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