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Peds Genetics


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
Created by: Abarnard