Skeletal Dysplasia

Skeletal Dysplasia

A skeletal dysplasia is an abnormality of development, shape and structure of the skeleton. It may become obvious before birth, at birth or during the development of the child or young adult. It may produce an abnormality of growth of part of a limb or trunk, or produce a severe deformity of the whole skeleton.

Classification

Which part of bone?

Epi-
Meta-
Diaphys-
Spine involved?
Spondylo-

Short Stature

Height that is less than the 3rd percentile for the chronological age of the patient.

Classification of Short stature

1-Proportionate

2-Disproportionate ( Dwarfism)

A: Short Trunk

B: Short Limbed:

a:Rhizomelic

b: Mesomelic

c: Acromelic

Investigations

-Clincal:

Standing and sitting height, Arm span and leg lengths, Face and hands

-Imaging
-Amniocentesis
-Enzymes
-Genetics