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Achondroplasia: more books (16)

Achondroplasia - A Medical Dictionary, Bibliography, and Annotated Research Guide to Internet References by ICON Health Publications, 2004-03-23
Achondroplasia: Webster's Timeline History, 1885 - 2007 by Icon Group International, 2009-06-06
Human Achondroplasia: A Multidisciplinary Approach (Basic Life Sciences) (Vol 48)
Achondroplasia - A Medical Dictionary, Bibliography, and Annotated Research Guide to Internet References - SECOND EDITION by Icon Group International, 2009-09-15
Growth Disorders: Achondroplasia, Dwarfism, Acromegaly, Primordial Dwarfism, Psychosocial Short Stature, Midgetville, Silver-russell Syndrome
Achondroplasia Its Nature and Its Cause by Murk Jansen, 1912
Gale Encyclopedia of Medicine: Achondroplasia by Rosalyn Carson-DeWitt MD, 2002-01-01
Achondroplasia - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers by Philip M. Parker, 2007-07-19
Achondroplasia: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Kathleen, MS Fergus, 2005
Achondroplasia: An entry from Gale's <i>Gale Encyclopedia of Medicine, 3rd ed.</i> by Rosalyn, MD Carson-DeWitt, 2006
Fetology: Diagnosis and Management of the Fetal Patient, Second Edition by Diana Bianchi, Timothy Crombleholme, et all 2010-04-23
Never Sell Yourself Short (Concept Books (Albert Whitman)) by Stephanie Riggs, 2001-01-01
HECTOR'S INHERITANCE by Horatio Alger, 2010-02-12
Hector's Inheritance - Horatio Alger, JR. by JR. Horatio Alger, 2010-01-28

lists with details

Achondroplasia:Help And Information From The UK
Help and Information about the condition called Achondroplasisa,with indepth information, pictures of people with the condition and an open forum.
http://www.achondroplasia.co.uk/
Achondroplasia
GeneReviews entry expert authored peer reviewed Disease characteristics. achondroplasia is characterized by abnormal bone growth that results in Genetic counseling. achondroplasia is inherited in an autosomal dominant manner
http://www.geneclinics.org/profiles/achondroplasia/details.html

Extractions: 31 July 2003 Disease characteristics. Achondroplasia is characterized by abnormal bone growth that results in short stature with disproportionately short arms and legs, a large head, and characteristic facial features. Intelligence and life span are usually normal, although there is an increased risk for death in infancy from compression of the spinal cord and/or upper airway obstruction. Diagnosis/testing. Achondroplasia can be diagnosed by characteristic clinical and radiographic findings in most affected individuals. In individuals who may be too young to diagnose with certainty or in individuals with atypical findings, molecular genetic testing can be used to detect a mutation in the gene (chromosomal locus 4p16.3). Such testing detects mutations in 99% of affected individuals and is available in clinical laboratories. Genetic counseling Achondroplasia is inherited in an autosomal dominant manner. Over 80% of individuals with achondroplasia have parents with normal stature and have achondroplasia as the result of a
Achondroplasia
a CHORUS notecard document about achondroplasia Feedback. Search. achondroplasia. most common type of short limbed dwarfism; caused by defect in enchondral bone formation
http://chorus.rad.mcw.edu/doc/01026.html
MedlinePlus Medical Encyclopedia: Achondroplasia
sized trunk, and waddling gait. achondroplasia is the most common type of dwarfism. achondroplasia can be inherited as an autosomal dominant
http://www.nlm.nih.gov/medlineplus/ency/article/001577.htm

Extractions: @import url(http://www.nlm.nih.gov/medlineplus/images/advanced.css); Skip navigation Other encyclopedia topics: A-Ag Ah-Ap Aq-Az B-Bk ... Z Contents of this page: Definition Achondroplasia is a disorder of bone growth that causes the most common type of dwarfism Causes, incidence, and risk factors Achondroplasia is an inherited disorder of bone growth. It is one of the group of disorders that are collectively called chondrodystrophies or osteochondrodysplasias. The disorder causes a type of dwarfism that is recognized by its characteristic normal to large-sized head, shortened arms and legs (especially the upper arm and thigh), a normal-sized trunk, and waddling gait . Achondroplasia is the most common type of dwarfism. Achondroplasia can be inherited as an autosomal dominant trait, which means that if a child gets the defective gene from one parent, he or she will have the disorder. However, the majority of cases, approximately 80%, appear as spontaneous mutations. This means that two patients without achondroplasia may give birth to a baby with achondroplasia. If one parent has achondroplasia, the infant has a 50% chance of inheriting the disorder. If both parents have the condition, the infant's chances of being affected increase to 75%. Symptoms Typical appearance of achondroplastic dwarfism is apparent at birth: Short stature Short limbs
Achondroplasia
achondroplasia. view 18 KB version. view 9 KB version. This girl has short limbs relative to trunk length. Note also the prominent forehead, low nasal root, and redundant skin folds in the arms and
http://medgen.genetics.utah.edu/photographs/pages/achondroplasia.htm
Achondroplasia
achondroplasia. By the Human Growth Foundation. Copyright © 1996 by the Human Growth Foundation. All rights reserved. Acknowledgements. The Human Growth Foundation is a nonprofit volunteer organization. More than 100 specific skeletal dysplasias have been identified. Of these, achondroplasia is the most common
http://home.earthlink.net/~dkennedy56/dwarfism_hgfachon.html

