Paediatrics Flashcards
Secondary causes of CTEV
Arthrogryposis Spina Bifida Spinal muscular atrophy (SMA) Amniotic band syndrome Sacral agenesis
Conditions associated with Arthrogryposis
Myelomeningoceole Larsen's syndrome Escobar syndrome Freeman Sheldon syndrome Beals contractural arachnodactyly
Genetics and manifestations of Larsen’s syndrome
1/100,000 AD - gene for Filamin B AR - carbohydrate sulfotransferase 3 deficiency Chromosome 3p 21.1 - Collagen 7 Normal IQ. Flat face, big forehead Non-tapering fingers Bilateral radial head dislocations CTEV
Associated with Congenital knee dislocations
Marfan’s genetics
Chromosome 15
Fibrillin 1 FBN-1
1/10,000 AD
Clinical manifestations of Marfan’s
Dolichostenomelia - arm span > height 1.05 Arachnodactyly Scoliosis (50%) Protrusio. Acetabuli (15-25%) Ligamentous laxity Recurrent dislocations Pes planovalgus
Cardiac - aortic root dilatation, aortic dissection, mitral valve prolapse Superior lens dislocation(60%) Pectus excavatum Spontaneous pneumothoraces Dural ectasia (60%) Meningoceole
3 contraindications to physeal bar resection
> 50% physis involved
<2 cm growth remaining
Causes of anterolateral tibial bowing
NF (50%) Congenital pseudarthrosis Tibia Tibia hemimelia OI Malunion
Classification Anterolateral tibial bowing
Boyd & Crawford - not prognostic
1) non-dysplastic. Increased cortical density and normal but narrow canal
Type 2 - Dysplastic
2A) Failure of tubularisation & wide canal
2B) Cystic lesion, prefracture or #
2C) Pseudarthrosis & bone atrophy with sucked candy
Ten associates deformities with Fibular hemimelia
- Absent fibula
- Genu Valgum
- Hypoplastic LFC
- Absent ACL
- Femur and tibia bowing
- Ball and socket ankle joint
- Tarsal coalition
- LLD - Coxa vara, PFFD, short tibia
- Absence lateral Rays foot
- Equinovalgus foot
Causes of Leg length discrepancy
Congenital
LL deficiency - PFFD, tibia or Fibular hemimelia
Hemi hypertrophy
Skeletal dysplasias - Olliers, NF, MHE, fibrous dysplasias
Acquired Traumatic - fracture, non-union, dislocation, physeal arrest, radiation Infections - OM, septic arthritis Inflammatory - JRE, haemophilia, PVNS Vascular Tumour Neurological / paralytic - Cp, polio, myelodysplasia AVN /ON - femoral head AVN, perthes Iatrogenic / Surgery
Genetics of Achondroplasia
Autosomal dominant but 90% new mutations
FGFR-3
Glycine to arginine
Long bones formed by endochondral ossification
Growth plates with most growth normally - most affected - rhizomelic
Definition of achondroplasia and Pseudoachondroplasia
Inherited AD disproportionate rhizomelic dwarfism with dystrophic facial features, spinal abnormalities and genuine varum
Originally compared to Rickets with proportionate short stature - Parrot 1879
Pseudoachondroplasia is an Inherited AD disproportionate rhizomelic dwarfism with normal facial features
Causes of torticollis - 4 headings
1) CONGENITAL MUSCULAR TORTICOLLIS (CMT)(most common 80%)
2) INFLAMMATORY TORTICOLLIS
3) NEUROGENIC TORTICOLLIS
- Klippel-Feil Syndrome(second most common)
- Syringomyelia
- Arnold-Chiara Malformations
- Posterior Fossa Tumours
- Cervical Tumours
- Ocular Dysfunction
- Paroxysmal Torticollis of Infancy
4) BONY MALFORMATION TORTICOLLIS
- Atlanto-Occipital Anomalies
- Unilateral Absence of C1
- Atlantoaxial Rotatory Displacement
- Basilar Impression
- Familial Cervical Dysplasia
What is classification of paediatric tibial spine avulsion? What is the paper on laxity?
Myers-McKeever
- Undisplaced
- Posterior hinge
- Displaced
- Comminuted
WILLIS (JPO 1993) found 74% of patients had signs of laxity on KT-1000 testing (>3mm compared to contralateral side) in 50 patients (all had no instability).
What are different classifications for SCFE?
• Duration of symptoms divides into: ⇨ PRESLIP (Normal xrays but clinical features) ⇨ ACUTE SLIP (3 WEEKS) ⇨ ACUTE ON CHRONIC SLIPS • Most cases are chronic slips (85%).
