Paediatrics Flashcards

Question

Genetics of Achondroplasia

Answer 1

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

Answer 2

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.

Answer 3

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

Answer 4

Mucopolysaccaridoses Metaphyseal dysplasia - McKusick Pseudoachondroplasia

Answer 5

``` 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 #

Answer 6

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

Answer 7

``` Joint contractures kyphosis/ scoliosis dumbell shaped femora respiratory problems cleft palate retinal detachment/myopia otitis media/hearing loss early OA ```

Answer 8

``` Oste-onycho-dysplasia Aplasia/hypoplasia of patellae and condyles Dysplastic nails iliac horns posterior dislocation radial head 30% renal failure and glaucoma as adults ```

Answer 9

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

Answer 10

``` All have short stature others: Mental retardation enlarged skull bullet phalanges visceromegaly upper airway obstruction cardiac disorders cervical instability genu valgum late onset hip dysplasia hip CTS TRIGGER DIGITS ```

Answer 11

Lysosomal storage diseases that result in the intracellular accumulation of mucopolysacarides in multiple organs

Answer 12

``` All have short stature others: Mental retardation enlarged skull bullet phalanges visceromegaly upper airway obstruction cardiac disorders cervical instability genu valgum late onset hip dysplasia hip ```

Answer 13

BILATERAL Physiological Rickets Skeletal dysplasia - Morquio, SED UNILATERAL Physeal injury - trauma, infection, vasscular Proximal tibial fracture - Cozen Benign tumours - fibrous dysplasia, Ollier disease, osteochondroma

Answer 14

Aitken A - short femoral segment B - Dysplastic acetabulum. No connection head and shaft C - severe acetabular dysplasia. Ossicle for proximal femur D - no acetabulum. Large obturator foramen. No head or neck.

Answer 15

Delay surgery until 2.5 - 3 Address PF deformity and acetabular dysplasia before lengthening. Lengthening if 20cm Amputation van Ness rotationplasty - ankle into knee joint

Answer 16

Birch treatment guidelines Nonfunctional foot - Syme or Boyd Functional foot plus - LLD 30% - amputation

Answer 17

Jones Type 1 - Compete abscence Type 2 - Partial abscence - 2a - proximal 2b - distal 2c - Diastasis of tib-fib

Answer 18

``` Frantz & O'Rahilly Transverse deficiency Longitudinal Preaxial - medial - tibia/radius Post axial - lateral - Fibular/ulna ``` Amelia - complete absence Meromelia - partial absence

Answer 19

A) PFFD - no known inheritance patter B) TH - autosomal dominant. C) FH - no known inheritance pattern

Answer 20

Achterman & Kalamchi classification / Birch A&K Type 1 - hypophysis fibula. 1a - proximal epiphysis low / distal high 1b - proximal 30-50% / no ankle support Type 2 - absence of fibula Birch Functional foot 1a 0-5% loss of length - orthosis / epiphyseodesis 1b 5-10% loss of length e'desis +/- limb length 1c 10-30% lol 1 or 2 limb length / amputation 1d >30% lol >2 limb length / amputation Nonfunctional foot - 2a - functional upper limb - early amputation 2b - non-functional upper limb - limb salvage

Answer 21

Axial Atlanto-axial instability Scoliosis Spondylolisthesis ``` Appendicular Ligamentous laxity Pes planus Short stature Hands - simian crease, clinodactyl Hip - instability, SCFE Knee - PFJ instability ``` ``` Extra skeletal Developmental delay Abnormal facies Congenital heart defects - ASD, VSD Endocrine - hypothyroidism 15% Infertility ```

Answer 22

Tibial internal torsion Shortening Procurvatum Genu varum

Answer 23

The reserve zone. Stem cells

Answer 24

Infantile (25• Predominantly male Physeal bars uncommon

Answer 25

Metaphyseal beaking Fragmentation medial metaphysis adjacent to physis Straight lateral cortical wall prox tibial Metaphysis Subluxation proximal tibia laterally TibioFemoral angle - Metaphyseal- diaphyseal angle (Drennan) - 16• has 95% chance of progression Epiphyseal-diaphyseal angle >20• suggestive Blount's

