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25q11 mutation. bilateral dislocation/subluxation of lens, dissecting aorta, valve defects, aneurysm
Marfan
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Deficiency in lysyl hydroxylase --> decr hydroxylation of lysyl residues in collagen I & III. Autosomal recessive. Poor wound healing, hypermobile joints, ocular fragility
Ehler's danlos
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Deficient synthesis of type III collagen: weakness in bowel wall and blood vessels. Autosomal dominant. Mutations in COL3A1 gene. Poor wound healing, hypermobile joints, ocular fragility
Ehlers danlos
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Autosomal dominant dz are normally...
Structural proteins & involving metabolic pathways (hypercholestemia)
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Hypercholesterolemia most common type
Type II: receptor synthesized but its transport from ER to Golgi is impaired
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PKU (autosomal recessive) symptoms & cause
Decr skin & hair pigmentation, musty odor, mental retardation. Deficiency in phenylalanine hydroxylase.
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deficiency of acid sphingomyelinase --> accumulation of sphingomyelin
Niemann Pick dz
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mutations in gene that encodes glucosylceramidase. Accumulation of glucosylceramide (byproduct of RBC breakdown). Bone involvement, hepatosplenomegaly, may or may not have CNS involvement, autosomal recessive
gaucher dz
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Epicanthic fold, flat facial profile, mental retardation. Semian crease.
Down's syndrome trisomy 21.
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Chromosome 22q11.2 deletion dz
DiGeorge & Velocardiofacial
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Defect in FMR1 gene.
Fragile X
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Fragile X premutation
50-200 CGG repeats
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Coaractation of aorta (bicuspid aortic valve defect) most commonly associated w/
Turner's syndrome
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mental retardation. long face, large mandible, large everted ears, large testicles. Hypermethylation that leads to silencing of gene involved.
Fragile X
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Mitochondrial mutations. progressive bilateral loss of central vision that leads to blindness
Leber hereditary optic neuropathy
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15q11-13 or 15q12
Prader willi & angelman dz.
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mental retardation, short stature, hypotonia, obesity, small hands & feet, hypogonadism, prominent nasal bridge, almond shaped eyes w/ down turned lips, light skin & hair, soft skin
Prader-willi (15q11-13)
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tumor of sympathetic ganglia & adrenal medulla. pseudorosettes (no cavity surrounded by tumor cells). Spontaneous regression
Neuroblastoma.
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Deletions or mutation of the q14 band of chromosome 13 or sporadic. No red reflex (cat's eye reflex). Rosettes. Spontaneous regression.
Retinoblastoma
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most common primary tumor of kidney in children. Mutations at 11p13. p53 mutations. WAGR syndrome.
Wilm's tumor
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WAGR syndrome
11p13. Wilm's tumor, aniridia, genital abnormalities, mental retardation
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Beckwith-Wiedemann syndrome :enlargemt of body organs or entire body segments (hemihypertrophy); enlargemt of adrenal cortical cells
associated w/ Wilm's tumor, 11p13
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Adult brain tumors tend to be supra-tentorium, Pediatric brain tumors tend to be infra-tentorium. most common malignant brain tumor in children
Meduloblastoma
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increased intracranial pressure. child becomes listless, w/ vomiting & morning headache. stumbling gait, frequent falls, diplopia, papilledema, & 6th cranial nerve palsy. Positional dizziness and nystagmus are also frequent
Meduloblastoma
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Tumor in brain, rarely in spinal cord. Most common glioma.
Astrocytoma
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5p deletion syndrome.
Cri du chat
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low birth weight, microcephaly, cat like cry, micrognathia/retrognathia, short hands & feet, simian crease, mentalretardation,
spastic quadriparesis, small external genitalia. two eyes should be one eye-width apart. If it is more than that, it is hypertelorism
Cri du chat
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Low birth weight and growth retardation. Microcephaly and mental retardation. Congenital heart disease. Craniofacial dysmorphy
13q deletion
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Not all premutations are predisposed to expand. Usually from maternal transmission (esp in juvenile form). Paternal premutations usually shorten
during transmission
Fragile X
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Juvenile form associated with paternal transmission. Symptomatic w/ over 40 repeats.
