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Chapter: Medicine Study Notes : Paediatrics

Congenital Abnormalities - Paediatric Orthopaedics

Cleft Lip and Palate : Failure of fusion of maxillary and premaxillary processes during week 5. With cleft lip, the lesion runs from the lip to the nostril, can be bilateral.

Paediatric Orthopaedics


Congenital Abnormalities


Cleft Lip and Palate


·        Failure of fusion of maxillary and premaxillary processes during week 5. With cleft lip, the lesion runs from the lip to the nostril, can be bilateral

·        Incidence: 0.8 – 1.7 per 1000

·        Cause: genes, drugs (benzodiazepine, antiepileptics), rubella

·        Treatment:

o   Feeding with special teats

o   Surgery: repair lip at 3 months old, palate at 1 year old 

·        Prognosis: Unilateral or incomplete ® good results.  Bilateral lesions ® some residual deformity

·        Complications: otitis media, aspiration pneumonia, speech problems (refer to SLT)


Developmental Dysplasia of the Hip


·        Encompasses Congenital Dislocation of the Hip

·        Occurs after birth.  Coves a spectrum from instability through subluxation to dislocation

·        Commoner on the left.  25% bilateral

·        Incidence: 1 in 1000 

·        Risk factors: extended breech, females, positive family history, first child, post-maturity, oligohydramnios 

·        Clinical: From 12 months shortening of the limb, external rotation and asymmetrical skin creases. Delayed walking, Trendelenburg gait and OA in early 30s

·        Diagnosis: 

o  Ortolani‟s Test: Flex hips to 90º then abduct them ® click as femoral head slips back into the acetabulum 

o  Barlow‟s test: Test for instability. Fix the pelvis with one hand and try and press the head and neck of the femur backwards out of the acetabulum

·        Investigations.  Neonatal ultrasound.  > 4 months then xray

·        Treatment: achieve and maintain a stable reduction.  Neonate Pavlik harness.  Later: open reduction

·        Prognosis: 

o  The earlier the treatment the better the outcome. Otherwise degenerative changes in the femoral head (eg anteversion), acetabulum, capsule, altered alignment

o  Poor prognosis: boy, late detection, Ortolani‟s negative (ie doesn‟t reduce easily)

·        Clicking: a common finding and rarely associated with CCH


Club Foot


·        Congenital Talipes Equinovarus


o  Small foot at birth, plantar flexed (equinus), heal in varus, forefoot displaced towards midline, fore foot inverted and lateral border convex, ankle is fixed, calf is wasted


o  Incidence: 1 in 1000. Twice as common in boys. 50% bilateral. Associated with other abnormalities (eg myelomeningocele)

o  Aetiology: multifactorial inheritance


o  Treatment: early diagnosis, stretching and strapping then serial casting from 10 days. Surgery at 12 weeks if not right yet to release tight tissues (eg tendons) on inner side of foot. Raised outside of shoe when walking. Follow-up: prone to relapse


·        Calcaneo-Valgus Foot: Dorsiflexed and heal in valgus


Tarsal Conditions


·        = Peroneal Spastic Flat Foot (old term)

·        An abnormal union between one or other of the bones of the hind foot

·        Autosomal dominant failure of segmentation or maturation of the mesenchyme

·        Incidence 1% 

·        Diagnosis: flat foot as child with increasing stiffness of the hind foot. Progressive onset of pain in adolescence

·        Diagnosis: lateral and oblique x-rays.  MRI

·        Treatment: 6 weeks casting, rigid orthosis, resection of the bar if found early, otherwise fusion


Internal Tibial Torsion


·        Internal bowing of the tibia caused by inter-uterine positioning

·        Exclude other problems of hip, knee and foot

·        Usually self corrects by age 5


Femoral Anteversion


·        ­ Angle between femoral shaft and neck – normal is 15 degrees

·        Exam: intoed gait and excess internal rotation of the hip.  Egg-beater running style 

·        Treatment: Trend to correct up to 5 years of age. Avoid sitting with legs in internal rotation. Osteotomy if deformity is severe and does not correct




·        Lateral spine curvature

·        Types: 

o  Non-structural or postural curves, eg due to limb length inequality (curve disappears on bending forward)

o   Structural curves: has lateral deviation and rotation of the vertebra. When child bends forward there is a hump to one side and curve is still present/exaggerated eg congential, neuromuscular, miscellaneous 

·        Idiopathic types often present during adolescent growth phase

·        Causes pain, deformity and impaired lung function

·        Usually progressive.  Follow carefully or active management (casts or surgery)


Other Congenital Skeletal abnormalities


·        Neurofibromatosis:

o   Commonest single gene disorders – autosomal dominant

o   NF1, 1:3,500

o   NF2, 1:50,000

o   Neurofibromatoma, Café au lait, scoliosis, skeletal overgrowth, tibial bowing, thinning, fracture

o   See Topic: Neurofibromatosis 

·        Osteochondritis juvenilis (osteochondrosis): bony centres in children/adolescents become temporarily softened ® deformity due to pressure ® harden again in 2 – 3 years in deformed shape

·        Skeletal dysplasia: achondroplasia, osteogenesis imperfecta, plus numerous others

·        Soft tissue disorders: Marfan‟s, plus numerous others

·        Chromosomal disorders: Trisomy 21, 13, 18

·        Metabolic: Numerous, including Wilson‟s, haemophilia

·        Neuromuscular: Charcot Mari Tooth, Duchenne, Cerebral palsy

·        Spinal dysraphism


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