Extractions: The Human Growth Foundation is a nonprofit volunteer organization. Its mission is to help individuals with growth-related disorders, their families, and health-care professionals through education, research, and advocacy. It is composed of concerned parents and friends of children with growth problems and interested health professionals. Its objectives include: This booklet was written by Charles I. Scott Jr., MD. This edition was revised and edited by Clair A. Francomano, MD; William Horton, MD; Patricia Rieser, FNP-C; Ruth E. Ricker; and the Education Committee of the Human Growth Foundation. Publication sponsored by Human Growth Foundation and the National Center for Human Genome Research. Revised August 1996. In memory of Eric Vonderlieth There are many conditions and diseases that can cause short stature. Some of these conditions involve a primary bone disorder the bones do not grow and develop normally. These conditions are called
Achondroplasia:Help And Information From The UK
Health supervision. From 1 to 5 years early childhood. Examination. 1. Assess the child s growth and development as charted on the achondroplasia growth charts.
http://www.achondroplasia.co.uk/childhood.html

Extractions: 1. Assess the child's growth and development as charted on the achondroplasia growth charts. Obtain lower segment measurements once weight bearing is established. 2. Continue to follow head growth. 3. Continue to watch for thoracolumbar gibbus and development of lumbar lordosis. Discuss avoiding the use of walkers, jumpers, or backpack carriers. Any kyphosis present should disappear as the child begins to bear weight. Weight-bearing and walking may occur late; however, they are expected by 2 years of age. When weight-bearing begins, the external rotation of the hips should self-correct to a normal orientation within 6 months. 4. Anticipate some bowing of the legs because of fibular overgrowth at the knees and ankles. If bowing leads to an inability to walk, consult a pediatric orthopedist. 5. Check the childÕs hips for hip flexion contractures. Prescribe exercises that may decrease lumbar lordosis and hip flexion contractures [19]. Check the hips for external rotation. Refer the child to a pediatric orthopedist, if necessary. 6. Speech evaluation should be done no later than 2 years of age. If speech is abnormally delayed conductive hearing loss due to chronic serious otitis media should be excluded.
Medical References: Achondroplasia
achondroplasia, a genetic disorder of bone growth evident at birth, is the most common growth related birth defect. achondroplasia What is achondroplasia?
http://www.marchofdimes.com/professionals/681_1204.asp

Extractions: The word achondroplasia is derived from Greek and means "without cartilage formation," although individuals with achondroplasia do have cartilage. During fetal development and childhood, cartilage normally develops into bone, except in a few places, such as the nose and ears. In individuals with achondroplasia, something goes wrong during this process, especially in the long bones (such as those of the upper arms and thighs). The rate at which cartilage cells in the growth plates of the long bones turn into bone is slow, leading to short bones and reduced height.
Medical References: Achondroplasia
Quick Reference and Fact Sheets. achondroplasia What is achondroplasia? achondroplasia is a genetic disorder of bone growth that is evident at birth.
http://www.marchofdimes.com/printableArticles/681_1204.asp

Extractions: The word achondroplasia is derived from Greek and means "without cartilage formation," although individuals with achondroplasia do have cartilage. During fetal development and childhood, cartilage normally develops into bone, except in a few places, such as the nose and ears. In individuals with achondroplasia, something goes wrong during this process, especially in the long bones (such as those of the upper arms and thighs). The rate at which cartilage cells in the growth plates of the long bones turn into bone is slow, leading to short bones and reduced height.
Achondroplasia - Health And Medical Information: Diseases And Conditions, Medica
What is achondroplasia? achondroplasia is a genetic (inherited) condition that results in abnormally short stature. All persons
http://www.medicinenet.com/Achondroplasia/article.htm

Extractions: Achondroplasia is a genetic (inherited) condition that results in abnormally short stature. All persons with achondroplasia are little people. The average height of an adult with achondroplasia is 131 cm (52 inches, or 4 foot 4) in males and 124 cm (49 inches, or 4 foot 1) in females. Achondroplasia is the most common cause of short stature with disproportionately short limbs. Achondroplasia is a disorder of bone growth. Although achondroplasia literally means "without cartilage formation," the problem in achondroplasia is not in forming cartilage but in converting it to bone, particularly in the long bones. Achondroplasia is one of the oldest known birth defects. The frequency of achondroplasia is estimated to range from about 1 in 10,000 births in Latin America to about 12 in 77,000 in Denmark. An average figure worldwide is approximately 1 in 25,000 births.
Medical References: Achondroplasia
achondroplasia, a genetic disorder of bone growth evident at birth, is the most common growth related birth defect. Affected individuals have disproportionally short arms and legs and other What
http://www.modimes.org/professionals/681_1204.asp

