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Name 7 common congenital malformations:
h____ d____ -?-heart defects (congenital rubella)
h____ -?-hypospadias
c____ l____ with or without c____ p____ -?-cleft lip with or without cleft palate
c____ h____ d____ -?-congenital hip dislocation
s____ b____ -?-spina bifida
a____ -?-anencephaly
p____ s____; p____ v____ -?-pyloric stenosis; projectile vomiting
What are the three T's of congenital heart disease leading to right to left shunts (early cynanosis) & "blue babies"?
  1. -?-Tetralogy of Fallot (most common)
  2. -?-Transposition of great vessels
  3. -?-Truncus arteriosus
Match re causes of left to right shunts (late cyanois) and "blue kids":
-?-PDA Close with indomethacin
-?-VSD Most common congenital cardiac anomaly
-?-ASD Loud S1; wide, fixed split S2
Eisenmenger's syndrome: Uncorrected VSD, ADS or PDA leads to progressive -?-pulmonary hypertension; as pulmonary resistance ↑, the shunt changes from L→R to R→L, which causes late -?-cyanosis (clubbing & polycythemia).
Patent ductus arteriosus:
In fetal period, shunt is normal; in neonatal period, lung resistance ↓ and shunt becomes left to right with subsequent -?-RVH and failure; associated with a continuous, "-?-machine-like" murmur; patency is maintained by -?-PGE synthesis and low O2 tension.
Matching - autosomal trisomies:
-?-Patau's syndrome Severe mental retardation, microphthalmia, microcephaly, cleft lip/palate, abnormal forebrain structures, polydactyly, congenital heart disease; death usually occurs within 1 yr of birth
-?-Edwards syndrome Severe mental retardation, rocker bottom feet, low-set ears, micrognathia, congenital heart disease, clenched hands, prominent occiput; death usually occurs within 1 yr of birth
-?-Down syndrome Mental retardation, flat facial profile, prominent epicanthal folds, simian crease, duodenal atresia, congenital heart disease, Alzheimer's disease in affected individuals > 35 yrs old, ↑ risk of ALL; 95% of cases due to meiotic nondisjunction of homologous chromosomes; associated with advanced maternal age
Down syndrome Edwards syndrome Patau's syndrome
Matching - genetic gender disorders:
-?-Turners syndrome Short stature, ovarian dysgenesis, webbing of neck, coarctation of the aorta
-?-Double Y males Phenotypically normal, very tall, severe acne, antisocial behavior
-?-Klinefelters syndrome Testicular atrophy, eunuchoid body shape, tall, long extremities, gynecomastia, female hair distribution
Klinefelter's syndrome Turner's syndrome Double Y males
Muscular dystrophies:
Duchenne's (X-linked) is a frame-shift mutation ↓ deletion of -?-dystrophn gene ↓ accelerated muscle breakdown; onset before -?-5 yrs of age; -?-Becker's has mutated dystrophin gene which is less severe than Duchenne's.
Gender identity is based on external genitalia and -?-sex of upbringing.
True hermaphrodite (46,XX or 47,XXY) has both ovary & testicular tissue present but -?-ambiguous genitalia.
Testicular feminization syndrome (46,XY) is caused by a defect in the -?-DHT receptor. It results in a normal-appearing female but with: -?-rudimentary vagina; uterine tubes & uterus generally -?-absent; high levels of testosterone, estrogen and -?-LH.
-?-Cri du chat is a congenital deletion of short arm of chromosome 5 (46,XX or XY, 5p-); Name 5 findings for this disease.
  1. -?-microcephaly
  2. -?-severe mental retardation
  3. -?-high-pitched crying/mewing
  4. -?-epicanthal folds
  5. -?-cardiac abnormalities
Fragile X syndrome affects the methylation & expression of the -?-FMRI gene. It is the -?-2nd most common cause of genetic retardation. The first is -?-Down's syndrome.
Cystic fibrosis is an autosomal-recessive defect in CFTR gene on chromosome -?-7.
-?-familia hypercholesterolemia (type IIA) Occurs after puberty; progresses to colon cancer unless restricted; deletion on chromosome 5
-?-Neurofibromatosis type 1 Recklinghausen's disease
-?-achondroplasia Results in dwarfism; short limbs, but head & trunk are normal size
-?-adult polycystic kidney disease Always bilateral; berry aneurysms; 90% of cases due to mutation in APKD1 (chromosome 16)
-?-Marfan's syndrome Connective tissue disorders; skeletal abnormalities including tall with long extremities and hyperextensive joints
-?-hereditary spherocytosis Spheroid erythrocytes; hemolytic anemia; increased MCHC
-?-Von Hippel-Lindau disease Associated with with deletion of tumor suppressor on chromosome 3
-?-familia hypercholesterolemia (type IIA) Severe atherosclerotic disease in early life, and tendon xanthomas
-?-Huntington's disease Symptoms manifest between ages of 20 and 50; gene located on chromosome 4; findings include choreiform movements
-?-Neurofibromatosis type 2 Bilateral acoustic neuroma; chromosome 22
adult polycystic kidney disease familia hypercholesterolemia (type IIA) Marfan's syndrome Neurofibromatosis type 1 Neurofibromatosis type 2 Von Hippel-Lindau disease Huntington's disease familia adenomatous polyposis hereditary spherocytosis achondroplasia
During pregnancy, the greatest danger of fetal alcohol syndrome for the fetus is between -?-3-8 weeks.
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