Dysplasia is a term that is used to denote abnormality in maturation of cells within a tissue. That means that the tissue developed would have abnormalities.
The skeletal development can be hampered by many causes and is classified according to the embryological segment affected.
Rhizomelic Dysplasia
The proximal segment of the limbs is affected. It can be due to
Hypochondroplasia
It resembles resembles a mild form of achondroplasia.
Chondrodysplasia punctata
Chondrodysplasia punctata has both autosomal dominant and autosomal recessive types. Recessive type is rare.
In autosomal dominant type (Conradi-Hunerman), in the newborn stippling is evident in the long bone epiphyses, spine and larynx. There could be malsegmentation of vertebral bodies. Stippling disappears by 2 years of age and there is asymmetrical shortening of limbs.
These patients usually survive into adulthood.
Autosomal recessive type is marked symmetrical rhizomelia with humeri more severely affected than femora. Spinal stippling is mild. Stillborn or perinatal death.
Pseudoachondroplasia -T his is marked by short limb and short spine, marked joint laxity, platyspondyly with exaggerated grooves for the ring apophyses and C1-C2 dislocation.
Mesomelic Dysplasia
This involves shortening in the middle segment.
Dyschondrosteosis
Also known as Leri-Weil disease this is manifested as limb shortening with a Madelung deformity.
Langeresomelic type dysplasia
Reinhardt-Pfeiffer type
Acromesomelic
This involves middle and distal segment limb shortening
Chondroectodermal dysplasia
It is also known as Ellis-van Creveld syndrome and is similar to asphyxiating thoracic dysplasia (see below) but with these differences
- Hexadactyly is a constant finding
- There is severe hypoplasia of the fingers and nails
- Congenital heart disease is common and
- Hypoplastic lateral tibial plateau is characteristic
Acromesomelic dysplasia
- Nievergelt type
- Robinow type
- Werner type
Acromelic
This involves distal segment shortening
Asphyxiating thoracic dysplasia or Jeune’s syndrome
This is hallmarked by narrow thorax with short ribs leading to respiratory distress. Spur-like projections of the acetabular roof can be found. Premature ossification of the femoral capital epiphyses may occur. Occasional post-axial hexadactyly and cone-shaped piphyses may occur in childhood.
Peripheral dysostosis.
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