OWL: OCOSH Classification/Bone Diseases/Bone Developmental Diseases/Osteochondrodysplasia

Case 4. Multiple Epiphyseal Dysplasia

Not Available — 2002-02-04 00:15:04 GMT

Multiple Epiphyseal Dysplasia

Dwarfism and Dysplasias Wheeless

Wheeless — 2006-11-30 00:15:04 GMT

Links to chapters on individual conditions in Wheeless' Textbook Deformities of the Limbs Achondroplasia Chondrodysplasia Punctata: Chondroectodermal Dysplasia: Cleidocranial Dysplasia Diastrophic Dwarfism: Hypophosphatemic Vitamin D-resistant rickets Kniest Dysplasia Marfan's Syndrome Metaphyseal Chondrodysplasia Metatrophic Dysplasia: Morquio's Syndrome: Mucopolysaccharidoses Multiple Cartilaginous Exostoses Multiple Enchodromatosis (Ollier's Disease) Multiple Epiphyseal Dysplasia Proximal Femoral Focal Deficiency Osteogenesis Imperfecta Spondyloepiphyseal Dysplasia Congenita: - Short Trunk Dwarfism: - Kniest syndrome - Metatrophic Dysplasia - Spondyloepiphyseal dysplasias - Proportionate Dwarism: - diastrophic dysplasia, - cleidocranial dysplasia dysplasia - mucopolysaccaridoses; - Disproportionate dwarfism: (short limb dysplasia) - Achondroplasia - metaphyseal chondrodysplasias; -------------------------------------------------------------------------------- - Misc: - Rhizomelic Dwarfism: Arms or Thighs are Short relative to the entire limb - Mesomelic Dwarfism: Disproportionately Short Forearms or Legs - Acromelic Dwarfism: Disproportionately short hands or feet

Dwarfism Short Stature

2006-11-18 00:15:04 GMT

Resources for - Skeletal Dysplasias, Achondroplasia, Jeune Syndrome [Asphyxiating Thoracic Dystrophy], multiple exostoses, hormonal short stature, Cartilage-hair hypoplasia, [CHH, Metaphyseal chondrodysplasia, McKusick-type], Chondroectodermal dysplasia, Ellis-van Creveld syndrome, Congenital adrenal hyperplasia, DeMorsier syndrome [Septo optic dysplasia], Diastrophic dysplasia, Ellis-van Creveld syndrome [EvC], Growth-hormone deficiency, Hypochondrogenesis, Hypochondroplasia, Hypopituitarism, Growth-hormone deficiency, Hypopituitary dwarfism, Kniest syndrome [Kniest dysplasia, metatropic dysplasia type II], McCune-Albright syndrome, Mesoectodermal dysplasia [Ellis-van Creveld syndrome], Metatropic dysplasia, Morquio syndrome [MPS-IV (mucopolysaccharidosis)], Multiple epiphyseal dysplasia, [MED], Optic-nerve hypoplasia, Osteogenesis Imperfecta, Panhypopituitarism, Growth-hormone deficiency, Pituitary dwarfism, Primordial dwarfism, Pseudoachondroplasia, Rhizomelic chondrodysplasia punctata [RCP], Russell-Silver syndrome [Silver-Russell syndrome, Silver syndrome, Russell syndrome], Septo optic dysplasia, Spondyloepimetaphyseal dysplasia, Strudwick [SEMD (or SMD)], Spondyloepiphyseal dysplasia congenita [SED, SEDc], Thanatophoric dwarfism, Turner syndrome, constitutional delay, other conditions

Dysplasia Epiphysealis Hemimelica eMedicine Orthopedics

Bakarman & Letts — 2008-04-06 00:15:04 GMT

Dysplasia epiphysealis hemimelica (DEH), or Trevor disease, is a rare developmental disorder affecting the epiphyses in young children. The first report of DEH in the literature was by Mouchet and Belt in 1926, who described the condition as a tarsal bone disorder and used the term tarsomegalie. In 1950, Trevor reviewed 10 cases of DEH and used the term tarsoepiphyseal aclasis. In 1956, Fairbank reported 14 cases and coined the term dysplasia epiphysealis hemimelica. DEH is thought to be a variant of osteochondroma arising within a joint.
Synonyms and related keywords: DEH, Trevor disease, Trevor's disease, tarsoepiphyseal aclasis, tarsomegalie, joint swelling, swollen joint, swollen knee, swollen ankle, talus, tarsal joint, navicular joint, cuneiform joint
Khalid Bakarman, MD & Robert Mervyn Letts, MD 2004

International Skeletal Dysplasia Registry

Not Available — 2009-06-11 00:15:04 GMT
Established in 1970, the International Skeletal Dysplasia Registry at Cedars-Sinai Medical Center is a referral center for diagnostic opinions. The Registry also collects information for research into the diagnosis, management and etiology of the skeletal dysplasias.

metaphyseal dysplasia (Pyle disease) CHORUS

Charles E. Kahn, Jr., MD — 2002-01-31 00:15:04 GMT
a/k/a: craniometaphyseal dysplasia
* autosomal recessive
* failure of modeling of cylindrical bones
* "Erlenmeyer flask" appearance of metaepiphyses

Multiple epiphyseal dysplasia in children

Bajuifer S, Letts M. — 2009-10-16 00:15:04 GMT
CONCLUSION: Although multiple epiphyseal dysplasia is a disease of childhood, it is seldom severe enough to require operative intervention in the initial 2 decades of life.
Multiple epiphyseal dysplasia in children: beware of overtreatment! Bajuifer S, Letts M. Can J Surg. 2005 Apr;48(2):106-9. Full text

