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         Treacher Collins Syndrome:     more detail
  1. Treacher Collins Syndrome - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers by Philip M. Parker, 2007-07-20
  2. Treacher Collins syndrome: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Amie, MS Stanley, 2005

81. Characterization Of The Nucleolar Gene Product, Treacle, In Treacher Collins Syn
treacher collins syndrome (TCS) is an autosomal dominant disorder of Mutations in the treacher collins syndrome gene lead to mislocalization of the
http://www.molbiolcell.org/cgi/content/full/11/9/3061
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This Article Abstract 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 ... Cited by other online articles PubMed PubMed Citation Articles by Isaac, C. Articles by Meier, U. T. Vol. 11, Issue 9, 3061-3071, September 2000
Characterization of the Nucleolar Gene Product, Treacle, in Treacher Collins Syndrome
Cynthia Isaac, Karen L. Marsh, William A. Paznekas, Jill Dixon, Michael J. Dixon, Ethylin Wang Jabs, and U. Thomas Meier Department of Anatomy and Structural Biology, Albert Einstein College of Medicine, Bronx, New York 10461; School of Biological Sciences and Departments of Dental Medicine and Surgery, University of Manchester, Manchester M13 9PT, United Kingdom; and Center for Craniofacial Development and Disorders, McKusick-Nathans Institute of Genetic Medicine, Departments of Pediatrics, Medicine, and Plastic Surgery, The Johns Hopkins University School of Medicine Baltimore, Maryland 21287 Submitted May 9, 2000; Revised June 19, 2000; Accepted June 26, 2000

82. Characterization Of The Nucleolar Gene Product, Treacle, In Treacher Collins Syn
treacher collins syndrome (TCS) is an autosomal dominant disorder of craniofacial The treacher collins syndrome (TCOF1) gene product is involved in
http://www.molbiolcell.org/cgi/content/abstract/11/9/3061
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This Article Full Text 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 ... Cited by other online articles PubMed PubMed Citation Articles by Isaac, C. Articles by Meier, U. T. Vol. 11, Issue 9, 3061-3071, September 2000
Characterization of the Nucleolar Gene Product, Treacle, in Treacher Collins Syndrome
Cynthia Isaac, Karen L. Marsh, William A. Paznekas, Jill Dixon, Michael J. Dixon, Ethylin Wang Jabs, and U. Thomas Meier Department of Anatomy and Structural Biology, Albert Einstein College of Medicine, Bronx, New York 10461; School of Biological Sciences and Departments of Dental Medicine and Surgery, University of Manchester, Manchester M13 9PT, United Kingdom; and Center for Craniofacial Development and Disorders, McKusick-Nathans Institute of Genetic Medicine, Departments of Pediatrics, Medicine, and Plastic Surgery, The Johns Hopkins University School of Medicine Baltimore, Maryland 21287 Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development caused by mutations in the gene . Its gene product, treacle, consists mainly of a central

83. Prenatal Diagnosis In Treacher Collins Syndrome Using Combined Linkage Analysis
treacher collins syndrome is an autosomal dominant disorder of facial treacher collins syndrome with novel ophthalmic findings and visceral anomalies
http://jmg.bmjjournals.com/cgi/content/abstract/33/7/603

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ARTICLES
Prenatal diagnosis in Treacher Collins syndrome using combined linkage analysis and ultrasound imaging
SJ Edwards, A Fowlie, MP Cust, DT Liu, ID Young and MJ Dixon
School of Biological Stlences, University of Manchester, UK. Treacher Collins syndrome is an autosomal dominant disorder of facial development, the features of which include conductive hearing loss and

84. Treacher Collins Connection
Mission To build a community of people with treacher collins syndrome and their Treacher Collins treacher collins syndrome is a genetic craniofacial
http://www.tcconnection.org/aboutus.html
CONNECTING PEOPLE
one step at a time
Mission : To build a community of people with Treacher Collins syndrome and their families in an environment that transforms people through face to face sharing of stories, surgeries, pictures, heartaches, and love. Tre acher Collins: Treacher Collins syndrome is a genetic craniofacial syndrome that is characterized by a range of distinctive facial anomalies. The main characteristics of TCS are downward slanting eyes, small lower jaw, and malformed or missing ears. These anomalies cause hearing, breathing, and eating problems. Individuals and families also struggle with the psychological aspects of having a facial difference. About 1 in every 10,000 babies is born with TCS. For more information about Treacher Collins syndrome and to view personal experiences of people with TCS, please visit www.treachercollins.org Vision : Each event is essential in many ways; not only is it important for people with TCS to meet others like them, it is equally important to network about medical doctors, procedures, and hospitals. The TCC will organize at least one yearly event to bring together those with TCS and their families. History Five volunteers founded the TCC in 2001 as a result of successfully organizing the first TCS retreat. Over 65 people attended the first retreat and as a result, we will now have an annual TCS retreat. Over 100 people attended our 2002 TCS retreat on June 28-30 in Columbia, MD.