Extractions: The word achondroplasia is derived from Greek and means "without cartilage formation," although individuals with achondroplasia do have cartilage. During fetal development and childhood, cartilage normally develops into bone, except in a few places, such as the nose and ears. In individuals with achondroplasia, something goes wrong during this process, especially in the long bones (such as those of the upper arms and thighs). The rate at which cartilage cells in the growth plates of the long bones turn into bone is slow, leading to short bones and reduced height.
GeneReviews: Achondroplasia
Your browser does not support HTML frames so you must view achondroplasia in a slightly less readable form. Please follow this link to do so.
http://www.geneclinics.org/profiles/achondroplasia/
Johns Hopkins Orthopaedic Surgery: Pediatrics / Achondroplasia
Patient Guide to achondroplasia. What is achondroplasia? achondroplasia refers to the abnormal development of cartilage ( chondro ).
http://www.hopkinsmedicine.org/orthopedicsurgery/peds/achondroplasia.html

Extractions: "Dyplasia" means abnormal development. "Achondroplasia" refers to the abnormal development of cartilage ("chondro"). Because the skeleton develops by the ossification of cartilage, this leads to an abnormal development of the bones, most commonly causing them to be much shorter than normal. Achondroplasia is the most common of all skeletal dysplasias. This condition leads to patients attaining a full grown height under four feet. The greatest shortening occurs in the humerus (the bone between the shoulder and the elbow) and the femur (the bone between the hip and the knee). There may also be underdevelopment of the face. What causes achondroplasia? Achondroplasia is a genetic disease. This means that a gene that directs a specific process in the body does not work properly. In this particular condition, a protein in the body called the "Fibroblast Growth Factor Receptor" begins to function abnormally. The result is that the growth of bones, which normally occurs in the cartilage of the growth plate, is slowed. This leads to shorter bones, abnormally shaped bones, and shorter stature.
Achondroplasia
achondroplasia. Subject achondroplasia Title achondroplasia Author(s)JournalBookVol Date 85/5 Page(s)Organization March of Dimes Birth Defects Foundation, Genetic Counseling Svcs.
http://med-aapos.bu.edu/PediRef/Achondroplasia.html
Achondroplasia
This is a technical description of the dwarfing conditions known as achondroplasia. Greenberg Center for Skeletal Dysplasias. achondroplasia.
http://www.hopkinsmedicine.org/greenbergcenter/achon.htm

Extractions: Greenberg Center for Skeletal Dysplasias Achondroplasia Achondroplasia is the most common form of short-limb dwarfism. It occurs in approximately 1 in 26,000 to 1 in 40,000 births. The characteristic features of achondroplasia are apparent at birth. These include typical facial features, disproportionate short stature, and rhizomelic (the proximal ends of the limbs) shortening. Diagnosis of achondroplasia is made by physical exam and skeletal x-rays. Most individuals have normal intelligence. Infants and children often have motor delays but cognitive delays are not present. A special infant developmental chart has been made for children with achondroplasia. Final adult height is in the range of 4 feet. Special achondroplasia growth curves have also been made. These should be used by the child's pediatrician to monitor growth and development. The facial features include a large head with a prominent forehead. The midface is often small with a flat nasal bridge and narrow nasal passages. In infancy and childhood, middle ear infections often occur because of the small nasal passages and Eustachian tube dysfunction. If the ear infections are left untreated, hearing loss can occur. "Ear tubes" are probably indicated for a child with multiple ear infections. The jaw appears to be prominent. Occasionally dental crowding can occur since the jaw is small. Respiratory problems can occur in infants and children. Airway obstruction can be "central" in origin (due to foramen magnum compression) or "obstructive" in origin (due to narrowed nasal passages). Symptoms of airway obstruction include snoring, sleeping with the neck in a hyperextended position, or apnea. A sleep study is done if these symptoms exist to determine the cause of the airway obstruction. Treatment depends on the type of obstruction. I f central obstruction is present, a foramen magnum decompression is performed (see below). If obstructive airway obstruction is present, therapy can include tonsillectomy, adenoidectomy, or tracheostomy placement.
Www.nlm.nih.gov/cgi/mesh/2K/MB_cgi?term=Achondroplasia
More results from www.nlm.nih.gov HealthCentral Pediatrics Encyclopedia - achondroplasia Pediatric Health Encyclopedia, achondroplasia. Causes, incidence, and risk factors achondroplasia is an inherited disorder of bone growth.
http://www.nlm.nih.gov/cgi/mesh/2K/MB_cgi?term=Achondroplasia
Musculoskeletal Diseases
achondroplasia. About achondroplasia Greenberg C., Johns Hopkins (US). achondroplasia - March of Dimes (US). achondroplasia Information and Support - (UK).
http://www.mic.ki.se/Diseases/C05.html

