Chromosomal & Teratologic Disorders

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