Answer 26

Rockets most common DD BOPS Physiological Pathological Blount's OI Physeal injury Skeletal dysplasia

Answer 27

Hilgenreiner-Epiphyseal angle HEA >25 abnormal 60 likely to progress

Answer 28

Neurological - Myelomeningocele/ Downs Connective tissue - EDS Myopathic - Arthrogryposis, torticollis Systemic - Larsen syndrome Negative association with CTEV Associated with calaneovalgus

Answer 29

``` Family history Female First born Breech Packaging disorder - olighydramnios ```

Answer 30

``` Acetabulum (SLAD) Shallow Lateralised Anteverted Deficient - ant/sip/lat ``` ``` Femur (SASCPN) Small head ANTEVERSION Short neck - Coxa breva Coxa valga Posterior GT Narrow canal ```

Answer 31

DDH - ant/sup/lat CP - post/sup/lat

Answer 32

USS 50% coverage Alpha Graf angle >60• Beta <20 (20-40) older than 5 yo size of femoral head

Answer 33

Shapiro ``` 1- upward slope - all calculators based on this - congenital LLD 2- upward slope deceleration 3- upward slope plateau - femoral # 4- up slope - plateau - up slope - LCP 5- reverse parabola ```

Answer 34

Tethering of ligament of Vickers. Rad to Lunate Volar and ulna growth disturbance of distal radius physis V-shaped carpus. Druj instability. ``` MHE Ollier's Achondroplasia Mucopolysaccharides Turner syndrome Leri Weill dyschondrostosis - AD ```

Answer 35

``` Turner Marfan's EDS Morquio Trisomy 18&21 Osteogenesis imperfecta MPS type vii - Sly syndrome Scoliosis ```

Answer 36

Inherited AD disorder of neural crest origin characterised by dermatological, ophthalmological and skeletal abnormalities

Answer 37

``` Skeletal AXIAL Scoliosis - dystrophic and non Kyphosis Atlanta-axial instability Pencilled ribs Scalloped vertebrae Dumbbell lesion Dural ectasia Spinal neurofibromata ``` ``` APPENDICULAR Anterolateral tibial bowing Pseudarthrosis tibia Hemihypertrophy Metabolic bone disorder - osteoporosis ``` ``` Extra-skeletal DERM Cafe-au-lait - coast of California Axillary/inhumanly freckling Neurofibromas ``` OPHTHALMOLOGICAL Leisch nodules Optic glioma CARDIAC CVS, PVD, AMI & HT

Answer 38

Non-dystrophic Dystrophic Short, sharp curves - 4-6 levels Rapidly progressive Resistant to bracing Left sided If >3 ribs pencilled - 90% chance of rapid progression Consider surgery with 20-40• Cobb (normally >40•) NF-1 scoliosis screening requires CT & MRI MRI for Dural ectasia and intraspinal neurofibromas

Answer 39

NF-1 von Recklinghausen disease - chromosome 17 (17q21) NF-1 Gene. Codes for neurofibromim protein that down regulates p21 RAS proto-oncogene RAS signals homeostasis effects for osteoclast function. NF-2 acoustic neuromas - chromosome 22

Answer 40

NIH 1987 2 or more of 7 criteria A) 6 or more cafe-au-lait spots >5mm prepubertal >15mm postpubertal B) 2 or more neurofibromas of any type or 1 plexiform C) axillary or inguinal freckling D) optic glioma E) 2 or more leisch nodules F) distinct osseus lesion - thinning long bone cortex +/- pseudarthrosis G) 1st degree relative (diagnosed NF using this criteria)

Answer 41

Benign tumours of peripheral nerve sheaths Composed of Schwann cells, fibroblasts, peri rural cells and mast cells Rarely present at birth 80% of NF-1 develop n'fibromas by 20yo Plexiform neurofibromas have a higher rate of malignant transformation to neurofibrosarcoma

Answer 42

Low grade pilocytic astrocytoma of optic nerve and or optic Chiasm Can cause proptosis, decreased visual Acuity, nystagmus, optic disc atrophy

