Bone Dysplasias: Definition: Generalized abnormality in growth or development.

Genetic aspects: variety of disorders (from single gene disorder to multifactorial

inheritance)
Classification of bone dysplasias:
1. Disorders around growth plate (epiphyseal or metaphyseal)
2. Changes in bone density (increased or decreased)
3. Cranio-tubular disorders
4. Cranio-facial abnormalities
5. Vertebral anomalies
6. Storage disorders
7. Anomalies of cartilage and fibrous tissue
8. Miscellaneous disorders
Disorders around growth plate (epiphyseal or metaphyseal):
Multiple epiphyseal dysplasia:
Flattening of epiphyses knee or hip abnormality
(genu varum, hip dysplasia similar epiphyseal changes of femoral epiphysis like
in Perthes disease)
Spondylo-epiphyseal dysplasia:
Dorsolumbar kyphosis due to wedge shaped vertebrae, disorder of ossification at
the hip (proximal femur)
ACHONDROPLASIA metaphyseal abnormality
Features: - DWARFISM
Disproportionately short limbs
Prominent forehead
Vertebral involvement- severe lordosis, spinal stenosis
typical disproportionate trunk- extremity relations in achondroplasia
Achondroplasia - x-ray features: short tubular bones, widened epiphyses
Changes in bone density
increased : OSTEOPETROSIS - thickening of diaphysis and metaphysis
Decreased: OSTEOGENESIS IMPERFECTA fragilitas ossium
most severe form: congenital infants may die early from intracranial
haemorrhage
tarda form becomes manifest later , frequent fractures of long tubular
bones BLUE SCLERA
THIS TYPE MAY HEAL AT EARLY ADULTHOOD
OSTEOGENESIS IMPERFECTA
Fracture fixation is a problem multiple fractures may occur repeatedly
telescoping nails should be used to fix the fractures as the child grows, nail
expands
Correction of femur curve in osteogenesis imperfecta
resection, rotation of curved segment and fixation

Spondyloepiphyseal dysplasia Morquio disease

Typical feature: growth of cartilage and ossification of cartilage are defective
Affected bones, joints: vertebrae, hips- knees
Manifestation: can be recognised at birth
Morquios syndrome typical appearance - gibbosity

Storage disorders:
Mucopolysacharidosis accumulation of mucopolysacharides in the cells and
subsequently in virtually all tissues of the body, with typical changes in the
skeleton
Example: GAUCHERS DISEASE large deposits of lypopolysacharids in the
skeleton, causing necrosis of femoral head
Anomalies of cartilage and fibrous tissue:
Enchondromatosis (Olliers disease): - aggregation of cartilage in the
metaphyses of long bones, producing deformities (forearm), growth disorder
(genu valgum or varum)
Exostosis cartilaginea multiplex exostoses at metaphyseal end of long
bones with a cartilage cap
Enchondromatosis:
Large chondral isles in proximal and distal epiphysis of tibia

Hyperchondroplasia Marphans syndrome (arachnodactyli)

Antoine Marphan French pediatrician 1896
Genetically inherited disorder of connective tissue
Feature: tall , lung upper limbs, reching near The knees, long thin fingers
(arachnodactyli- spiders fingers)

Risk: heart valve disorder!!

Multiple exostosis distal femur, proximal tibia

Ehler- Danlos syndrome

Hypermobility of joints
Vulnerable, white, extensile skin
rubber man
Cause: abnormal collagen fibers
Consequence: genu recurvatum, hip dislocation
Hyperlaxity of joints: thumb abducted into paralel position with forearm,
fingers hyperextended paralel with forearm
Importance: hyperlax joints are more vulnerable

Neurofibromatosis: (von Recklinghausens disease)

Typical feature: subcutanous nodules (neurofibroma), same nodules in spine
(causing severe form of scoliosis) cranium (compression of acoustic nerve)
Typical caf au lait skin patches
Cysts may lead to fractures
Fibrous dysplasia
Portions of endosteal bone are replaced by fibrous matrix
Two main types: monostotic (in one bone) and polyostotic
Consequence: pathological fracture, or deformity (curving) of bones
Vertebral anomalies:
Klippel- Feil syndrome

X-ray: fusion of several or all cervical vertebrae

Feature: short neck, posterior hairline is low
Sprengels deformity congenital elevationof scapula may be associated too
Klippel-Feil syndrome- clinical view, - risk: spinal cord compression