Most common cardio vascular abnormality in down syndrome is ?
Ans. is 'b' i.e., Endocardial cushion defect About 40% of down syndrome have CHD. Endocardial cusion Atrio ventricular septal defect account for 40-60% of cases. Other feature in down syndrome. Hypotonia, flat face, upward and slanted palpebral fissures and epicanthic folds, speckled irises (Brushfield spot);varying degrees of mental and growth retardation;dysplasia of the pelvis, cardiac malformations, and simian crease;sho, broad hands, hypoplasia of middle phalanx of 5th finger, duodenal atresia, and high arched palate;5% of patients with Down syndrome are the result of a translocation-t(14q21q), t(15q21q), and t(13q21q)-in which the phenotype is the same as trisomy 21. Other feature ? Duodenal atresia Annular pancreas Tracheoesophageal fistula Hirschsprung disease Sho stature Sho sternum Brachycephaly Delayed fontanel closure Three fontanels Frontal sinus hypoplasia Peripheral joint laxity Atlantoaxial instability (C1-C2 subluxation) Exaggerated space between Mottled skin in infancy Dry coarse skin in adolescence 1st and 2nd toes Increased Risk for Development of - Leukemia:AML, ALL Myelodysplasia Transient lymphoproliferative syndrome Celiac disease Hypothyroidism Diabetes mellitus Obesity Refractive errors Strabismus Mitral valve prolapse Conductive and/or Obstructive sleep apnea Epilepsy sensorineural hearing loss ADHD Alzheimer disease Conduct oppositional disorders
VSD
Endocardial cushion defect
TOF
COA