1
40
3
-
Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
URL Address
<a href="http://doi.org/10.1097/BPO.0b013e31815ff2d9" target="_blank" rel="noreferrer noopener">http://doi.org/10.1097/BPO.0b013e31815ff2d9</a>
Rights
Article information provided for research and reference use only. All rights are retained by the journal listed under publisher and/or the creator(s).
Pages
60-67
Issue
1
Volume
28
Search for Full-text
Locate full-text within NEOMED Library's e-journal collections
<p>Users with a NEOMED Library login can search for full-text journal articles at the following url: <a href="https://libraryguides.neomed.edu/home">https://libraryguides.neomed.edu/home</a></p>
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
A name given to the resource
The 3-dimensional configuration of the typical foot and ankle in diastrophic dysplasia
Publisher
An entity responsible for making the resource available
Journal of Pediatric Orthopaedics
Date
A point or period of time associated with an event in the lifecycle of the resource
2008
2008-01
Subject
The topic of the resource
deformities; diastrophic dwarfism; diastrophic dysplasia; dwarfism; Orthopedics; pathoanatomy; Pediatrics
Creator
An entity primarily responsible for making the resource
Weiner D S; Jonah D; Kopits S
Description
An account of the resource
Background: Surgical correction of the foot and ankle in patients with diastrophic dysplasia is extremely difficult secondary to the markedly distorted pathoanatomy. Several authors have described superficially some of the clinical and radiographic findings typical of the foot and ankle with diastrophic dysplasia; however, no description of the specific osseous deformities has been described in the literature. The purpose of this article was to provide such a model, detailing the nature of deformity of each of the bones and joints in the foot and ankle and their relationship to each other from a pathoanatomical standpoint. Methods: A 3-dimensional sculpted model and detailed drawings were developed based on radiographs, computed tomography reconstructions, and direct observation both in and out of surgery. Fifty-three patients representing 106 feet formed the basis of this analysis (age,. 3 days to 32 years). An additional 12 feet of the senior author's cases provided further confirmation of these deformities. Results: Superficially, the apparent deformity most closely resembles a Z-type foot or serpentine foot. The overall deformity bears no true resemblance to the idiopathic clubfoot. Typically, the hindfoot is in severe equinus with the subtalar joint being deformed into valgus and moving more posteriorly. In contrast to the idiopathic clubfoot, the navicular was markedly angulated laterally on the talus. The medial cuneiform was deviated medially on the navicular articulation. The forefoot was foreshortened and in marked varus positioning with varus of the entire metatarsals. The second to fifth metatarsals bend and curve near their bases as they tilt toward the first metatarsal. Conclusion: The disturbed pathoanatomy of the diastrophic dysplasia foot and ankle reflects the difficulties in achieving any substantial surgical correction without customization. Surgical management of the foot and ankle in diastrophic dysplasia must be individualized and based on a clear understanding of the unique segmental malalignment of the foot and ankle. Level of Evidence: Level I.
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1097/BPO.0b013e31815ff2d9" target="_blank" rel="noreferrer noopener">10.1097/BPO.0b013e31815ff2d9</a>
Format
The file format, physical medium, or dimensions of the resource
Journal Article
2008
deformities
diastrophic dwarfism
diastrophic dysplasia
Dwarfism
Jonah D
Journal Article
Journal of Pediatric Orthopaedics
Kopits S
Orthopedics
Pathoanatomy
Pediatrics
Weiner D S
-
Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
URL Address
<a href="http://doi.org/10.1097/BPO.0b013e3181e27f12" target="_blank" rel="noreferrer noopener">http://doi.org/10.1097/BPO.0b013e3181e27f12</a>
Rights
Article information provided for research and reference use only. All rights are retained by the journal listed under publisher and/or the creator(s).