85. Arch Otolaryngol Head Neck Surg -- Abstract: Pharyngeal Hypoplasia In Treacher C
Examination of 11 patients with treacher collins syndrome (TCS), with the use of multipleview videofluoroscopy and nasopharyngoscopy of the pharynx,
http://archotol.ama-assn.org/cgi/content/abstract/105/3/127
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Pharyngeal hypoplasia in Treacher Collins syndrome
R. J. Shprintzen, C. Croft, M. D. Berkman and S. J. Rakoff
Examination of 11 patients with Treacher Collins syndrome (TCS), with the use of multiple-view videofluoroscopy and nasopharyngoscopy of the pharynx, disclosed marked narrowing of the airway. In several patients, the pharynx was less than 1 cm in width at its most narrow point. It is thought that reduced airway in TCS may help to explain the frequent reports of neonatal death associated with the syndrome. Pharyngeal narrowing was found

86. Treacher Collins Family Support Group
Information regarding the syndrome, genetics, hearing aids, links and support groups.
http://www.treachercollins.net

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87. MedlinePlus Medical Encyclopedia: Treacher-Collins Syndrome
treachercollins syndrome is a hereditary condition that causes facial defects. treacher-collins syndrome is inherited as an autosomal dominant trait.
http://www.nlm.nih.gov/medlineplus/ency/article/001659.htm
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Treacher-Collins syndrome
Contents of this page: Alternative names Mandibulofacial dysostosis Definition Return to top Treacher-Collins syndrome is a hereditary condition that causes facial defects. Causes, incidence, and risk factors Return to top Treacher-Collins syndrome is inherited as an autosomal dominant trait. More than half of all cases are thought to be new mutations because there is no family history of the disease. A defective gene, called treacle, is the cause of this disease. This condition has variable expression, which means there may be a great variation in severity from generation to generation. Symptoms Return to top
  • Abnormal to almost completely absent external ears Hearing loss Very small jaw ( micrognathia Very large mouth Defect in the lower eyelid ( coloboma Scalp hair extends onto cheeks Cleft palate
Signs and tests Return to top The child usually will show normal intelligence. Examination of the infant can show various abnormalities, including:

88. ► Treacher-Collins Syndrome
A medical encycopedia article on the topic treacher-collins syndrome.
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Treacher-Collins syndrome
Overview Symptoms Treatment Prevention Definition:
Treacher-Collins syndrome is a hereditary condition that causes facial defects.
Alternative Names: Mandibulofacial dysostosis
Causes, incidence, and risk factors: Treacher-Collins syndrome is inherited as an autosomal dominant trait. More than half of all cases are thought to be new mutations because there is no family history of the disease. A defective gene, called treacle, is the cause of this disease. This condition has variable expression, which means there may be a great variation in severity from generation to generation.
Review Date: 10/28/2001
Reviewed By: David G. Brooks, M.D., Ph.D., Division of Medical Genetics, University of Pennsylvania Medical Center, Philadelphia, PA. Review provided by VeriMed Healthcare Network.

89. Treacher-Collins' Syndrome, Vanderbilt Craniofacial Treatment Center
treacher collins syndrome, VUMC Med Art Group. treachercollins syndrome. treacher-collins’ syndrome is characterized by lack of bone development in the
http://surgery.vanderbilt.edu/surgery/plastic/cfa/treacher.htm
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90. AllRefer Health - Treacher-Collins Syndrome (Mandibulofacial Dysostosis)
treachercollins syndrome (Mandibulofacial Dysostosis) information center covers causes, prevention, symptoms, diagnosis, treatment, incidence, risk factors
http://health.allrefer.com/health/treacher-collins-syndrome-info.html

