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DEVELPMENTAL

DISORDERS OF BONE

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Aegsters classification

Cartilage Chondroid formation disturbed

Bony Osteoid formation disturbed

Miscellaneous

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Aegsters classification

Cartilaginous

Chondroblastic proliferation

Chondroblast maturationEpiphyseal center

Mucopolysaccharide metabolism

Bony

Miscellaneous

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Developmental disorders

Cartilaginous

Chondroblastic proliferation

Multiple exostosis

EnchondromatosisChondroblast maturation

Achondroplasia

Epiphyseal center

Multiple epiphyseal dysplasiaMucopolysaccharide metabolism

Hurlers disease

Morquios disease

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Developmental disorders

Bony

Osteogenesis Imperfecta

OsteopetrosisNeurofibromatosis

Pseudoarthrosis

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Developmental disorders

Miscellaneous

Nail patella syndromeMarfans syndrome

Homocystinuria

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Developmental disorders

Cartilaginous

Chondroblastic proliferation

Multiple exostosis

EnchondromatosisChondroblast maturation

Achondroplasia

Epiphyseal center

Multiple epiphyseal dysplasiaMucopolysaccharide metabolism

Hurlers disease

Morquios disease

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Multiple Exostosis

Autosomal dominant.

Failure of bone remodeling

Bone out growths in metaphyseal region Affected limb becomes shortened

Surgical excision for pressure effect in

adjacent structures & cosmetic reason

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Multiple Exostosis in metaphyseal

region, as the bone grows appears tomigrate to diaphysis

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Multiple Exostosis in

metaphyseal region

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Enchondromatosis [Dyschondroplasia]

Non familial

Failure of ossification of cartilage at growth plate

Islands of unossified cartilage extends into

medullary cavity Multiple enchondroma or OLLIERS DISEASE orENCHONDROMATOSIS associated with softtissue haemangioma then the disorder is knownas MAFFUCCI SYNDROME

Solitary chondromas rarely undergosarcomatous change, but enchondromatosisundergo malignancy more frequently.

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Enchondromatosis [Dyschondroplasia]

Remnants of cartilage

from physis proliferate

Pain - pathological #

Dark lucent oval area,

surrounded by thin

rim of sclerotic bone.

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Achondroplasia

Endochondral ossification defect, with

membranous bone formation normal

Most common type of dwarfism Short limbed, with head & trunk normal

Intelligence and sexual development are

normal Treatment limb lengthening by Ilizarovs

technique

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Mucopolysaccharide disorders

Bone has 70% organic & 30% inorganic

components

In organic component, 5 10% is formedby mucopolysaccharide & 90 95% by

TYPE 1 COLLAGEN

Mucopolysaccharides are protein

polysaccharide & mainly chondroitin IV

sulfate. It prevents mineralization of bone

by complexing with calcium ions

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Mucopolysaccharide disorders

Polysaccharides loss from bone, ligament& cartilage leads to deformities, dwarfism,

flat vertebra,

Morquio-Brailsford disease Keratinsulfate excreted in urine. Manubriosternal

angle more than 96 degree

Hurlers dermatin sulphate & heparin

sulphate excreted in urine

Hunters Xlinked inheritance affecting

males

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Developmental disorders

Bony

Osteogenesis Imperfecta

OsteopetrosisNeurofibromatosis

Pseudoarthrosis

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Osteogenesis Imperfecta

Hereditary condition

Collagen maturation failure - defect incross linkage. Osteoblast failure

Endochondral & intramembranous boneformation affected delayed maturation ofsecondary centers of ossification

Skull thin & globular Multiple #s at birth trivial trauma

producing #s as cortex is thin

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Osteogenesis Imperfecta

Collagen layer in sclera is thin, hence

intraoccular pigments give a bluish tint

Skin is thin Capillary fragility leads to subcutaneous

haemorrghage

Dentinogenesis imperfecta - defect indentin brittle teeth & caries prone

Otosclerosis - deafness

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Osteogenesis Imperfecta

Management

No specific treatment for basic pathology

Biphosphonate inhibits osteoclasticresorption of bone, hence it improves bone

mineral density

Multiple osteotomies, realignment, & intramedullary rod fixation double IM nails

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Osteopetrosis Marble bone disease

Bones appear dense [sclerotic] in xray but

brittle. Failure of osteoclasts & remodeling

Pathological # are common and healsslowly

Anemia, optic atrophy, facial palsy,

deafness, are other features

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Neurofibromatosis[Von Recklinghausens Disease]

Autosomal dominant

Neurofibromas in ectodermal & mesodermal

tissues. Pigmented caf-au-lait spots in skin

Subcutaneous tender palpable nodules

Endosteal bone cysts, pseudoarthrosis

Dumb bell shaped intraspinal tumor

Treatment: excision, kyphoscoliosis correction.Protecting pathological # in anterolateral bowed

tibia till skeletal maturity

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Nail patella syndrome

Autosomal dominant

Nails are hypoplastic

Patella is small or absent Head of radius subluxation

Congenital nephropathy

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Marfans syndrome

Autosomal dominant. Defect in elastin

collagen

Patient is tall with occular lens dislocation,aortic aneurysm, chest deformities, joint

laxity, long digits, scoliosis, high arched

pallet & hernia

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Homocystinuria

Autosomal recessive

Occular lens dislocation, osteoporosis,

mental defects, widening of epiphysis &metaphysis