SKELETAL DYSPLASIAS:
- Growth and development disorders of bone and the cartilage.
- More than 450 entities have been described,
according to radiological,
biochemical and molecular findings.
- Alterations of the axial and/or appendicular skeleton.
- 1 in every 5000 live births.
- The majority presents growth delay before 3 years of age.
It is necessary to know the appropriate terminology to start the imaging assessment in patients with suspected skeletal dysplasias,
so the following concepts will be defined:
Osteochondrodysplasias:
⦁ Growth abnormalities of bone or cartilage texture.
⦁ Genetic mutations.
⦁ Alterations evolve throughout life.
⦁ Generalized skeletal involvement.
Example: Thanatophoric dysplasia.
Fig. 2
References: Universidad Nacional de Colombia
Dysostosis:
⦁ Single or multiple bone malformations.
⦁ Occurs during intrauterine blastogenesis.
⦁ Static evolution in life.
⦁ Involvement of axial or appendicular skeleton.
Example: Tetraphocomelia
Fig. 3
References: Universidad Nacional de Colombia
Fig. 4
References: Modified from Alanay Y, Lachman RS. J Clin Res Pediatr Endocrinol. 2011;3(4):163-78
According to the bibliography reviewed,
we consider this is the initial approach of a patient with suspected skeletal dysplasia.
Fig. 5
Fig. 6
RADIOLOGICAL ALGORITHM
Fig. 7
Axial Skeleton |
Appendicular Skeleton |
- Skull
- Jaw
- Spine
- Pelvis
- Clavicle
- Ribs
|
- Superior limbs
- Lower Extremities
|
Fig. 8
References: Universidad Nacional de Colombia
AXIAL SKELETON
Fig. 9
References: Universidad Nacional de Colombia
Spine:
- Platyspondyly: Thanatophoric dysplasia.
- Central peak: Mucopolysaccharidosis.
- Vértebra with hump shape: Spondyloepiphyseal dysplasia tarda.
Fig. 10
References: Modified from Alanay Y, Lachman RS. J Clin Res Pediatr Endocrinol. 2011;3(4):163-78.
Hip:
- Champagne glass shape of the pelvis: Achondroplasia.
- Wide and small iliac wings: Thanatophoric dysplasia
APPENDICULAR SKELETON
Fig. 11
References: Universidad Nacional de Colombia
Fig. 12
References: Universidad Nacional de Colombia
Fig. 13
References: Universidad Nacional de Colombia
Fig. 14
References: Universidad Nacional de Colombia
Fig. 15
Fig. 16
Fig. 18
References: Universidad Nacional de Colombia
Fig. 17
References: Universidad Nacional de Colombia