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Paediatric Orthopaedics Review A Must Read

Paediatric Orthopaedics Review A Must Read

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Published by Surgicalgown
Paediatric Orthopaedics
Paediatric Orthopaedics

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Published by: Surgicalgown on Jun 13, 2009
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08/02/2013

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Around Day 12 after conception, the
PRIMITIVE STREAK 
appears and the newly begun ectodermal cells form the
MESODERM 
by blending endoderm and ectoderm.The creation of connective tissue, blood vessels, blood cells, muscles and the G.U. system is then begun asMESENCHYME, (which comes from
MESODERM 
) emerges and becomes active.Within 21 days
ECTODERM 
forms the
NOTOCHORD 
- at the cranial end of the
PRIMITIVE STREAK 
.At this time the
NEURAL CREST 
cells differentiate to begin the formation of the peripheral narrow system, theautomatic nervous system and Schwann cells.At this time too,
SOMITES 
are formed from
MESODERM 
and they begin to line both sides of the
NOTOCHORD 
.Eventually they will form 42-44 pairs.The
SOMITES 
continue their developmental process and soon become a lateral dermatome, a medial myotome anda ventral scleratome. This becomes in due time, the basis of the skin, muscle and skeletal elements, respectively.By week 6 after conception, the median artery [which initially supplies the hand] evolves.At this time the limb buds also develop. The upper extremity, with pronated forearms, appears first - and begins torotate externally. Within days the lower extremity appears and begins to rotate internally.By week 7 the ten finger rays appear and continue to differentiate till week 12 - 13 when the hands appear.During this initial 12 week period the formation of the body’s solid framework also begins. The beginning processinvolves
MESENCHYMAL AGGREGATION 
into a cartilage prototype. Gradually but systematically each cartilagemodel becomes solid bone. This process applies to all bones except those formed through intra-membranousossification such as the skull.By week 12 the
PRIMARY CENTRES 
of
OSSIFICATION 
in the
DIAPHYSES 
of most bones has appeared. Most
SECONDARY CENTRES 
for
OSSIFICATION 
are not present however, until after birth.The term ‘Dysplasia’ refers to the range of deformities caused by intrinsic bone disturbance.Dwarfism can be PROPORTIONATE - manifesting a symmetric decrease in both truncal and limb length.Dwarfism can be DISPROPORTIONATE - manifesting either a short limb disorder or a short trunk disorder. Short -limbed dwarfism can affect either the proximal, the middle or the distal region of a limb.FORMS OF DYSPLASIA include: Achondroplasia Spondyloepiphyseal Dysplasia Chondrodysplasia Punctalta KneistSyndrome - AD Metaphyseal chondrodysplasia Multiple Epiphyseal Dysplasia Dysplasia Epiphysiallis Haemimeliea[known as Trevors Disease] Progressive Diaphyseal Dysplasia - AD Mucopolysaccharidosis Diastrophic Dysplasia -AR Cleidocranial Dysplasia - AD Benign Bone Growth Dysplasia
A) Achondroplasia Achondroplasia
 is the most common form of disproportionate dwarfism. It is an autosomal dominant (AD) condition with an 80%spontaneous mutation. It is caused by abnormal endochondral bone formation [in the proliferative zone] and can beassociated with late-in-life childbirth. It is a quantitative [not a qualitative] cartilage defect. The afflicted child will havedwarfed limbs and a normal trunk.Most will also exhibit a prominent forehead, a small nasal bridge, thoraco-lumbar kyphosis, excessive lordosis, tridenthands, radial head subluxation plus hypotonia, during the first year of life.
 