Extractions: Diseases and Disorders Links pertaining to Musculoskeletal Diseases Alert! Patients and laypersons looking for guidance among the target sources of this collection of links are strongly advised to review the information retrieved with their professional health care provider. Start Page Contents: Achondroplasia Achondroplasia Acquired Hyperostosis Syndrome Acrocephalosyndactylia ... Tietze's Syndrome Musculoskeletal Diseases Textbook of Orthopaedics [CR Wheeless] Educational textbook syllabus [Borrill et al.] - Orthoteers (UK) The Belgian OrthoWeb - (BE) Site Map of the Orthopaedics and Sports Medicine resource at Univ of Washington, Seattle (US) The American Academy of Orthopaedic Surgeons A Musculoskeletal Atlas and a set of educational cases (radiol.) - U of Washington (US) OrthoLinx WorldOrtho including A Simple Guide to Orthopaedics [RL Huckstep] - Nepean Hosp., Sydney (AU) A collection of Case discussions at OrthoGate.org An orthopedic Encyclopedia - for patients - DynoMed.com
Achondroplasia 4-1521
The Teddy Bear Foundation For achondroplasia Us, achondroplasia. States; Turner Syndrome Society of Canada. Copyright © 1998, The Teddy Bear Foundation For achondroplasia, Inc.
http://www.sbu.ac.uk/~dirt/museum/p4-1521.html

Extractions: To see Images first. Achondroplasia is the commonest disproportionate dwarfism. It is inherited as an autosomal dominent. 85% of case incidence is from a spontaneous mutation. The main feature is a symmetrical proximal limb shortening, rhizomelia, the humeri and femora are particularly affected. Metaphyseal irregularity takes the form of cupping or a 'V' shaped metaphyseal notch. The other features are: Smaller square iliac bones, horizontal acetabular roofs, delayed appearance of ossification, pelvic tilt with lumbar lordosis, narrow sacro-iliac notch, flattened verebral bodies, occasional short a-p diameter of vertebrae or occasionial bullet shape to anterior vertebral border, spinal stenosis, posterior scalloping of vertebrae, small skull base, compensating large vault with appearance of frontal bossing, small foramen magnum, short ribs with widened anterior ends, Trident hand, similar lengths of generally shorter fingers. Neurological bladder and hydrocephalus may complicate the axial stenoses. Various anatomic expressions of pathology.
FOMOTC: Florida Orgaization Of Mothers Of Twins Clubs
Monday, May 10, 2004 TeddyBear Foundation for achondroplasia, Inc. PO Box 148 Fanwood, NJ 07023 Phone (908) 8897666 FAX (908) 889-7717.
http://www.teddybearfoundation.org/
Uhrad.com - Pediatric Imaging Teaching Files
uhrad.com Pediatric Imaging Teaching Files. Case Forty Three - achondroplasia. Click on Images for Enlarged View Diagnosisachondroplasia.
http://www.uhrad.com/pedsarc/peds043.htm

Extractions: Click on Images for Enlarged View Clinical History: Patient is a short-limbed dwarf with relatively long trunk and a large head with a prominent forehead. Radiologic Findings: : (a) short flat vertebral bodies, lack of normal increase in interpediculate distance from upper lumbar vertebrae caudally, short pedicles with narrow vertebral canal; (b) squared iliac wings, short narrow sciatic notch, flat acetabular roof; ( c ) micromelia, short and thick tubular bones, notched (V-shaped) growth plates creating ball-in-socket epiphyseal-metaphyseal junctions, flared metaphyses, fibular overgrowth. Diagnosis: Achondroplasia. Discussion: Achondroplasia is the most common nonlethal skeletal dysplasia with a frequency of approximately 1 per 13,500-26,000 live births. The mode of inheritance is autosomal dominant with spontaneous mutations accounting for 80-85% of cases. The patient's mentality is usually normal. Other radiologic manifestations include a large skull with a relatively small base, a narrow foramen magnum and a small posterior fossa. In the infant, the normal sharp demarcation of the cartilage-shaft junction is lacking in the long bones, the cartilage space between opposing bones is excessively wide and, in the spine, the intervertebral spaces are often as high as the ossified portions of the bodies. With increasing age, posterior scalloping of the vertebral bodies is noted. Clinical complications of achondroplasia include hydrocephalus and paraplegia from the constrictive effects of the skull and spine.

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