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Alternate Names : Mandibulofacial Dysostosis Definition Treacher-Collins syndrome is a hereditary condition that causes facial defects. Treacher-Collins syndrome is inherited as an autosomal dominant trait. More than half of all cases are thought to be new mutations because there is no family history of the disease. A defective gene, called treacle, is the cause of this disease. This condition has variable expression, which means there may be a great variation in severity from generation to generation.
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... Calling Your Health Care Provider Topics that might be of interest to you Other Topics Autosomal Dominant Coloboma of the Iris Genetic Counseling and Prenatal Diagnosis Hearing Loss ... Vision Problems Review Date : 8/6/2003 Reviewed By : Douglas R. Stewart, M.D., Division of Medical Genetics, Hospital of the University of Pennsylvania, Philadelphia, PA. Review provided by VeriMed Healthcare Network.

91. AllRefer Health - Treacher-Collins Syndrome Support Groups (Mandibulofacial Dyso
treachercollins syndrome (Mandibulofacial Dysostosis) information center covers Support Groups.
http://health.allrefer.com/health/treacher-collins-syndrome-support.html

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Alternate Names : Mandibulofacial Dysostosis Support Groups Treacher Collins Foundation
www.treachercollinsfnd.org

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Treatment Prognosis ... Complications Support Groups Calling Your Health Care Provider Topics that might be of interest to you Other Topics Autosomal Dominant Coloboma of the Iris Genetic Counseling and Prenatal Diagnosis Hearing Loss ... Vision Problems Review Date : 8/6/2003 Reviewed By : Douglas R. Stewart, M.D., Division of Medical Genetics, Hospital of the University of Pennsylvania, Philadelphia, PA. Review provided by VeriMed Healthcare Network.

92. Treacher-Collins Syndrome Medical Information
treachercollins syndrome Information from Drugs.com.
http://www.drugs.com/enc/treacher_collins_syndrome.html

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Treacher-Collins syndrome
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Treacher-Collins syndrome
Definition
Treacher-Collins syndrome is a hereditary condition that causes facial defects.
Alternative Names
Mandibulofacial dysostosis
Causes
Treacher-Collins syndrome is inherited as an autosomal dominant trait. More than half of all cases are thought to be new mutations because there is no family history of the disease. A defective gene, called treacle, is the cause of this disease. This condition has variable expression, which means there may be a great variation in severity from generation to generation.
Symptoms
  • Abnormal to almost completely absent external ears Hearing loss Very small jaw ( micrognathia Very large mouth Defect in the lower eyelid ( coloboma Scalp hair extends onto cheeks Cleft palate
Exams and Tests
The child usually will show normal intelligence. Examination of the infant can show various abnormalities, including:

93. OMIM - TREACHER COLLINS-FRANCESCHETTI SYNDROME; TCOF

http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=154500

94. Treacher-Collins Syndrome - Alegent Health Serving Eastern Nebraska And Southwes
treachercollins syndrome - courtesy of Alegent Health serving eastern Nebraska and southwest Iowa - Council Bluffs, Iowa - Corning, Iowa - Missouri Valley,
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Treacher-Collins syndrome
Definition: Treacher-Collins syndrome is a hereditary condition that causes facial defects.
Alternative Names: Mandibulofacial dysostosis
Causes, incidence, and risk factors: Treacher-Collins syndrome is inherited as an autosomal dominant trait. More than half of all cases are thought to be new mutations because there is no family history of the disease. A defective gene, called treacle, is the cause of this disease. This condition has variable expression, which means there may be a great variation in severity from generation to generation.
Symptoms:
  • Abnormal external ears to almost complete absence of an ear Hearing loss Very small jaw ( micrognathia Extra large mouth Defect in the lower eyelid ( coloboma Scalp hair extends onto cheeks Cleft palate

Signs and tests: The child usually will show normal intelligence. Examination of the infant can show various abnormalities, including:
  • Abnormal eye shape (palpebral fissure, antimongoloid slant)

95. Definition Of Treacher-Collins Syndrome - EarSurgery.com
treachercollins syndrome A developmental complex in which the afflicted usually has underdeveloped cheek bones, a downward slant of the eyes, a small chin,
http://www.earsurgery.com/content/glossary/treacher-collinssyndrome.html
Treacher-Collins Syndrome
A developmental complex in which the afflicted usually has underdeveloped cheek bones, a downward slant of the eyes, a small chin, and bilateral microtia.