Most Achondroplasia patients will have normal intelligence. They will present a normal sitting height but a standingheight in the lower 3%. The motor development of each including walking will be noticeably delayed. Clinicalsymptoms include: posterio vertebral scalloping, delayed appearance of growth plates, short, though wide, iliac wingsnarrowed interpedicular distance and wedging {L1 -3, T12/L1}, possible radial or tibial bowing coxa valga, genu varumand metaphyseal flaring with an inverted v shaped distal femoral physes a severely impaired growth pattern of theforearm magnum [which could cause apnea.] Surgical Options include: decompression of the spine plus bone graftingfor any developing neurologic deficit.Arterial fusion with strut grafting also posteria fusion whenever there isprogressive kyphosis, unaccompanied by neurologic problems.
B) Spondyloepiphyseal Dysplasia
 This disproportionate affliction has three major forms: Congenita Form Tarda Form Pseudoachondroplastic Dysplasia[This is considered in some books to be separate]. The Congenita Form is short trunked dwarfism involving thevertebra and epiphyseal centres, AD inheritance plus clinical heterogeneity. It is not distinguishable at birth.Symptoms can include platyspondyly, scoliosis,flattened facies, odontoid hypoplasia, coxa vara and / or genu valgum.Retinal detachment and myopia are also common. The Tarda Form affects the spine and the larger joints primarilyand does not manifest itself till a child is 8-10. The hip often becomes dislocated and premature osteoarthritis, andalso scoliosis, may develop. [ Osteotomies may be useful in easing the osteoarthritis]. The PseudoachondroplasticDysplasia has an AD inheritance pattern and is similar to Achrondoplasia without the flattened facies. Signs andsymptoms include cervical instability; scoliosis leading to lumbar lordosis, plus significant bowing of the hip, knee andelbow flexion contractures.
C) Chondrodysplasia Punctata
 This disorder has both an autosomal recessive [AR] form and an autosomal dominant [AD] form. The AD form hasvariations in the severity of its symptoms but the AR rhizomelic form is almost always fatal soon after birth. Themultiple punctate calcifications which cause the disorder can be clearly detected on a Radiograph.Signs andsymptoms include asymmetric limb shortening, spinal deformity and also cataracts.
D) Kneist Syndrome - AD
 This disorder produces short limbed, short trunked dwarfism. The many symptoms include joint stiffness, distortedfemora, scoliosis, kyphosis plus hypoplaslic pelvis and spine. Kneist Syndrome sufferers are also prone to respiratoryproblems, otitis media, cleft palate, myopia plus retina detachment. Radiographs are necessary to pick up earlyosteoporosis and also platyspondyly which is common in all sufferers.Symptomatic treatment includes constanttherapy for joint contractures and ophthalmic consultation. Reconstructive procedures may also be necessary if earlyhip degenerative arthritis becomes severe.
E) Metaphyseal Chondrodysplasia
 Sufferers exhibit symptoms of a group of heterogenous disorders, all characterised by the metaphyseal changes oftubular bones with normal epiphysis. McKuside This is an AR, cartilage / hair dysplasia, seen most commonly amongAmish and Finnish peoples. Signs and symptoms include atlantoaxial instability and ankle deformity - due to distalfibular overgrowth - plus an abnormal immunologic competence. Jansen - AD. This is very rare. Patients havehypercalcemia. They are quite retarded with dwarfed limbs. Their eyes are set widely apart. They have a monkey likestance. Schmid - AD. Patients have coxa vara and genu varum which causes their stunted growth and bowed legs.
 
The disorder is hard to diagnose early as the symptoms do not become pronounced until late in childhood. Sufferersare advised to avoid obesity.
F) Multiple Epiphyseal Dysplasia
 This is a disproportionate form of dwarfism which does not manifest symptoms until a child is school aged, sometimesin his/her teens.It is characterised by delayed and/or irregular ossification at multiple epiphyseal. There are two forms:Ribbing - which is mild Fairbank - which is much more severe. Clinical Problems Include very short, stuntedmetacarpals/metatarsals, abnormal ossification, T12/L1 notching and deformed ring apophysis, irregular femora,valgus knees [osteotomies may help],waddling gait, early arthritis of the hip.
G) Dysplasia Epiphysealis Hemimelica [Commonly known as Trevors Disease]
This disorder affects only one limb and only one half of this limb.Sufferers develop an osteochondroma.[This is abenign tumour made up of a stalk of bone capped with cartilage.] It manifests itself in late childhood and develops intoan irregular shaped enlargement of half of the epiphyses - usually the medial half. It most commonly affects the knee joint. Large osteochondromas can interfere with skeletal growth causing deformity. In some instances they arerelatively problem free. Partial excision of the overgrowth, if large is required.
H) Progressive Diaphyseal Dysplasia
AD Sufferers develop symmetric, cortical thickening of one or more of the larger bones such as the tibia, femur orhumerus. Only the diaphyseal portion of the bone is affected. The attached muscle is subsequently weakened sowalking is delayed in infants whose leg bones are affected. Progressive symptoms include scoliosis, possible limblength inequality plus increasing difficult of movement.
I) Mucopolysaccharidosis
 This form of dwarfism - which is proportionate - is caused when a hydrolase enzyme deficiency creates anaccumulation of mucopolysaccharides [MPSs]. It is easily diagnosed due to the amount of complex sugars whichappear in the urine. There are four main types. Hurler Syndrome Hunter Syndrome Sanfilippo Syndrome MorquioSyndrome. [This is the most common. It manifests itself when the patient is about 18 months old.] Signs andSymptoms include: knock knees, a waddling gait, thoracic kyphosis, coxa vara with non ossified femoral heads,anterior beaking of vertebrae, thickened skull bullet shaped metacarpals, C1/C2 instability [due to odontoidhypoplasia] which requires decompression and also cervical fusion.
J) Diastrophic Dysplasia - AR
This is a very severe, short limbed form of dwarfism.It is associated with a disorder of type II. Collagenin the physis.The patients body takes on a twisted appearance. Other signs and symptoms include painful joint contractures, rigidclub feet, mid thoracic kypho-scoliosis, cervical kyphosis [which requires neurologic sequela treatment] a cleft palate,spina bifida occulta, thoracholumbar kypho-scoliosis, cauliflower cars and atlantoaxial instability due to odontoidhypoplasia.
K) Cleidocranial Dysplasia - AD
 This is a proportionate form of dwarfism which affects only those bones which are formed intramembranously.Patients suffer delayed skull suture closure, frontal bossing , coxa vara [an intertrochanteric osteotomy could beconsidered if varus is <100 degrees] wormain bone formations and delayed ossification of the pubis.

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