TRISOMY 21- DOWN SYNDROME.ppt

Counseling May begin when a prenatal diagnosis is made. Discuss the wide range of variability in manifestation and prognosis. Medical and educational treatments and interventions should be discussed. Initial referrals for early intervention, informative publications, parent groups, and advocacy groups. TRISOMY 21- DOWN SYNDROME Dr. Gupta PL-II Incidence Approximately one in 1000 live births. Genetics Trisomy 21 (47, +21), - 94 %, The frequency of trisomy increases with increasing maternal age. Robertsonian translocation involving chromosome 21- Approx. 3-4 %, not related to maternal age. Trisomy 21 mosaicism – 2 to 3 % cases Clinical Features Head and neck Brachycephaly Up-slanting palpebral fissures Epicanthal folds Brushfield spots Flat nasal bridge Folded or dysplastic ears Open mouth Protruding tongue Short neck Excessive skin at the nape of neck Extremities Short broad hands Short fifth finger Incurved fifth finger Transverse palmer crease Space between first and second toe Hyper flexibility of joints Neonatal features Flat facial profile Poor Moro reflex Excessive skin at the nape of neck Slanted palpebral fissures Hypotonia Hyper flexibility of joints Dysplasia of pelvis Anomalous ears Dysplasia of midphalanx of fifth finger Transverse palmer crease Mental Retardation Almost all DS babies have MR. Mildly to moderately retarded . Starts in the first year of life. Average age of sitting(11 mon), and walking (26 mon) is twice the typical age. First words at 18 months. IQ declines through the first 10 years of age, reaching a plateau in adolescence that continues into adulthood. Heart Disease 50 % of Down Syndrome pts have heart disease Atrioventricular septal defect VSD Secundum ASD PDA Tetrology of Fallot Mitral valve prolapse AR, MR GI abnormalities 5% of cases Duodenal atresia or stenosis, sometimes assoc with annular pancreas in 2.5 % of cases Imperforate anus Esophageal atresia with TE fistula is less common Hirschsprung’s disease Strong assoc with c