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Down Syndrome: Zahra Ali
Down Syndrome: Zahra Ali
Zahra Ali
Clinical Features
Neck fold
Brachycephaly
Limbs:
Sandal
Short 5th digit & Clinodactyly
Joint Hyperflexibility
Heart:
Atrial Septal Defect
Blood:
Risk of ALL(acute lymphocytic leukemia)
Risk of AML(acute myelogenous leukemia)
Transient Leukemia
GI:
Annular Pancreas
Duodenal Atresia
Imperforate Anus
Endocrine:
Thyroid disease:
Hypothyroid >hyperthyroid
Diabetes-Risk 3 times more
Infertility-Male 100% infertile
Female do become pregnant
Obesity
Short stature (DS growth chart)
Skin:
Cutis Marmorata
Fissured Tongue
Neurology:
Hypotonia
Developmental Delay
Diagnosis
Prenatal Diagnosis
Screening Test(15-20th Wk gestation)
Triple test =beta hCG+
alpha fetoprotein,estriol + (UltraSound)
Diagnostic Test
Amniocentesis(12-20th WK)
Chorionic Villus Sampling(>20wk)
Nuchal Translucency
Post-natal Diagnosis:
Phenotype at birth: (if missed ante-natal)
Face,hypotonia,deudenal atresia ect ect
Confirm by:
Karyotype
FISH
Medical Management