Answer 43

Idiopathic NF-1 Beckwith-Widemann syndrome (congenital overgrowth syndrome) Klippel-Trenaunay-Weber syndrome (vascular malformations) Proteus syndrome

Answer 44

Intra abdominal tumours. USS every 3-6 months until skeletal maturity. Screen for Wilm's tumour (nephroblastoma)

Answer 45

Osgood Schlatter's disease - tibial tubercle Singding-Larsen-Johansen syndrome - inferior pole patella Menelaus-Batten syndrome - superior patella pole

Answer 46

``` Patella hypoplasia Nail dysplasia Iliac exostoses (iliac horns 80%) Elbow dysplasia - radial head subluxations Clubfoot Scoliosis ```

Answer 47

NAI Genuine injury OI Hypophosphatasia Metabolic bone disorders (vitamin D disorders) Menkes syndrome (x-linked copper transport disease) Leukaemia

Answer 48

``` Any fracture before walking age Multiple injuries Recurrent injuries Unreasonable stories Multiple bruises Multiple fractures in various stages of healing Child with long bone injuries Child with head injuries Corner fractures Rib fractures Transphyseal distal humerus fractures ```

Answer 49

Waldenstrom Initial necrosis Fragmentation Re ossification Remodelling

Answer 50

Idiopathic AVN of immature femoral capital epiphysis ``` Age 2-teenage. Normally 4-8 1:1200 M>F 5:1 Unilateral 90% If bilateral consider skeletal dysplasia SED/MED DECREASED incidence in Blacks ```

Answer 51

San Filippo syndrome - heparin sulfate Morquio syndrome - keratin sulfate - most common Hunter syndrome - heparin and dermatan sulfate Hurler syndrome - dermatan sulfate - most severe All inherited Auto recessive except Hunter's - x-linked

Answer 52

Skeletal ``` Atlantic-axial instability Kyphosis Proportionate dwarfism Abnormal epiphysis DDH Bullet shaped phalanges Genu Valgum Increased CTS ``` ``` Exta-skeletal Mental retardation - except Morquiou's Enlarged skull Deafness Corneal clouding Cardiac disease Hepatosplenomegaly ```

Answer 53

``` Osteogenesis imperfecta Hypothyroidism Cleidocranial dysostosis Pyknodysostosis Hypophosphatasia Down syndrome ```

Answer 54

Rare disorder with irreducible dorsal dislocation of navicular on talus producing rigid flatfoot deformity Rockervottom foot consists of 1. Fixed hindfoot equinus - TA and peroneal a 2. Rigid mid foot Dorsiflexion- 2• to dislocated Navicular 3. Forefoot ABducted and Dorsiflexion - contracted EHL, EDL, Tib Ant. ``` 20% have FH. 50% neuromuscular condition or genetic disorder - myelodysplasia - Arthrogryposis - Diastematomyelia - Chromosomal abnormalities ```

Answer 55

CAMBA - >20 TAMBA - >60 Meary's >20• Talo-Calc >40 (normal 20-40) Camba and Tamba - haminishi. J Paed Orthop 1984 Calcaneal / tibial first MT base angle. Marks changing point from flexible to rigid.

Answer 56

Nil It's sporadic with no inheritance pattern.

Answer 57

Reserve zone - Diastrophic dysplasia, Gauchers and Paeudoachondr Prolif - Achondrogenesis, gigantism, MHE Hypert- SCFE, #s, rickets, SED/MED, enchondroma, MPS Calc- scurvy, corner #

Answer 58

Infection - septic joint, OM, abscess, vertebral OM discitis Inflammatory - JRA, transient synovitis, Reactive arthritis, Reiter's, sacroilititis Trauma - Fracture, dislocation Tumour Other - PVNS, haemophilia, SCFE, AVN - Perthes

Answer 59

``` Spinal Cervical instability AA instability Platyspondyl Kyphosis Scoliosis ``` ``` SED Congenital Coca vara Genu valgus Planovalgus feet Retinal detachment Myopia Hearing loss ``` Tarda - no lower limb except occasional hip dislocation

Answer 60

``` Rachitic rosary Codfish vertebrae Genu varum Widened osteoid seams and physeal cupping Muscle hypotonia dental disease pathological fractures waddling gait ```