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TorontoOrtho Peds Conditions
Terms in this set (147)
Methods of classifying skeletal dysplasias (5)
Proportionate vs. disproportionate
By bone segment involved
Rhizomelic - proximal
Mesomelic - middle
Acromelic - distal
By bone involved
By causative gene defect
By presence or absence of spine involvement
Disorders of the primary ossification centre (3)
Proximal femoral focal deficiency
Disorders of the secondary ossification centre (4)
Spondyloepiphyseal dysplasia congenital
Spondyloepiphyseal dysplasia tarda
Multiple epiphyseal dysplasia
Disorders of hypertrophic zone (3)
Disorders of osteoid production (2)
Disorders of bone remodelling (7)
Disorders of FGFR3 (3)
(H.A.T. - there are 3 disorders of FGFR3)
Functions of fibroblast growth factors (5)
Disorders of collagen oligomeric matrix protein (COMP) (2)
Multiple epiphyseal dysplasia
Disorder of parathyroid hormone-related peptide (1)
Jansen's metaphyseal chondrodysplasia
(Dwarves of stone (↑ Ca2+) stand alone)
Differential diagnosis of Caffey's disease (infantile cortical hyperostosis) (4)
Progressive diaphyseal dysplasia
Disorders of collagen (9)
Osteogenesis imperfecta (COL1)
Ehlers-Danlos syndrome (COL1/3/5)
Spondyloepiphyseal dysplasia congenital (COL2)
Spondyloepiphyseal dysplasia tarda (SEDL/TRAPPC2)
Kniest dysplasia (COL2)
Precocious arthritis (COL2)
Stickler syndrome (COL2/11)
Schmidt metaphyseal chondrodysplasia (COL10)
Disorders associated with structural protein deficits (9)
Multiple epiphyseal dysplasia
Spondyloepiphyseal dysplasia congenital
Schmidt's metaphyseal chondrodysplasia
Ehler's Danlos syndrome
[Think Collagen Disorders!!!]
Disorders associated with enzymatic gene defect (8)
X-linked recessive disorders (5)
Spondyloepiphyseal dysplasia tarda
Duchenne's muscular dystrophy
Becker's muscular dystrophy
X-linked dominant disorders
Differential diagnosis of short limb disproportionate dwarfism (4)
Ellis Van Creveld disease
Differential diagnosis of Erlenmeyer flask femurs (11)
Multiple hereditary exostoses
Osteopetrosis (Albers-Schonberg disease)
Sickle cell anemia
Which bones form via intra-membranous ossification? (3)
Basilar invagination in pediatrics is associated with what conditions? (name 6)
Klippel Feil syndrome
What three general types of defects may result in infants born to those with uncontrolled diabetes?
1) Heart Defects
2) Sacral Agenesis
Conditions associated with malignant hyperthermia
Hypermetabolic response to potent volatile anesthetic gases and deparizing muscle relaxant sux
Conditions associated with cervical instability
Conditions associated with basilar invagination
Define proportionate dwarfism. Which 3 conditions?
A symmetric decrease in both trunk and limb length
List short-trunked and short-limbed dysproportionate dwarfisms
- Diastrophic dysplasia
What is mealing of Rhizomelic, Mesomelic and Acromelic?
Shortening of :
Proximal - rhizomelic
Middle - mesomelic
Distal - acromelic
Zone of growth plate affected?
9 radiographic features?
1) rhizomelic shortening with a normal trunk
2) frontal bossing
3) button nose, small nasal bridges
4) TRIDENT hands (cannot approximate middle and ring fingers)
5) thoracolumbar kyphosis (usually resolves with ambulation)
6) SPINAL STENOSIS with lordosis and short pedicles
7) posterior radial head dislocation
8) "champagne glass" pelvic outlet
9) genu varum
A mutation in FGFR3 causing achondroplasia results in what cellular change?
An activation mutation leading to abnormal chondroid production by chondroblasts in the proliferative zone during enchondral bone formation at the physis.
An individual with achondroplasia that has a plateau or delayed motor milestones should allert a clinican to what potential issue?
Spinal stenosis - cervical/lumbar
What is the typical spinal xray findings of an achondroplastic dwarf?
Short pedicles with a decreased interpedicular distance from L1-S1
What is the typical PELVIC xray finding of an achondroplastic dwarf?
Champagne glass pelvis (pelvis wider than deep)
Mutation and inheritance?
Zone of growth plate affected?