Pages
403-410
Issue
4
Volume
30
Search for Full-text
Locate full-text within NEOMED Library's e-journal collections
<p>Users with a NEOMED Library login can search for full-text journal articles at the following url: <a href="https://libraryguides.neomed.edu/home">https://libraryguides.neomed.edu/home</a></p>
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
A name given to the resource
The 3-dimensional Configuration of the Typical Hip and Knee in Diastrophic Dysplasia
Publisher
An entity responsible for making the resource available
Journal of Pediatric Orthopaedics
Date
A point or period of time associated with an event in the lifecycle of the resource
2010
2010-06
Subject
The topic of the resource
arthroplasty; chondrocytes; diastrophic dwarfism; diastrophic dysplasia; dwarfism; joint; Orthopedics; pathoanatomy; Pediatrics; proteoglycans; sulfate transporter
Creator
An entity primarily responsible for making the resource
Weiner D S; Jonah D; Kopits S
Description
An account of the resource
Purpose: Surgical correction of the hip and knee in patients with diastrophic dysplasia is extremely difficult secondary to the markedly distorted pathoanatomy of both the bone and soft tissues. The objective of this study is to provide a 3-dimensional model and carefully and extensively describe the pathoanatomy of the diastrophic hip and knee. Methods: Three-dimensional computer model reconstructions were developed based on clinical, radiographic, and surgical observations performed "meticulously" by a single surgeon on 110 hips in 55 patients. An additional 13 patients seen by another surgeon were also reviewed. In addition to the clinical and radiographic evaluations, 10 computed tomographic scans were performed of the pelvis and hip areas and 53 arthrograms were done in 13 patients. Sixty-six patients underwent a myriad of operative procedures on the hip and proximal femur. Results: The typical pathoanatomy seen in cases of diastrophic dysplasia reflects the severe and rampantly progressive flexion deformity of the hip and knee with time, and the anatomical aberrations of development of the proximal femur and the knee joint, which are highlighted in our computer model. Replacement arthroplasty at the hip and knee may hold the only solution to adolescents and adults with advanced disease; however, the unavailability of long-term data precludes a reasonable management recommendation. Conclusions: The disturbed pathoanatomy of the diastrophic dysplasia hip and knee reflects the difficulties in achieving any substantial surgical correction even with customization. This report provides the most extensive 3-dimensional pathoanatomical observations as yet presented in the literature.
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1097/BPO.0b013e3181e27f12" target="_blank" rel="noreferrer noopener">10.1097/BPO.0b013e3181e27f12</a>
Format
The file format, physical medium, or dimensions of the resource
Journal Article
2010
Arthroplasty
Chondrocytes
diastrophic dwarfism
diastrophic dysplasia
Dwarfism
joint
Jonah D
Journal Article
Journal of Pediatric Orthopaedics
Kopits S
Orthopedics
Pathoanatomy
Pediatrics
proteoglycans
sulfate transporter
Weiner D S
-
Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
URL Address
<a href="http://doi.org/10.1542/peds.144.2_MeetingAbstract.755" target="_blank" rel="noreferrer noopener">http://doi.org/10.1542/peds.144.2_MeetingAbstract.755</a>
Pages
1-1
Volume
144
Search for Full-text
Locate full-text within NEOMED Library's e-journal collections
<p>Users with a NEOMED Library login can search for full-text journal articles at the following url: <a href="https://libraryguides.neomed.edu/home">https://libraryguides.neomed.edu/home</a></p>
NEOMED College
NEOMED College of Medicine
NEOMED Department
NEOMED Student Publications
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
A name given to the resource
The Orthopaedic Manifestations of Pseudoachondroplasia
Publisher
An entity responsible for making the resource available
Pediatrics; Evanston
Date
A point or period of time associated with an event in the lifecycle of the resource
2019
2019-08
Subject
The topic of the resource
