Introduction To Child Development：儿童的发展介绍.ppt

LMCC REVIEW:PEDIATRICS PART IIAND DEVELOPMENT PEDIATRICS Asha Nair, MD, FRCPC Developmental Pediatrician CHEO/OCTC GENETICS General Major anomalies in 3% of nb (CHD, SB, CL) recurrence risk is 3-5% Minor anomalies in 15% (toes/fingers) Mechanisms of anomalies Malformations (defect of organ from abN dev’t process) Deformation(abN form,shape or position from mechanical forces Disruption ( defect from extrinsic breakdown or interference with an original developmental process) Dysmorphology (cont.) Patterns of malformation include syndrome, sequence and association SYNDROME: a pattern of anomaly due to a single/specific cause ie Marfan, Down, FAS SEQUENCE: an underlying anomaly giving rise to a cascade of secondary problems ie Pierre Robin ASSOCIATION: nonrandom combination of anomalies that occur together more frequently than expected by chance ie VACTERL Teratogens Drugs: Thalidomide – phocomelia DES - vaginal adenocarcinoma Tetracycline - staining of teeth/bone Retinoic acid - brain/ear/heart Testosterone – virilization Alcohol: FAS Congenital infections (TORCH, varicella, parvovirus) Metabolic conditions (maternal diabetes, PKU) Patterns of Inheritance Autosomal dominant Autosomal recessive X-Linked recessive Multifactorial Chromosomal Abnormalities Aneuploidy/ Polyploidy: indicates an extra or missing chromosome Trisomies or monosomies Abnormalities of Chromosome structure Deletions Translocations Inversions Duplications Sex Chromosome Anomalies Down Syndrome Inheritance nondysjunction (Trisomy) ; 95% translocation (14/21 or 21/21) = 4 % mosaics = 1 % Down Syndrome Hypotonia Low IQ (most are mild- moderate MR) Flat occiput Microcephaly Epicanthal folds Brushfields spots Simian crease Freq. OM/sinusitis/ NLD obstruction ( mid-face hypoplasia) Congenital heart disease (50%)AA instability Obstructive sleep apnea Hypothyroid Hearing loss Increased risk ALL early Alzheimers Turner’s Syndrome Incidence 1/2500 45 XO (55%) mosaicism (25%) Clinical fe