.e., Opitz G and Opitz BBB Syndromes. Yet many investigators have since determined that the disorders represent the same clinical entity with different modes of genetic transmission. The form of the disorder previously designated as Opitz BBB Syndrome is transmitted as an X-linked trait. This X-linked disorder appears to be caused by changes (mutations) of a gene, known as MID1 (for "midline-1"), that is located on the short arm (p) of chromosome X (Xp22). The form originally classified as Opitz G Syndrome is inherited as an autosomal dominant trait. It is thought to result from deletions of genetic material from the long arm (q) of chromosome 22 (22q11.2).

99. ORPHANET® : Base De Données Sur Les Maladies Rares Et Les Médicaments Orpheli FG syndrome, opitzKaveggia syndrome, multiple congenital anomalies, The opitzsyndrome gene product, MID1, interacts with the gene product of an http://orphanet.infobiogen.fr/data/patho/GB/uk-FG.html

FG syndrome Author: Prof. John M. Opitz Scientific editor: Prof. Didier Lacombe Creation date: September 2001 Update: July 2003 Disease name and synonyms Excluded disorders Diagnostic criteria and definition Nosology ... References Disease name and synonyms FG syndrome Opitz-Kaveggia syndrome, includes the neurofaciodigitorenal (NFDR) syndrome and probably some cases of the Neuhäuser megalocornea syndrome. Syndrome FGS1 Megalocornea-Mental Retardation syndrome Excluded disorders For the moment the Opitz (G/BBB) syndromes are excluded. Opitz syndrome. Diagnostic criteria and definition Nosology Primarily with the "Opitz" (G/BBB) syndromes which show extensive overlap with FG except that laryngeal cleft, pulmonary agenesis or hypoplasia and tetralogy of Fallot have been seen only in the G/BBB syndrome so far. Prevalence The disease is possibly as common as 1:1,000 in the population of the Utah valley, but apparently common elsewhere in the US and in Italy.

100. Syndrome De Smith-Lemli-Optiz : Sites Et Documents Francophones Translate this page Smith-Lemli-opitz, syndrome de - Synonyme(s) 7-déhydrocholestérol réductase,déficit en Par Dr Wolf C. Site éditeur Orphanet base de données sur les http://www.chu-rouen.fr/ssf/pathol/smithlemliopitzsyndrome.html

Syndrome de Smith-Lemli-Optiz Synonyme(s) CISMeF 7-déhydrocholestérol réductase, déficit en ; Smith-Lemli-Optiz ; smith-Lemli-Opitz, syndrome . Synonyme(s) MeSH Malformation complexe de Smith-Lemli-Opitz ; Nanisme de Smith-Lemli-Opitz ; Syndrome RSH ; Syndrome de Smith-Lemli-Opitz de type 1 ; Syndrome de Smith-Lemli-Opitz de type 2 ; Syndrome de Smith-Lemli-Opitz de type I ; Syndrome de Smith-Lemli-Opitz de type II Arborescence(s) syndrome de Smith-Lemli-Optiz smith-lemli-opitz syndrome maladies et malformations congénitales, héréditaires et néonatales métabolisme et nutrition, maladies Position du mot-clé dans l' (les) arborescence(s) : Vous pouvez consulter toutes les ressources ou seulement les principales ou utiliser l' outil de recherche les recommandations les documents concernant l' enseignement les documents destinés aux patients Ou consulter ci-dessous une sélection des principales ressources : Qualificatifs : diagnostic patient Smith-Lemli-Opitz, syndrome de - Synonyme(s) : 7-déhydrocholestérol réductase, déficit en [Par Dr Wolf C.

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

Page 5     81-100 of 102    Back | 1  | 2  | 3  | 4  | 5  | 6  | Next 20