Skeletal Dysplasia

Metaphyseal (Chondro) Dysplasia in SDS is characterised by short stature, delayed appearance but subsequent normal development of secondary ossification centres. And by variable metaphyseal widening and irregularity that is most often seen in the ribs in early childhood and in the proximal and distal femora later in childhood and adolescence. Rarely, skeletal involvement may be extremely severe with generalized bone abnormalities.

Radiographic features of SDS:

X thorax : marked cupping and widening of the anterior ends

X pelvis : short iliac notches, valgus position of femoral neck,

X long bones:  widening of metaphysis

Last modified
30 May 2019

Short stature may have many different causes such as Endocrine disorders, Metabolic disease and Bone diseases:  skeletal dysplasias (a heterogeneous group of disorders characterized by abnormalities...

Rare Condition

Shwachman Diamond Syndrome

Shwachman-Diamond syndrome is complex condition which affects different body functions.

The pancreas  produces less enzymes for the uptake of food. 

The bone marrow malfunctions and...