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Multiple Epiphyseal Dysplasia

Links to chapters on individual conditions in Wheeless' Textbook Deformities of the Limbs Achondroplasia Chondrodysplasia Punctata: Chondroectodermal Dysplasia: Cleidocranial Dysplasia Diastrophic Dwarfism: ...

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...

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...

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.

a/k/a: craniometaphyseal dysplasia
* autosomal recessive
* failure of modeling of cylindrical bones
* "Erlenmeyer flask" appearance of metaepiphyses

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

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

* 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]

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...

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...

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...

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...

* 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...

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...