Clinical features? (3)
Radiographic features? (5)
COMP, autosomal dominant
zone of proliferation
Short-limbed rhizomelic dwarfism with normal facial features
Lower extremity bowing may be valgus, varus, or windswept.
Joints may be hyperlax in early life but later develop flexion contractures
Epiphyses are delayed and abnormal,
metaphyseal flaring is present,
Platyspondyly is always present, but spinal stenosis is not present.
7 clinical features?
A sulfate transporter gene (mutation in the DTD gene on chromosome 5)
Short limbed dwarfism (TWISTED DWARF)
Cervical kyphosis, T-L scoliosis
Joint contractures (hip flexion, genu valgum with dislocated patellae)
rigid clubfeet or skewfeet
Radiographs of what area are the most important to obtain in Diastropic Dysplasia? Why is this?
Cervical xray - severe cervical kyphosis requiring treatment
8 clinical features?
Defect in core-binding factor alpha 1 (CBFA-1), which is a transcription factor for osteocalcin
Affects intramembranous ossification (pelvis, clavicles, skull)
1) Proportinate dwarfism
2) Clavicle dysplasia/aplasia
3) Wormian bones
4) Frontal bossing
5) Delayed fontanelle ossification (due to a delay in closure of skull sutures
6) Coxa Vara (consider operative management of neck-shaft angle less than 100)
7) Shortened middle phalanges of 3-5 fingers
8) Delayed ossification of pubis
Multiple Epiphyseal Dysplasia
5 Clinical features?
COMP; COL9A2 - Autosomal dominant
Defect in type 2 collagen
Multiple abnormal epiphyses (often confused for bilateral Perthes disease)
Shortened metacarpals and metatarsals
No spinal involvement
Spondylo-Epiphyseal Dysplasia (SED)
2 mutations and their phenotypes?
Spinal abnormalities (2)?
1) COL2A1: Autosomal Dominant
SED congenita (more severe)
- Coxa vara
- genu valgum
- planovalgus feet
- retinal detachment
- hearing loss
- Respiratory problems
- Atlantoaxial instability
2) SEDL gene: X-linked recessive
- No lower limb bowing, but dislocated hips occur
- 8-10yo prsentation
- Cervical instability
The phrase platyspondyly refers to...
flattened vertebral bodies noted on radiographs
In spondyloepiphyseal displasia it is important to rule out what?
A radiologist report commenting on dumbell-shaped femora in the presence of a short-trunk dwarf should make you think of...
You are shown an xray of an INFANT patient with multiple punctate calcifications seen on radiographs. What diagnosis is:
Name the three types of metaphyseal chondrodysplasias and their etiologies.
1) Jansen - defect in parathyroid hormone related peptide
2) Schmid type: genetic defect in type X collagen
3) McKusick type - autosomeal recessive; aka cartilage-hair dysplasia
What are Walker's sign, Steinberg's sign and the Arm span:Height ratio?
Why get MRI and Echo prior to scoliosis correction?
Name 3 orthopaedic manifestations of the disease?
Walker's sign = thumb and index finger wrap around contralateral wrist
Steinberg's sign = adducted thumb in palm protrudes from ulna border of hand
Arm span:Height >1.05
MRI - dural ectasia
Echo - Cardiac dilatation, Aortic root dilatation
Scoliosis (long fusion);
Acetabular protrusio (close the triradiate);
Findings of Marfan's syndrome (14)
- Superior lens dislocation
- Mitral valve prolapsed
- Aortic aneurysms/dissection
- Dural ectasia/meningocele
- Arm-span > height (> 1.05)
- Wrist hypermobility (Steinberg sign)
- MCP hypermobility (Walker's sign)
- Acetabular protrusio
- Genu valgum
- Patellar dislocation
- Pes planovalgus
(Proximal → distal)
What are common radiographic findings in Marfan syndrome?
1) Acetabular Protrusio
A patient presents to your clinic with a diagnosis of Marfan syndrome and scoliosis, and asks about bracing. You tell them...
Bracing is ineffective, surgery is only option for larger curves
Superior lens dislocations are associated with what condition?
A patient with a marfanoid-like body habitus but stiff joints should be investigated for what genetic condition?
Inferior lense dislocaiton is associated with what condition?
What test is used to deomonstrate increased homocysteine in the urine?
Cyanide-Nitroprusside test (homocysteine in urine)
What is the metabolic cause for homocystinuria?