Achondroplasia; Apoptosis; Arthritis; Biomechanics; Bone (axial); Bone dysplasia; Bones; Cartilage; Cartilage (articular); Cartilage oligomeric matrix protein; Chondrocytes; Chromosome 19; Chromosomes; Dwarfism; Dysplasia; Elbow; Elbow (anatomy); Epiphysis; Extremities; Feet; Gait; Hand (anatomy); Hip; Intelligence; Joint diseases; Knee (anatomy); Kyphosis; Medical Sciences--Pediatrics; Mutation; Orthopedics; Plates (structural members); Proteins; Radiographs; Radiography; Skeleton; Thorax; Vertebra; Vertebrae
October 2019 Update
Creator
An entity primarily responsible for making the resource
Guirguis James; Weiner Dennis S
Description
An account of the resource
In 1959, Maroteaux and Lamy initially designated pseudoachondroplasia as a distinct dysplasia different from achondroplasia, which is the most common form of skeletal dysplasia associated with dwarfism. Pseudoachondroplasia is the second-most common form of skeletal dysplasia. Pseudoachondroplasia is caused by a mutation in the COMP gene on chromosome 19p13.1-p12 encoding the cartilage oligomeric matrix protein. The mutation causes an accumulation of mutated COMP protein within the rough endoplastic reticulum of chondrocytes leading to premature chondrocyte apoptosis. This cascade of molecular events eventually results in rendering the articular cartilage and growth plate cartilage incapable of withstanding routine biomechanical loads with resultant deformity of the joints, particularly in the lower extremities. A unique opportunity to review charts and radiographs of 141 patients with pseudoachondroplasia allowed the author to assemble the typical findings in pseudoachondroplasia. This cohort, to our knowledge, represents the largest group of patients describing the typical orthopaedic manifestations of pseudoachondroplasia. The intensive review of this cohort yielded the following clinical and radiographic information: Patients with pseudoachondroplasia have a normal craniofacial appearance and are of normal intelligence. Short stature is not present at birth and generally appears by 2 to 4 years of age. The condition is a form of spondyloepiphyseal dysplasia and the long bones are characterized by dysplastic changes in the epiphysis, metaphysis, and vertebral bodies. The hands have short, stubby fingers, short metacarpals, lax wrists, diminished extension of the elbow, and limitation of shoulder motion. Occasionally odontoid dysplasia is seen with kyphosis, scoliosis, and lumbar lordosis, commonly. The gait is characterized by "waddling". The knees show either genu valgum, genu varum, or "windswept" deformity and the feet and ankles are in pronovalgus position with short, wide feet. Radiographically the long bones have altered appearance and structure of the epiphyses with small irregularly formed or fragmented epiphyses or flattening. The metaphyseal regions of the long bones show flaring, widening, or "trumpeting". The cervical vertebrae show platyspondyly. The thoracic and lumbar vertebrae show either platyspondyly, ovoid, "cod-fish" deformity, or anterior "beaking". Most commonly these distortions of the long bones and the axial skeleton, lead to premature arthritis particularly of the hips and often the knees not uncommonly in the 20- to 30-year-old age group. Vertebral "beaking" (Image 1) Epimetaphyseal dysplasia (Image 2)
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1542/peds.144.2_MeetingAbstract.755" target="_blank" rel="noreferrer noopener">10.1542/peds.144.2_MeetingAbstract.755</a>
Rights
Information about rights held in and over the resource
Article information provided for research and reference use only. All rights are retained by the journal listed under publisher and/or the creator(s).
2019
Achondroplasia
Apoptosis
Arthritis
biomechanics
Bone (axial)
Bone dysplasia
Bones
Cartilage
Cartilage (articular)
Cartilage oligomeric matrix protein
Chondrocytes
Chromosome 19
Chromosomes
Dwarfism
Dysplasia
Elbow
Elbow (anatomy)
Epiphysis
Evanston
Extremities
Feet
Gait
Guirguis James
Hand (anatomy)
Hip
Intelligence
Joint diseases
Knee (anatomy)
Kyphosis
Medical Sciences--Pediatrics
Mutation
NEOMED College of Medicine
NEOMED College of Medicine Student
NEOMED Student Publications
October 2019 Update
Orthopedics
Pediatrics
Plates (structural members)
Proteins
Radiographs
Radiography
Skeleton
Thorax
Vertebra
Vertebrae
Weiner Dennis S