Last edited by Tojazahn
Monday, July 27, 2020 | History

1 edition of Stickler syndrome found in the catalog.

Stickler syndrome

a bibliography and dictionary for physicians, patients, and genome researchers [to internet references]

by James N. Parker

  • 137 Want to read
  • 2 Currently reading

Published by ICON Health Publications in San Diego, CA .
Written in English

    Subjects:
  • Bibliography,
  • Diseases,
  • MEDICAL,
  • Dictionaries,
  • Orthopedics,
  • Musculoskeletal,
  • Computer network resources,
  • HEALTH & FITNESS,
  • Stickler syndrome,
  • Rheumatology

  • Edition Notes

    StatementJames N. Parker and Philip M. Parker, editors
    SeriesA 3-in-1 medical reference, 3-in-1 medical reference
    Classifications
    LC ClassificationsRC924.5.S75 S75 2007eb
    The Physical Object
    Format[electronic resource] :
    Pagination1 online resource.
    ID Numbers
    Open LibraryOL27089367M
    ISBN 10142949638X
    ISBN 109781429496384
    OCLC/WorldCa174134813

    Stickler syndrome is a group of genetic disorders that affects connective tissue, specifically collagen. The condition is characterized by facial abnormalities, ocular problems, hearing loss, and joint problems. What other names do people use for Stickler syndrome? Stickler syndrome is also referred to as hereditary arthro-ophthalmo-dystro-. PAUL D. SPONSELLER, in Surgical Management of Spinal Deformities, STICKLER SYNDROME. Stickler syndrome (hereditary arthro-ophthalmopathy) is an autosomal dominant disorder of collagen types II or XI. It is characterized by ocular abnormalities (retinal degeneration or myopia), craniofacial abnormalities (cleft palate, retrognathia), hearing loss, and hip and/or .

    Stickler syndrome, is sometimes called Stickler's dysplasia (hereditary progrerssive arthro-ophalmo-dystrophy).It is a rare medical condition discovered by Gunnar B. Stickler in the early s. It affects the way a person produces collagen.. When someone has Stickler's they may have problems with their joints, eyes, ears, heart, and in some rare cases their skin. Stickler Syndrome. Stickler syndrome is an autosomal dominant (with variable expressivity) connective tissue disorder with predominantly ophthalmic, orofacial, auditory, and articular manifestations and has been divided into three types (type 1 and 2 .

    Stickler syndrome is an abnormal condition that causes severe problems in various parts of the body such as eyes, ears and joints. It is also called ‘hereditary progressive arthro-ophthalmopathy’ and is usually diagnosed during infancy. Stickler syndrome, types I, II and III, Marshall syndrome and autosomal recessive Stickler syndrome - Stickler syndrome (types I, II & III) and related Marshall syndrome are autosomal dominantly inherited disorders caused by defects in three genes. Stickler syndrome, type I (classical type, STL1; MIM ) is due to mutations in COL2A1. read more.


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Stickler syndrome by James N. Parker Download PDF EPUB FB2

Stickler syndrome is a genetic disorder that can cause serious vision, hearing and joint problems. Also known as hereditary progressive arthro-ophthalmopathy, Stickler syndrome is usually diagnosed during infancy or childhood. Children who have Stickler syndrome often have distinctive facial features — prominent eyes, a small nose with a.

Stickler syndrome is a group of hereditary conditions characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems. These signs and symptoms vary widely among affected individuals.

A characteristic feature of Stickler syndrome is a somewhat flattened facial appearance. This appearance results from underdeveloped bones. Stickler syndrome (hereditary progressive arthro-ophthalmodystrophy) is a group of very rare genetic disorders affecting connective tissue, specifically collagen.

Stickler syndrome is a subtype of collagenopathy, types II and er syndrome is characterized by distinctive facial abnormalities, ocular problems, hearing loss, and joint and skeletal lty: Medical genetics. Stickler syndrome is a connective tissue disorder that can include ocular findings of myopia, cataract, and retinal detachment; hearing loss that is both conductive and sensorineural; midfacial underdevelopment and cleft palate (either alone or as part of the Robin sequence); and mild spondyloepiphyseal dysplasia and/or precocious arthritis.

Variable phenotypic expression. Stickler syndrome is caused by mutations in certain genes involved in the formation of collagen — one of the building blocks of many types of connective tissues.

The type of collagen most commonly affected is that used to produce joint cartilage and the jellylike material (vitreous) found within the eyes. Stickler – The Elusive Syndrome NEW REVISED EDITION, STILL THE ONLY BOOK ON THE DISORDER This new edition explains from a layperson’s viewpoint, what Stickler Syndrome is, its genetic implications, its basic medical manifestations, and how it can affect the individual.