An inborn error of methionine metabolism - decreased enzyme cystathionine B-synthase resulting in accuumlatio of intermediate metabolite homocysteine in the production of the amino acid cysteine
How is homocysinuria treated?
Vitamin B6 and a diet with decreased amounts of methionine
What is the inheritance pattern and the gene involved in patients with homocystinuria?
Inborn error of methionine metabolism (decreased enzyme cystathionine B-synthase)
Most common mutation and inheritance pattern?
COL5A1 or COL5A2, the gene for type V collagen
(type V collagen is important in the assembly of proper skin matrix collagen fibrils and of the basement membrane)
this classic form is autosomal dominant
What are typical clinical findings in those with Ehlers-Danlos syndrome?
Hyperextensibility of cigarette paper skin
Joint hypermobility and dislocation
Soft tissue and bone fragility
Soft tissue calcification
Osteogenesis imperfecta result from what genetic mutation? What is the net physiologic effect?
The majority have a COL1A1 and COL1A2 mutation causing abnormal collagen cross-links. Physeal osteoblasts cannot form sufficient osteoid and thus cannot remodel normally
Classification of osteogenesis imperfecta (Sillence) (4)
Type I - Autosomal dominant.
Mildest form. Presents at preschool age (tarda).
Hearing deficit in 50%. Divided into type A and B based on tooth involvement
Type II - Autosomal recessive
Lethal in perinatal period
Type III - Autosomal recessive
Fractures at birth. Progressively short stature. Most severe survivable form
Type IV - Autosomal dominant
Moderate severity. Bowing bones and vertebral fractures are common. Hearing normal. Divided into type A and B based on tooth involvement
Blue Sclera are found in what types of Osteogenic Imperfecta?
Types I and Types II
(Types II lethal, thus if you see in older patients think type I)
Histologic findings of osteogenesis imperfecta (6)
Increased diameter of haversian canals
Increased size of osteocyte lacunae
Increased number of cells
Replicated cement lines
Decreased number of trabeculae
Decreased cortical thickness
List the orthopaedic manifestations of osteogenesis imperfecta
1) Bone fragility and fractures
2) Ligamentous laxity
3) Short stature
5) Codfish vertebrae
6) Basilar invagination
7) Olecranon apophyseal avulsion
What radiographic findings are noted in patients with osteogesis imperfecta?
1) Think Bones
2) Generalized Osteopenia
Outcomes of bisphosphonate treatment of osteogenesis imperfecta (3)
Increased cortical thickness
Decreased fracture rates
Progressive bowing of extremities in patients with osteogenic imperfecta can be treated with what?
Sofield osteotomies - multiple long bone osteotomies with either fixed length Rush rods or telescoping intramedullary rods.
In patients with osteogenic imperfecta, it is important to rule out what process later in life in patients come in with altered consciousness or ataxia?
What medical therapy should be used in patients with osteogenic imperfecta? What is a known complication of this medication?
Complication: Iatrogenic Osteopetrosis
What is the etiology behind the 'mucopolysaccharidoses' group?
A defect in the lysosomal enzymes that break down glycosaminoglycans. Recall - glycosaminoglycans are long sugar carbohydrate chains that help build bone, cartilage, tendons, corneas, skin and connective tissue.
What kid of dwarfism?
3 types and clinical pictures?
3 radiographic findings
Defect in the gene encoding beta glucocerebrosidase, which breaks down glucocerebrosides, leads to accumulation of glucocerebrosides in macrophages in many organ systems.
Type 1 (adult): easy bruising (thrombocytopenia), anemia, enlarged liver/spleen, bone pain/fractures
Type 2 (infantile): enlarged spleen/liver by age 3 months; brain involvement; lethal by age 2 years
Type 3 (juvenile): onset in teen years; (thrombocytopenia), anemia, enlarged liver/spleen, bone pain/ fractures; gradual and mild brain involvement
1) Metaphyseal enlargement
2) Femoral Head Necrosis
3) Moth-eaten trabeculae
4) Patchy Sclerosis
5) Erlenmeyer flask deformity of the distal femora
What is the importance of enzyme therapy in the context of a patient with Gaucher's disease who is considering a total hip replacement?
Patients need to be on the enzyme for at least 1 year if they are to be considered for therapy.
What are the 4 main forms of Mucopolysaccharidoses?