Loder Classification
• LODER CLASSIFICATION is the most widely used classification abed on SCFE stability
• Based on LODERS paper (JPO 2001).
• Significant of classification is determining risk of AVN.
• SCFE are divided into:
⇨ STABLE – ABLE TO WEIGHTBEAR(0% RISK AVN)
⇨ UNSTABLE – UNABLE TO WEIGHTBEAR(47% RISK AVN)
Degree of Slip
• This is based on the SOUTHWICK SLIP ANGLE severity.
• Normal slip angle of 12
50° severity
Radiological signs of SCFE
• Xrays findings: AP ⇨ WIDENED PHYSIS ⇨ KLEINS LINE (AP) ⇨ REMODELLING ANTEROSUPERIOR METAPHYSIS (AP) ⇨ METAPHYSEAL BLANCH SIGN OF STEEL (AP) LATERAL ⇨ SOUTHWICK SLIP ANGLE • Widening of the physis is a common sign indicating a sick physis.
Genetics of SED
defect in COL2A1 gene on CHROMOSOME 12.
•dysfunction of TYPE II COLLAGEN.
• Type II collagen major component of ECM of the HYPERTROPHIC ZONE.
• Note, EDS affects COL5A1 and COL5A2 (type 5 collagen).
• There are 2 forms:
⇨ SED CONGENITA(AD / More Severe)
⇨ SED TARDA(X LINKED / Less Severe)
Associated conditions with Sprengel shoulder
- KLIPPEL-FEIL SYNDROME (congenital fusion of the cervical spine C2-C7)
- CONGENITAL SCOLIOSIS
- DIASTEMATOMYELIA
- KIDNEY DISEASE
- OTHER UPPER EXTREMITY ANOMALIES
Conditions associated with Tarsal coalition
⇨ FIBULAR HEMIMELIA
⇨ PFFD
⇨ APERT SYNDROME
⇨ NIEVERGELT PEARLMAN SYNDROME
Manifestations of Spina Bifida
• There are both SKELETAL & EXTRASKELETAL (mainly neurosurgical) manifestations. SKELETAL AXIAL ⇨ SCOLIOSIS ⇨ KYPHOSIS APPENDICULAR ⇨ PATHOLOGICAL FRACTURES ⇨ UPPER LIMB (NEUROLOGICAL DEFICITS) ⇨ HIP (DISLOCATION / CONTRACTURES) ⇨ KNEE (CONTRACTURES / ROTATIONAL DEFORMITIES) ⇨ FOOT (TERATOGENIC CTEV) EXTRASKELETAL ⇨ NEUROSURGICAL (SYRINX/ARNOLD-CHIARA/TETHERED CORD/HYDROCEPHALUS) ⇨ UROLOGCIAL ⇨ LATEX ALLERGY
Genetics and classification of SMA
AR - chromosome 5
1 in 20,000
Werding & Hoffman
1 - severe - acute WH disease
- occurs 0-6 months die by 2
2 - intermediate - chronic WH disease
- occurs by 6-24 months - can’t walk and live to 40/50
3 - mild - kugelberg-Welander disease - occurs by 2-10 yrs. walk but not run.
Types of proportionate dwarfism
⇨ MUCOPOLYSACCHARIDOSIS ⇨ CLEIDOCRANIAL DYSOSTOSIS ⇨ OSTEOGENESIS IMPERFECTA ⇨ CONSTITUTIONAL SHORT STATURE ⇨ CHRONIC DISEASE ⇨ MALNUTRITION ⇨ ENDOCRINOPATHIES
Genetics of Achondroplasia
It is the most common skeletal dysplasia - 1 in 30,000.
AUTOSOMAL DOMINANT - However, 90% of all cases are due to NEW MUTATIONS (usually offspring to normal stature patents).
Mutation of the FGFR-3 gene located on CHROMOSOME 4.