Stickler: the Elusive Syndrome Paperback – November 1, by Wendy L. Hughes (Author) Stickler syndrome book all 2 formats and editions Hide other formats and editions. Price New from Used from Paperback "Please retry" $ $ $ Paperback, November 1, Price: $ Stickler syndrome is a progressive disorder, and parents will need to feel that they can approach school personnel and teachers openly and honestly about their student’s condition.

It is also important to note that parents and other family members such as siblings may also be dealing with complications from Stickler syndrome.

While Stickler syndrome can sometimes be diagnosed based on your child's medical history and a physical exam, additional tests are needed to determine the severity of the symptoms and help direct treatment decisions.

Tests may include: Imaging tests. X-rays can reveal abnormalities or damage in the joints and spine. Stickler Syndrome Basic Information for Patients and Families Stickler syndrome is a genetic disorder affecting collagen throughout the body.

Collagen is a primary part of connective tissue like bone, skin and cartilage. Stickler syndrome is an autosomal dominant genetic condition.

This means it can occur equally in males or femalesFile Size: KB. Option of prenatal testing exists for fetuses at 50% risk for Stickler syndrome if a mutation in COL2A1 or COL11A1 has been identified in the affected parent molecular testing performed either on sample from chorionic villus sampling (CVS) at about weeks' gestation or amniocentesis at weeks' gestation.

Stickler Syndrome UK. likes. Stickler syndrome is a common but little recognised genetic disorder. One in 10, persons may be ers: Stickler Syndrome type II (Stickler Syndrome Vitreous type II; Beaded Vitreous Stickler Syndrome type II) is characterized by the usual clinical characteristic of ocular, auditory, and orofacial features seen in Stickler syndrome but with the architecture of an abnormal vitreous.

This sign is a hallmark of this syndrome and is a prerequisite. Stickler syndrome is a group of hereditary connective tissue disorders characterized by distinctive facial features, eye abnormalities, hearing loss, and joint symptoms of Stickler syndrome may vary but include near-sightedness (), retinal detachment, underdevelopment of the middle of the face, and the development of arthritis at a.

Stickler syndrome affects males as well as females. Prevalence rates have been estimated at births and at 1 per 7, births.

Most investigators believe that the disorder is highly under-diagnosed, making it difficult to determine the true prevalence of Stickler syndrome in the general population. Stickler Syndrome - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers [Parker, Philip M.] on *FREE* shipping on qualifying offers.

Stickler Syndrome - A Bibliography and Dictionary for Physicians, Patients, Price: $ Type I: In this type of Stickler syndrome has the greatest risk of retinal cause of type I of Stickler syndrome is mutagenic abnormality in COL2A1 gene on chromosome 12q Type II: Eye abnormalities with prominent hearing loss are also common symptoms of type II Stickler cause of type II of Stickler syndrome is a mutagenic abnormality in.

Stickler syndrome is a genetic disorder caused by mutations in genes that are responsible for forming collagen, proteins which add strength and elasticity to connective tissue.

Stickler syndrome affects connective tissue throughout the body, but most notably in the eyes (it is the most common cause of retinal detachment in children), ears, face, and joints. Stickler Syndrome.

GTR Test ID Help Each Test is a specific, orderable test from a particular laboratory, and is assigned a unique GTR accession number. The format is GTR, with a leading prefix 'GTR' followed by 8 digits, a period, then 1 or more digits representing the version.

Using clinical data on 22 patients from 6 families with type I Stickler syndrome and known mutations in COL2A1, Rose et al. () developed a diagnostic nosology based on molecular or family history data and characteristic ocular, orofacial, auditory, and musculoskeletal findings. In 90 patients from 38 families who presented for evaluation of possible Stickler syndrome, Rose.

Stickler syndrome refers to a group of disorders primarily affecting connective tissue. Pathology Several gene mutations have been idntified dependent on specific sub types which include: Stickler syndrome type I: COL2A1 Stickler syndrome typ.This prompted Dr Stickler to study the family.

Who is affected? Stickler Syndrome affects around 1 in 7, to 9, new born babies. If a parent has Stickler syndrome, there is a 50% chance of any children developing the condition.

There are also recorded cases where the condition has occurred for the first time in a child.Stickler syndrome is an autosomal dominant genetic disorder which means that affected individuals have a 50 percent chance of passing along the syndrome. Symptoms Children with Stickler syndrome may have difficulty breathing in infancy due to tongue-based obstruction secondary to a cleft palate and small lower jaw.