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Peds Genetics
Pediatrics
Question | Answer |
---|---|
MR, hypertonia, tremors, light complexion/hair, eczema, mousy urine = | PKU |
PKU dx is confirmed by: | Hyperphenylalanemia in presence of normal / decreased plasma tyrosine |
Meconium ileus at birth, FTT, respiratory infections, steatorrhea = | Cystic fibrosis |
CF mgmt | Airway clearance therapy, inhaled mucolytics (recombinant DNAse), antipseudomonal Abx, pancreatic enzyme & vitamin ADEK supplementation |
MR (IQ 20-80), brachycephaly, dysplastic pinnae, upslanting palpebral fissures, hypotonia = | Down syndrome (trisomy 21) |
Trisomy 18 clinical features | Hypertonicity. Dysmorphic facies (prominent occiput, micrognathia, cleft palate). ASD & PDA. Rocker bottom feet, clinodactyly. |
Trisomy 13 prognosis | Usually associated with abnormalities incompatible with life. Infants often succumb to PNA or CHF in first 1-2 years. |
Trisomy 13 clinical features | Microcephaly. Omphalocele. PKD. Radial bone aplasia. Polydactyly. |
Trianglular facies, coarctation of aorta, webbed neck, peripheral edema = | Turner syndrome (XO monosomy; 1:10,000 female live births) |
Males with micro-orchidism, gynecomastia, azoospermia = | Klinefelter (XXY). 1:1,000 live male births. |
Behavioral abnormalities, prolonged ears & jaw with oblong face, macro-orchidism = | Fragile X syndrome (mutation of FMR1 gene) |
Vit D def / Rickets: genetics | X-linked dominant |
Hemophilia A, Duchennes MD: genetics | X-linked Recessive |
Neurofibromatosis: genetics | Autosomal dominant |
Sickle cell, CF, PKU: genetics | Autosomal Recessive |