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Conditions
Down Syndrome – Trisomy 21• Chromosome 21 codes for collage V1• Clinically
• MSK• Joint Laxity• C1/2 instability – flexion/extension views • Scoliosis (bracing for <30 surgery for 50-
60) & spondylolisthesis • Extra skeletal
• Flat nasal bridege and epicanthic eye folds
• heart defects 50% • Endocrine disorders – risk of SUFE
Turner Syndrome • 45 XO genotype
Conditions
Down Syndrome – Trisomy 21• Chromosome 21 codes for collage V1• Clinically
• MSK• Joint Laxity• C1/2 instability – flexion/extension views • Scoliosis (bracing for <30 surgery for 50-
60) & spondylolisthesis • Extra skeletal
• Flat nasal bridege and epicanthic eye folds
• heart defects 50% • Endocrine disorders – risk of SUFE
Turner Syndrome • 45 XO genotype• Differentiate from noonan
syndrome • normal gonadal development • more severe scoliosis
Conditions
Prader-Willi Syndrome• Partial Chromosome 15 deletion
(from father)• Hypotonic infant • Obese adult – gross appetite• Growth and mental retardation• Hypoplastic genitalia
Menkes Syndrome• Sex linked recessive disorder of
copper transport • Kinky hair• Skull shoes wormian bones• Metaphyseal spurring • Anterior rib flaring / fracture
Conditions
Rett Syndorme • Deletion of x linked gene encoding
MECP2 protein• Affects girls aged 6-18 months• Clinically
• Scoliosis c shaped unresponsive to bracing
• Progressive abnormal hand movements
• Loss of developmental milestones• Spasticity and joint contractures
Beckwith-Wiedemann Syndrome• From infantile hypoglycaemic
episodes• Clinically • Hemihypertrophy• Spastic cerebral pasly • Predisposition to wilms tumour of
kidney• Organomegaly and large tongue