Glycine to Arginine substitution
Pseudoachondroplasia
COMP gene on Chr 19 - cartilage oligomeric matrix protein
Features of Achondroplasia
SKELETAL AXIAL ⇨ FORAMEN MAGNUM STENOSIS ⇨ THORACOLUMBAR KYPHOSIS ⇨ SHORT LUMBAR SPINE (↓ L1-L5 INTERPEDICULATE DISTANCE) ⇨ LUMBAR HYPERLORDOSIS (HIP FLEXION CONTRACTURE) ⇨ SPINAL STENOSIS APPENDICULAR ⇨ SHORT STATURE ⇨ RHIZOMELIC SHORTENING WITH NORMAL TRUNK ⇨ CHAMPAGNE GLASS PELVIC OUTLET ⇨ RADIAL HEAD POSTERIOR DISLOCATION ⇨ TRIDENT HANDS ⇨ GENU VARUM EXTRASKELETAL ⇨ DYSTROPHIC FACIAL FEATURES (FRONTAL BOSSING / MIDFACE HYPOPLASIA) ⇨ FLAT CHEST ⇨ PROTUBERANT ABDOMEN ⇨ OTOLARYGNGEAL
Genetics of Achondroplasia
It is the most common skeletal dysplasia - 1 in 30,000.
AUTOSOMAL DOMINANT - However, 90% of all cases are due to NEW MUTATIONS (usually offspring to normal stature patents).
Mutation of the FGFR-3 gene located on CHROMOSOME 4.
Glycine to Arginine substitution
Definition of Achondroplasia vs pseudo achondroplasia
ACHONDROPLASIA is an inherited AUTOSOMAL DOMINANT DISPROPORTIONATE RHIZOMELIC DWARFISM with DYSMORPHIC FACIAL FEATURES.
First used by PARROT (1879) to differentiate from RICKETS (which manifests as a PROPORTIONATE SHORT STATURE)
PSEUDOACHONDROPLASIA is an inherited AUTOSOMAL DOMINANT RHIZOMELIC DWARFISM with NORMAL FACIAL FEATURES.
Skeletal dysplasias
Achondroplasia - FGFR-3
Hypochondroplasia - FGFR-3. Milder
SED congenita - Type 2 collagen COL2A1 AD but sporadic
SED tarda -Type 2 unidentified - x-linked
Kniest - Type 2 collagen in COL2A1 AD - jt contractures
Cleinocranial dysplasia - CBFA-1 defect (Transc factor) AD and RUNX2 gene abnormal
Nail-Patella - LIM homeobox Transc factor 1-Beta
Diastrophic dysplasia - Sulfate transporter gene AR - FINLAND
Mucopolysaccaridoses - defects in glycosaminoglycan degrading enzymes in lysosomes. All AR except Hunter - x-linked
Metaphyseal dysplasia (Schmid) Type X collagen COL10A1 AD
Metaphyseal dysplasia (Jansen) Mutation in PTHhR. prolif / hypertrophic zones
Metaphyseal dysplasia (McKusick) Mutation RMRP - prolif / hypertrophic zones
Psudoachondroplasia - COMP chr 19
MED - mutation in COMP, COL9A2, COL9A3 - collagen IX AD
EVC syndrome - EVC gene AR
Diaphyseal dysplasia - AD
Leri-Weil dyschondrosteosis - SHOX gene tip of sex chrome AD
Menke syndrome x-linked. Copper transporter defects - kinky hair
Occipital horn syndrome - Copper transporter defects - bony projections occiput
Skeletal dysplasias with c1-2 Instability
Mucopolysaccaridoses
Metaphyseal dysplasia - McKusick
Pseudoachondroplasia
Features of diastrophic dysplasia
Autosomal recessive - 1 in 70 in Finland Rhizomelic Short stature Cervical kyphosis kyphoscoliosis hitchhiker thumbs cauliflower ears 80% cleft palate 60% RIGID CLUBFOOT skewfoot severe OA joint contractures
Affects reserve zone growth plate with Gauchers and Paeudoachondr
Prolif - Achondrogenesis, gigantism, MHE
Hypert- SCFE, #s, rickets
Calc- scurvy, corner #
Features of cleidocranial dysplasia
Aplasia/hypoplasia of clavicles
Delayed skull suture closure & Wormian bones
Frontal bossing
Delayed ossification pubis
Coxa vara
Genu valgum
Short Middle phalanges of 3-5 rays
Features of Kniest dysplasia
Joint contractures kyphosis/ scoliosis dumbell shaped femora respiratory problems cleft palate retinal detachment/myopia otitis media/hearing loss early OA
Features of nail patella syndrome
Oste-onycho-dysplasia Aplasia/hypoplasia of patellae and condyles Dysplastic nails iliac horns posterior dislocation radial head 30% renal failure and glaucoma as adults
What are the mucoploysaccaridoses?
Lysosomal storage diseases that result in the intracellular accumulation of mucopolysacarides in multiple organs
All autosomal recessive except MPS II (Hunter’s) - x-linked
Detect with urine sample and skeletal survey
Assay for enzyme activity in skin fibroblast culture or shite blood cells