Multiple Epiphyseal Dysplasia POSNA Study Guide

Not Available — 2009-06-11 00:15:04 GMT
Objectives
1. Describe clinical features suggestive of MED
2. Describe orthopaedic problems related to MED
3. Describe a method of obtaining immediate further information on the osteochondrodysplasias

pyknodysostosis CHORUS

Charles E. Kahn, Jr., MD — 2002-01-31 00:15:04 GMT
* autosomal recessive
* dense, sclerotic bones [Cf: osteopetrosis (sporadic, not inherited)]
Features:
* open cranial sutures + fontanelles
* Wormian bones
* dolichocephaly
* sclerotic vertebrae
* fractured long bones
* short, stubby hands
* partial agenesis/aplasia of terminal phalanges [simulates acro-osteolysis]

Radiology Cases Dyschondroplasia

IDM — 2009-07-24 00:15:04 GMT
Dyschondroplasia and dysplasia involving epiphyseal plate
The grouping comprises those congenital conditions that are associated with persistence or metaplasia of the original bone matrix to form rests of cartilage within or on the surface of a bone. The listing includes: Diaphyseal aclasis, Dysplasia epiphysialis hemimelica, enchondromatosis and its variants. I have included Metaphyseal Dyschondroplasia and Epiphyseal acrodysplasia, since these cases may involve cartilage rests from the growth process, that affect the appearance of the adult bone.

Shoulder Arthrodesis for Spondylo-epiphyseal Dysplasia

Not Available — 2009-11-01 00:15:04 GMT
Clinical presentation of a 70 year old woman with spondylo-epiphyseal dysplasia who has had severe limitation of her right shoulder motion since birth. Over the last few years she has progressively experienced severe pain which prevents her from using this arm and from sleeping. She also uses a wheel chair for ambulation because of dysplastic involvement of her spine, hips and knees. Her left shoulder remains relatively unaffected.

Skeletal Dysplasias

Not Available — 2002-01-31 00:15:04 GMT
Although many dysplasias are quite rare, some occur with sufficient frequency that most general practice radiologists will see them and should know something about them. This chapter gives an extremely simplified meatball approach to the diagnosis of these more common disorders. You won't find rare syndromes such as bird-headed dwarvism on the differentials listed herein.

Skeletal Dysplasias eMedicine Pediatrics

Chen — 2007-08-06 00:15:04 GMT
Synonyms and related keywords: skeletal dysplasia, disproportional short stature, short stature, dwarfism, osteochondrodysplasias, thanatophoric dysplasia, achondroplasia, osteogenesis imperfecta, achondrogenesis, chondrodysplasia punctata, homozygous achondroplasia, chondrodysplasia punctata, camptomelic dysplasia, congenital lethal hypophosphatasia, perinatal lethal type of osteogenesis imperfecta, short-rib polydactyly syndromes, hypochondroplasia, rhizomelic type of chondrodysplasia punctata, Jansen-type metaphyseal dysplasia, spondyloepiphyseal dysplasia congenita, atelosteogenesis, diastrophic dysplasia, congenital short femur, Langer-type mesomelic dysplasia, Nievergelt-type mesomelic dysplasia, Robinow syndrome, Reinhardt syndrome, acrodysostosis, peripheral dysostosis, Kniest dysplasia, fibrochondrogenesis, Roberts syndrome, acromesomelic dysplasia, micromelia, Morquio syndrome, Kniest syndrome, metatrophic dysplasia, spondyloepimetaphyseal dysplasia
Author: Harold Chen, MD, MS, FAAP, FACMG, Chief, Professor, Department of Pediatrics, Section of Perinatal Genetics, Louisiana State University Medical Center
Dwarfism is a commonly used term for disproportionately short stature, although a more medically appropriate term for this disorder is skeletal dysplasia. Short stature is defined as height that is 3 or more standard deviations below the mean height for age. If short stature is proportional, the condition may be due to endocrine or metabolic disorders or chromosomal or nonskeletal dysplasia genetic defects. In general, patients with disproportionately short stature have skeletal dysplasia (osteochondrodysplasia). Skeletal dysplasias are a heterogeneous group of more than 200 disorders characterized by abnormalities of cartilage and bone growth resulting in abnormal shape and size of the skeleton and disproportion of the long bones, spine, and head.

spondyloepiphyseal dysplasia CHORUS

Brian Funaki, MD — 2002-01-31 00:15:04 GMT
* autosomal dominant
* retinal detachment -> blindness
findings:
1. delay in ossification
2. vertebral bodies: decreased height, anterior hypoplasia at T-L jx
3. incompletely ossified odontoid process
4. supernumerary epihyseal ossification centers of metacarpals (esp. 1st, 2nd) -> excessive elongation (also in cleidocranial dysostosis)
5. pelvis: horizontal acetabular roofs, slow ossification of acetabulum and femoral head -> fossae appear empty, varus deformity of femoral neck

Spondyloepiphyseal Dysplasia eMedicine Orthopedics

Parikh et al — 2007-08-06 00:15:04 GMT
Spondyloepiphyseal Dysplasia
Last Updated: September 12, 2003
Synonyms and related keywords: spondyloepiphyseal dysplasia congenita, SED congenita, SEDC, Spranger-Wiedemann, spondyloepiphyseal dysplasia tarda, SED tarda, SED tardive, X-linked SED, spondyloepiphyseal dysplasia late, SEDL, SED Maroteaux type, SED tarda Toledo, SED with brachydactyly, SED tarda Namaqualand type, NSED, pseudo-Morquio disease, pseudoachondroplasia SED, short stature, dwarfism, skeletal dysplasia, myopia, near-sighted, retinal detachment, detached retina, deafness, deaf, scoliosis, kyphosis, lordosis
Contents: Information Introduction Clinical Differentials Workup Treatment Follow-up Miscellaneous Pictures Bibliography Authors Parikh, Crawford & Batra