PATHOLOGY
Congenital
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-?-
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| 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"?
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 |
| VSD ASD PDA | |
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.
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.
| -?-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 | |
| -?-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.
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.
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.