Huntington's CAG repeats
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Dominant-negative effect = gene product (protein) that can interfere with the function of the normal gene product in heterozygotes. Blue sclera
Osteogenesis imperfecta.
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Vitamin B2 deficiency leads to
cracks & sores in mouth/lips, purple tongue, cheilosis, corneal revascularization
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Potato blight ingestion during pregnancy may lead to
neural tube defect
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Pickwickian Syndrome
marked obesity, eventual right-sided heart failure, hypersomnolence, apnea
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autosomal recessive defect in transport protein responsible for hepatocellular excretion of bilirubin glucoronides.
Dubin Johnson. Black liver. High in conjugated bilirubin.
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Physiologic jaundice
- It begins in the face (bilirubin of 5 mg/dl)
- Progresses to the mid-abdomen (15 mg/dl)
- And then to the feet (20 mg/dl)
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Kernicterus: bilirubin levels of trigger
- total bilirubin of 20 mg/dl
- indirect bilirubin 18 mg/dl
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Ranking in cardiac malformations
- VSD = 25-30%
- ASD
- Pulmonary stenosis
- PDA
- Tetralogy of Fallot
- Coartaction of aorta
- AV septal defect
- Aortic stenosis
- TGA
- Truncus arteriosus
- Total anomalous pulmonary venous connection
- Tricuspid atresia
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Prevalence in Iranian & Mococan jews. Black liver
Dubin Johnson
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Reye syndrome
Giving aspirin to babies for Varicella (chickenpox) --> fatty liver damage & encephaloathy. No jaundice. General loss of mitochondrial fxn.
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ASD associated w/
Paradoxical embolism= Stroke from a DVT
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Defects in which pulmonary vascular disease causes R to L shunt of blood. Initially caused by L to R shunt. Pulmonary vascular markings on X ray, thickening of pulmonary artery, pulmonary hypertension, cardiomegaly
Eisenmenger syndrome
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R to L shunt due to a large VSD
Eisenmenger complex
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Machine like murmur. large defects eventually leads to Eisenmenger syndrome w/ cyanosis & CHF. Pulmonary hypertension, R heart hypertrophy & dilation, atherosclerosis of pulmonary arteries
PDA
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Cardiac defect associated w/ trisomy 13 & 18
VSD
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Congenital rubella can lead to
PDA, peripheral pulmonic stenosis, mitral regurgitation (in infancy)
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Eisenmenger complex can be caused by
all cyanotic tardive dz (L to R shunts)
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Tetralogy of Fallot includes
VSD, obstruction to right ventricular outflow, aorta that overrides VSD, R ventricular hypertrophy
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clubbing of fingertips are associated w/
lung dz & long standing cyanosis
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Boot-shaped heart, proximal aorta larger than normal, diminished pulmonary trunk. May be accompanied by PDA & ASD (beneficial cuz they permit pulmonary blood flow)
Tetralogy of Fallot
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Endocardial fibroelastosis (usually L ventricle) can be associated w/
congenital aortic stenosis, coarctation of aorta, hypoplastic left ventricle
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Downward displacement of tricuspid valve into an underdeveloped right ventricle
Ebstein malformation
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Need PDA & PFO to retain life
TGA & Hypoplastic L heart
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Abnormality in septation of truncus arteriosus. Associated with maternal diabetes
TGA
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R ventricle & pulmonary artery hypertrophied & dilated --> hypotension (weak femoral pulses, BP of lower extremities lower than of upper extremities)
Preductal coarctation of aorta
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L ventricle hypertrophied --> hypertension, claudication and coldness of lower extremities
Post ductal coarctation of aorta
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most common form of congenital aortic stenosis
bicuspid aortic valve
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Why hypertension in upper extremities of those w/ coarctation of aorta?
hypertension in upper extremities due to hypoperfusion of kidneys --> renin secretion --> hypertension
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