96. IngentaConnect Treacher-Collins Syndrome And Co-Existing Dermatomyositis
Methods We report a patient with treachercollins syndrome who developed Results No other patient with both treacher-collins syndrome and an
http://www.ingentaconnect.com/content/acaai/aaai/1998/00000080/00000001/art00011

97. Weyers' Syndrome II (www.whonamedit.com)
Miller s syndrome NagerDe Reynier syndrome treacher collins syndrome treacher collins syndrome, or mandibulofacial dysostosis syndrome, is entered as
http://www.whonamedit.com/synd.cfm/2001.html

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Weyers' syndrome II Also known as: Curry-Hall syndrome Miller's syndrome Nager-De Reynier syndrome Treacher Collins' syndrome Weyers' acrodysplasia Weyers' syndrome III Synonyms: Acrodental dysostosis, acrofacial dysostosis, acrofacial syndrome, dysplasia acro-dentalis, dysostosis acrofacialis. Associated persons: George Andreas Berry Cynthia J. R. Curry Ekkart Genée Bryan D. Hall ... Hans-Rudolf Wiedemann Description: A syndrome present from birth, affecting both sexes, characterised by postaxial polydactyly of the hands and feet, hexadactyly and fusion of 5th and 6th metatarsals and metacarpals, and bony clefts of the mandibular symphysis. Other features include anomalies of lower incisors and oral vestibule, ear anthelices, hypoplastic and dysplastic nails, and mild shortness of stature. Inheritance is autosomal dominant with variable expression. Miller's syndrome is entered as Genée-Wiedemann syndrome or diasease, under Ekkart Genée, German ophthalmologist, born 1936.

98. Treacher-Collins Syndrome
Federally Funded Research on treachercollins syndrome. The National Library of Medicine PubMed Academic Periodicals covering treacher-collins syndrome
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ICON Health Publications
Official Health Sourcebooks Search ICON Health Titles: TREACHER-COLLINS SYNDROME
A Bibliography, Medical Dictionary,
and
Annotated Research Guide to Internet References

(Franceschetti-Zwalen-Klein syndrome; mandibulofacial dysostosis; Treacher-Collins-Franceschetti syndrome 1)
E B O O K Electronic File * E-Book version sent via e-mail in 2 business days Pages Price $28.95(USD) ISBN Published Synopsis In March 2001, the National Institutes of Health issued the following warning: "The number of Web sites offering health-related resources grows every day. Many sites provide valuable information, while others may have information that is unreliable or misleading." Furthermore, because of the rapid increase in Internet-based information, many hours can be wasted searching, selecting, and printing. Since only the smallest fraction of information dealing with Treacher-Collins syndrome is indexed in search engines, such as www.google.com or others, a non-systematic approach to Internet research can be not only time consuming, but also incomplete. This book was created for medical professionals, students, and members of the general public who want to conduct medical research using the most advanced tools available and spending the least amount of time doing so. Related Conditions/Synonyms Franceschetti-Zwalen-Klein syndrome; mandibulofacial dysostosis; Treacher-Collins-Franceschetti syndrome 1

99. Dr. Koop - Treacher-Collins Syndrome
treachercollins syndrome is a hereditary condition that causes facial defects.
http://www.drkoop.com/ency/93/001659prv.html
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Treacher-Collins syndrome
Alternative Names: Mandibulofacial dysostosis
Prevention: Genetic counseling is appropriate for prospective parents with a family history of Treacher-Collins syndrome.
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100. Treacher-Collins Syndrome
treachercollins syndrome is a hereditary condition that causes facial defects.
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Treacher-Collins syndrome
Overview Symptoms Treatment Prevention Alternative Names: Mandibulofacial dysostosis Treatment: Treatment consists of testing for and treating any hearing loss so a child can perform up to normal level in school. Plastic surgery can address the receding chin and other defects. Support Groups: Treacher Collins Foundation
www.treachercollinsfnd.org

Expectations (prognosis): Children with Treacher-Collins should grow to become normally functioning adults of normal intelligence. Careful attention to any hearing problems helps ensure better performance in school. Complications:
  • Feeding difficulty Speaking difficulty Communication problems Vision problems Cosmetic appearance can cause other people to think the problem is worse than it is
Calling your health care provider: This condition is usually apparent at birth. Call your health care provider if you have a child with Treacher-Collins syndrome and the hearing appears to be worse, or if other problems arise. A good plastic surgeon is very important as there is sometimes a need for a series of operations over years to correct birth defects.

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