Pediatrics Flashcards
Abnormal development.
Dysplasia.
Achondroplasia defect.
FGFR3
Hyprochondroplasia defect.
FGFR3
Thanatophoric dysplasia defect.
FGFR3
Pseudoachondroplasia defect.
COMP
Multiple epiphyseal dysplasia type I defect.
COMP
Multiple epiphyseal dysplasia type II defect.
Collagen type IX.
Diastrophic dysplasia defect.
Sulfate transporter gene.
Craniosynostosis defect.
FGFR2
Cleidocranial dysplasia defect.
CBFA1
Hypophosphatemic ricks defect.
PEX
Marfan syndrome genetic defect.
Fibrillin-1
Osteogenesis imperfecta defect.
Collagen type I
Duchenne muscular dystrophy genetic defect.
Dystrophin
Charcot-Marie-Tooth disease genetic defect.
PMP22
Myotonic dystrophy genetic defect.
Myotonin.
Friedrich ataxia genetic defect.
Frataxin.
Symmetric decrease in both trunk and limb length.
Proportionate dwarfism.
Two broad types of disproportionate dwarfism.
- Short-trunk variety
2. Short-limb variety
Rhizomelic dwarfism.
Proximal limb short.
Mesomelic dwarfism.
Middle limb short.
Acromelic dwarfism.
Distal limb short.
Inheritance of achondroplasia.
Autosomal dominant
Most cases of achondroplasia are due to ____ mutations.
Spontaneous.
Most common form of disproportionate dwarfism.
Achondroplasia.
This type of bone formation is affected in achondroplasia.
Endochondral.
Frontal bossing, button nose, small nasal bridge, trident hands.
Achondroplasia.
Most likely issue to cause disability in achondroplasia.
Lumbar stenosis.
Spondyloepiphyseal dysplasia must be differentiated from this.
Multiple epiphyseal dysplasia.
Distinguishing features of spondyloepiphyseal dysplasia and multiple epiphyseal dysplasia is this.
Spine involvement.
Femoral involvement in multiple epiphyseal dysplasia may be confused with this.
Perthes disease.
Most common mucopolysaccharidosis.
Morquio syndrome.
Mucopolysaccharidosis characterized by keratan sulfate urinary excretion.
Morquio syndrome.
C1-2 instability in Morquio syndrome caused by this.
Odontoid hypoplasia.
Morquio syndrome inheritance.
Autosomal recessive.
Cause of diastrophic dysplasia.
Deficiency in sulfate transporter protein.
Characteristic spinal deformity of diastrophic dysplasia.
Cervical kyphosis.
Defect in transcription factor for osteocalcin causes this.
Cleidocranial dysplasia.
Most seriously spinal manifestation of Down syndrome.
Atlantoaxial instability.
45 XO genotype.
Turner syndrome.
Female, short stature, webbed neck, lack of sexual development.
Turner syndrome.
This anesthetic complication is associated with Turner syndrome.
Malignant hyperthermia.
Floppy, hypotonic infant who grows up to be an intellectually impaired, obese adult with an insatiable appetite.
Prader-Willi Syndrome
Orthopaedic manifestations of Beckwith-Wiedemann Syndrome (2).
- Hemihypertrophy
2. Spastic cerebral palsy
Predisposition to ____ tumor with Beckwith-Wiedemann syndrome.
Wilms
Decreased amount of Factor VIII.
Hemophilia A.
Abnormal factor VIII.
von Willebrand disease.
Decreased amount of Factor IX.
Hemophilia B.
The most common malignancy of childhood.
Leukemia.
The most common form of childhood leukemia.
Acute lymphocytic leukemia.
Helps differentiate homocystinuria from Marfan syndrome.
Marfan – superior lens dislocation
Homocystinuria – inferior lens dislocation
Opthalmic diagnosis in juvenile idiopathic arthritis.
Iridocyclitis.
Three types of birth-related brachial plexus palsies.
- Erb-Duchenne
- Total plexus
- Klumpke
Markers of poor prognosis for birth-related brachial plexus palsies (2).
- Lack of biceps function at 6 months
2. Presence of Horner syndrome
Commonly encountered pediatric “packaging defects” (3).
- Hip dysplasia
- Metatarsus adductus
- Congenital muscular torticollis
Passive stretching of congenital muscular torticollis.
Rotate infant’s chin to ipsilateral shoulder while tilting the head toward contralateral shoulder.
Treatment of congenital torticollis if persists past 1 year.
Z-plasty of sternocleidomastoid muscle.
Periventricular leukomalacia.
Cerebral palsy.
In cerebra palsy, constant succession of slow, writhing, involuntary movements.
Athetosis.
Persistence of two or more primitive reflexes suggests this.
That the child will not be able to ambulate.
Mechanism of action of botulinum toxin.
Presynaptic blockade at neuromuscular junction
Duration of botulinum toxin effects.
6 months.
The two major pediatric conditions associated with multiple joint contractures.
- Arthrogryposis
2. Larsen syndrome
Pediatric condition characterized by cutaneous flexor surface webs.
Multiple pterygium syndrome.
The myelodysplasia level is based on the _____ functional level.
lowest
Defect in vertebral arch with confined cord and meninges.
Spina bifida occulta.
Sac without neurla elements protruding through the defect.
Meningocele.
Sac with neural elements protruding through the skin.
Myelominigocele.
Ambulatory function of L1 myelomeningocele.
Nonfunctional.
Ambulatory function of L2 myelomeningocele.
Nonfunctional.
Ambulatory function of L3 myelomeningocele.
Household ambulator.
Ambulatory function of L4 myelomeningocele.
Household ambulator, some community.
Ambulatory function of L5 myelomeningocele.
Community ambulator.
Ambulatory function of S1 myelomeningocele.
Near normal.
Most common comorbid condition with spina bifida.
Type II Arnold-Chiari malformation.
Containment of hip dislocations in patients with myelodysplasia is essential in these patients.
Those with functioning quadriceps.
Rapid curve progression in myelomeningocele may be associated with these (3).
- Tethered cord
- Hydrocephalus
- Syringomyelia
In Duchenne muscular dystrophy, this lab value is markedly elevated.
Creatine phosphokinase
This protein is absent in Duchenne muscular dystrophy
Dystrophin.
This type of muscle weakness in Duchenne muscular dystrophy.
Proximal.
Inheritance pattern of Duchenne muscular dystrophy.
X-linked recessive.
Inheritance pattern of Becker muscular dystrophy.
X-linked recessive.
Inheritance pattern of facioscapulohumeral muscular dystrophy.
Autosomal dominant.
Inheritance pattern of limb-girdle muscular dystrophy.
Autosomal recessive.
Inheritance of Friedreich ataxia.
Autosomal recessive.