- normal intelligence
- death 1st decade
- heparan sulphate
- death 2nd decade
- dermatan & heparan
- death in 2nd decade
Name 8 orthopaedic manifestations of mucopolysaccharidosis:
1) Proportionate dwarfism
2) Occipito-cervical instability
3) Thoraco-lumbar Kyphosis (i.e. gibbus deformity)
5) Hip Dysplasia
6) Abnormal epiphyses
7) Genu Valgum
8) Carpal Tunnel Syndrome
Name 8 non-orthopaedic manifestations of mucopolysaccharidosis:
- Visceromegaly (englarged abdomen)
- corneal clouding
- cardiac disease
- mental retardation (EXCEPT MORQUIO)
- enlarged skull
A patient who presents with a thoracolumbar kyphosis (gibbis deformity) and carpal tunnel syndrome should be investigated for what condition?
What are two potential non-orthopaedic treatments for mucopolysaccharide disorders?
1) Hematopoietic stem cell transplantation (addresses cognative decline)
2) Enzyme Replacement Therapy (does not cross blood brain barrier thus does not address cognative issues).
Bullet shaped metacarpals in the context of a dwarf should make you think of...
Morquio syndrome (a mucopolysaccharidoses)
In mucopolysaccharidoses it is important to obtain what to rule out what important complication?
A flexion/extension c-spine xray to identify odontoid hypoplasia leading to cervical instability.
Finding of what sugar in the blood is highy suggestive of Morquio sndrome?
What is the underlying cause of C1-C2 instability seen in Morquio syndrome?
Urinary excretion of what sugar is associated with Hurler syndrome?
What is the genetic inheritance pattern for Osteopetrosis (either mild or malignant)
Mild: Autosomal Dominant
Malignant: Autosomal Recessive
The autosomal dominant form of osteopetrosis has been liked to one of three genes. Name them.
1. Carbonic anhydrase II
2. Alpha 3 subunit of vacuolar proton pump
3. Chloride channel 7
What is the physiological cause of osteoporosis?
An inability to acidify the clear zone, failure of osteoclastic resorption, likely secondary to a defect in the thymus.
What non-orthopaedic manifestations accompnay osteopetrosis?
Hepatosplenomegaly (due to compensatory extramedullary hematopoiesis)
Phrases like 'erlenmeyer flask' of proximal humerus and distal femur and 'rugger jersy spine' and 'bone within a bone' should make you think of...
A patient with Osteopetrosis presents with a fracture. What do you tell them about the ability of their bone to heal and the length of time it will require?
Healing is Normal
Will require longer to heal
What is Caffey disease? What is on the differential diagnosis?
Caffey Disease (or Infantile COrtical Hyperostosis) is a soft tissue swelling and bony cortical thickening that follow a febrile illness in infants 0 to 9 months of age.
5) Progressive diaphyseal dysplasia
6) Child Abuse
Rickets is caused by a deficiency of what
Calcium (potentially phosphorus)
What are the histologic growth plate abnormalities in rickets?
Growth plate abnormalities include enlarged and disordered maturation zone (zone of hypertrophy) with poorly defined zone of provisional calcification
Types of Rickets (5)
Vitamin D dependent
Vitamin D resistant (hypophosphatemic) - MOST COMMON IN NA, x-linked dominant
Vitamin D deficient (nutritional)
Renal - elevated BUN/Cr
5 radiographic features.
widened osteoid seams
prominence of the rib heads (osteochondral junction [ie, rachitic rosary])
bowing (particularly genu varum)
transverse radiolucent Looser lines
enlargement of costal cartilage (rachitic rosary)
Rickets. 6 lab tests to evaluate cause?
parathyroid hormone (PTH)
25 hydroxyvitamin D
1,25 dihydroxyvitamin D
Rickets. Name the 5 main types, the deficiency and Mx.
