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Types of Dwarfism

November 4, 2009 by Leave a Comment

Term dwarfism is used to describe a person of short stature.
It can be

  • Disproportionate dwarfism : One or more body parts arerelatively large or small in comparison to those of a normal adult.
  • Proportionate dwarfism: The body appears normally proportioned, but is clearly abnormally small.

Dwarfism is not necessarily a disorder. It can be a naturally occurring consequence of a person’s genetics.

Dwarfism can be classified by the location of the shortness or the structure causing it. [Read more...]

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Leri Weill Dyschondrosteosis

November 2, 2009 by 8 Comments

Leri Weill Dyschondrosteosis is a type of dysplasia associated with Madelung deformity. It is a form of mesomelic dwarfism and was first described by Leri and Weill in 1929. Leri Weill dyschondrosteosis is characterized by

  • Variable short stature
  • Short forearms,
  • Tibial/fibular shortening.

[Read more...]

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Pseudoachondroplastic Spondyloepiphysial Dysplasis or Mucopolysaccharidosis VI

February 28, 2008 by Leave a Comment

This condition was reported by Maroteaux & Lamy in 1959. It is one of the most common dwarfisms encountered by the orthopaedic surgeon, possibly because of its liability to multiple deformities.

Inheritance is generally autosomal dominant. [Read more...]

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Dysplasia Spondyloepophysialis Congenita

February 28, 2008 by Leave a Comment

The characteristics of this condition are of a short-trunk type of dwarfism with involvement of the spine and limb epiphyses, particularly the proximal ones.

The radiological changes can be identified at birth, though the child may not always be diagnosed clinically at birth.

Clinical Features

Dwarfism is present both in the trunk and limbs. Facial abnormalities such as hypertelorism and high-arched palate may be seen and the neck is short. There may be metatarsus adductus.There is muscle weakness and delay in walking and, when child begins to walk, he waddles with an exaggerated lumbar lordosis. [Read more...]

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Hunter Syndrome-Type A

February 21, 2008 by Leave a Comment

In this type of mucopolysaccharidosis, the condition is sex-linked, and, therefore, it is always a male who inherits the disease from his mother, either through a mutation in her X-chromosome or through an abnormal X-chromosome inherited by her from an earlier generation.

The skeletal features of dwarfism and joint deformities are similar to those of mucopolysaccharidosis I-H (Hurler’s Syndrome) but less marked. Spine deformity is less marked and acute kyphosis does not usually develop. [Read more...]

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Mucopolysaccharidoses and Mucolipidoses

February 17, 2008 by Leave a Comment

The conditions to be described in this group of lesions are generalized skeletal abnormalities characterized by dwarfism affecting the spine and limbs, visceral abnormalities and evidence of a lysosomal storage disorders involving mucopolysaccharide or mucolipid.

In some the skeletal changes predominate, in others the visceral changes. Hunter first described a developmental abnormality in two brothers and Hurler recognized a hereditary component and that it was a primary disturbance of skeletal growth. [Read more...]

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Dysplasia Epiphysialis Multiplex

January 9, 2008 by Leave a Comment

Dysplasia epiphysialis multiplex is an uncommon, but not rare developmental abnormality characterized by irregularity in the density and configuration of epiphyses with minimal involvement of the spine.

The condition is not recognizable at birth and often does not present until the ages of 6 or 7 years with bilateral symmetrical abnormalities. The number of epiphyses affected varies from a few to all the major epiphyses.

The regions most prone to involvement being the hips, shoulders and ankles. [Read more...]

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Dysplasia Epiphysialis Punctata (Conradi Disease)

January 7, 2008 by 1 Comment

This rare condition,also known under a variety of names such as chondrodystrophia foetalis calcificans, stippled epiphyses, or congenital multiple epiphysial dysplasia.

It is characterized by the presence of stippled epiphyses at birth in association with other connective tissue disturbances. [Read more...]

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