1) Hypophosphatemic rickets:
X-linked dominant, impaired renal phosphate absorption
Decreased phosphate; normal calcium, PTH, and vitamin D; increased AlkP
2) Vitamin D-deficient rickets
Nutritional. Decreased vitamin D, calcium, and phosphate;
Mx: Vitamin D
3) Vitamin D-dependent rickets, type 1
Autosomal recessive; defect in renal 25-hydroxyvitamin D 1-α-hydroxylase
Low calcium and phosphate; normal 25-hydroxyvitamin D, very LOW 1,25-dihydroxyvitamin D; high AlkP and PTH
Mx: 1,25-dihyroxyvitamin D replacement
4) Vitamin D-dependent rickets, type 2
Defect in the intracellular receptor for 1,25-dihydroxyvitamin D
Low calcium and phosphate; high alkaline phosphatase and PTH; very HIGH 1,25-dihydroxyvitamin D levels
Mx: High-dose 1,25-dihydroxy-vitamin calcium
Autosomal recessive, deficient or nonfunctional AlkP
Increased calcium and phosphate levels; very low alkaline phosphatase levels; normal PTH/vitamin D levels
Early loss of teeth
Diagnostic criteria for juvenile idiopathic arthritis (3)
Persistent, non-infectious arthritis lasting 6-12 weeks
All other possible causes ruled out
Rheumatoid factor (+)
Cervical spine involvement
Definition of an active joint in juvenile idiopathic arthritis (1 of 2)
≥ 2 of:
Types of presentations of juvenile idiopathic arthritis (3)
Systemic (Still's disease) (least common, poorest prognosis)
Oligoarticular (≤ 4 joints) (most common, best prognosis)
Polyarticular (≥ 5 joints) (middle)
Findings of Still's disease (8)
Findings of juvenile idiopathic arthritis (8)
Flexed/ulnar deviated wrists
Extended/radially deviated fingers
(Proximal → distal)
In JIA, what periodic investigation is required 2x a year as screening?
slit lamp examination as progressive iridocyclitis (iritis) can lead to rapid loss of vision if left untreated
Order of joint involvement in juvenile idiopathic arthritis (5)
(Most common → least common)
What is typical wrist and hand deformity in JIA?
Wrist - flexed and ulnar deviated
Hand - extended and radially deviated
XR findings of juvenile idiopathic arthritis (3)
Symmetric joint space narrowing
Components of treatment for juvenile idiopathic arthritis (12)
Intraarticular steroid injections
Risk factors for requiring surgery with JIA (3)
Positive rheumatoid factor with Polyarticular disease
Rapidly progressing systemic onset
Progression from pauciarticular to polyarticular
Indications for synovectomy in JIA (6)
Involvement of one or a few joints
Failure of nonsurgical treatment
No radiographic evidence of articular cartilage destruction
Significant decrease in ROM/contracture
What is the natural history for juvenile idiopathic arthritis?
50% will have resolution of symptoms
25% will be slightly disabled
25% will have crippling arthritis or blindness
What genetic locus is often positive in pts with ank spon?
What percentage of ank spon pts are HLA-B27 positive?
What percentage of general populationi?
90-95% of ank spon or Reiter syndrome pts
4-8% of all white americans
Clinical presentation of ankylosing spondylitis (4)
Asymmetrical lower extremity large joint arthritis
Hip/back pain (later)
What is the most specific clinical finding in ankylosing spondylitis?
limited chest wall expansion is more specific than positive HLA-B27
Findings of psoriatic arthritis (4)
Characteristic skin rash (silvery plaques on extensor surfaces)
Pencil-in-cup deformity of phalanges
Findings of Reiter's syndrome (reactive arthritis) (5)
Infections that can trigger Reiter's syndrome (5)
What are the 3 types of Juvenile Idiopathic Arthritis and how do they differ?
1. Systemic JIA/JRA (Still disease) = 20%
1. Clinical: Rash, high fever, multiple inflamed joints, acute presentation
2. Labs: Anemia, high WBC
3. Systemic: Serositis, hepatosplenomegaly, lymphadenopathy, pericarditis
4. RULE OUT INFECTION
5. 5-10 years; F=M
6. Poorest long-term prognosis
2. Oligoarticular JIA (previously known as pauciarticular JRA) = 30-40%
2. <4 joints, large joints
3. 2-3 years; F>M.
4. A limp that improves during the day is typical.
5. 20% have uveitis.
6. LLD with the affected side often LONGER
7. 70% remission
3. Polyarticular JIA/polyarticular JRA
1. >5 joints, small joints
2. Uveitis less common than in oligoarticular JIA
4. 60% remission
Name 4 seronegative arthropathies.
Reactive arthritis - Chlamydia, Yersinia, Salmonella, Campylobacter, or Shigella. "Can't see, can't pee, can't climb a tree" is useful to remember the associated conjunctivitis and dysuria. Mouth ulcers and a rash on the hands and feet can occur.
Enteropathy-associate arthritis - Crohn's, UC
What is idiopathic juvenile osteoporosis? What must you rule out in this condition?
A rare self-limiting disorder appearing between the ages of 8 and 14 years with osteopenia, growth arrest and bone and joint pain. You must rule out other causes of osteopenia (osteogenesis imperfecta, malignancy, Cushing disease)
Differential diagnosis of idiopathic juvenile osteoporosis (4)
Findings of idiopathic juvenile osteoporosis (5)
Onset before puberty
Pain the back/extremities
Multiple fractures (metaphyseal compression - distal tibia and vertebral)
Osteoporosis on XR
Normal laboratory studies
Criteria for diagnosis?
2 or more of the following for diagnosis:
1) six or more café-au-lait macules over 5 mm in greatest diameter in prepubertal individuals and over 15 mm in postpubertal individuals.
2) two or more neurofibromas of any type or one plexiform neurofibroma.
3) freckling in the axillary or inguinal region.
4) optic glioma.
5) two or more Lisch nodules (iris hamartomas).
6) osseous lesion such as sphenoid dysplasia or thinning of long bone cortex with or without pseudarthrosis.
7) first-degree relative (parent, sibling, or offspring) with NF-1 by the above criteria
7 Orthopaedic manifestations
Orthopaedic manifestations of NF:
1. Anterolateral bowing of tibia
3. Sharp scolosis
4. Penciling of ribs
5. Scalloping of end plates
6. Dural ectasia
7. Limb overgrowth
Accumulation of sphingomyelin in the reticuloendothelial system cells is characteristic of what disease?
What is the most common cause of osteomyelitis in Sickle Cell anemia patients?
S. Aureus (note: Salmonella is more commonly seen in Sickle patients compared to others)
A sickle cell crisus is caused by what molecule?
Mutation in what gene is the cause of sickle cell anemia? How do cells sickle?
Mutation in the B-globin gene.
When the cell becomes deoxygenated the HbS molecules assemble into fivers that produce a sickle-shaped red blood cell
What are two ways to differentiate sickle crisis from osteomyelitis?
1) Sequential bone marrow tests and bone scans within 24 hours of hospital admission
2) Gadolinium enhanced T1 weighted MRI sequences.
3) Bone marrow aspiration
What is the aetiology behind Hemophilia A?
Decreased Amounts of Factor VIII
What is the etiology behind Hemophilia B?
Decreased amounts of Factor IX
When classifying hemophilia A/B what are the cut-offs between mild/moderate/severe?
Mild: 25-5% of normal amounts
Moderate: 5-1% of normal amounts
Severe: Less than 1% of normal amounts
What is the indication for surgical synovectomy in patients with hemophilia?
Hemarthroses that recur despite optimal medical management.
If considering a total knee arthroplasty in a patient with Hemophilia A what factor levels should be present pre-operatively and what levels should be maintained post-operatively?
Approachig 100% preoperatively
Maintained at 50% or greater post-operatively for 10 days
What antibodies can be found in 4-20% of patients with hemophilia that receive transfusions and what is their surgical significance
1) IgG antibodiy inhibitors
2) They are a relative contraindication to surgery
What is the most common malignancy of child-hood?
Leukemia (ALL represents 80% of cases)
What is the clinical anifestation of Beckwith-Wiedemann syndrome?
Hemihypertrophy, spastic cerebral palsy, organometaly, omphalocele
What must be ruled out in a child with Beckwith-Wiedemann syndrome?
Wilms tumor (patient must be screened regularly with kidney ultrasonography)
What is the etiology behind Rett syndrome?
X-linked gene encoding a protein called methyl-CpG-binding protein 2 (MECP2)
What is the etiology behind Turner syndrome?
A patient who you are considerating on operating on for scoliosis also has turner syndrome. What will the anesthesiologists be worried about?
What is the etiology behind Prader-Willi syndrome?
Partial chromosome 15 deletion (missing portion from father). Results in obsese intellectually impaired adult with insatiable appetite.
What underlying defect is thought o explain the majority of orthopaedic manifestations in down syndrome?
Chromosome 21 is the location for genes of Type 6 collagen, and it is the collagen abnormality
A patient with down syndrome was diagnosed with asymptomatic cervical spine instability, he/she should avoid what three things from a sporting point of view?
1) Contact Sports
Orthopaedic manifestations associated with Down Syndrome
- atlantoaxial instability
- pes planus
- hip instability
- patellar dislocation
Scoliosis / Spondylolisthesis
Metatarsus primus varus
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