Congenital syndromes Flashcards
Epicanthic folds + abnormal palmar creases + protruding tongue + small ears
Down syndrome
Late menarche + small stature + neck webbing + widely spaced nipples
Turner syndrome
Features of Di-George syndrome (CATCH-22)
Cardiac anomalies Abnormal facies Thymic hypoplasia Cleft palate Hypocalcaemia/hypoparathyroidism
22nd chromosome (long arm deletion)
One week old baby sleepy + jaundiced + constipated + flattened nasal bridge
? Congenital hypothyroidism
How is PKU and congenital hypothyroidism diagnosed?
Heel-prick (Guthrie) test
How does cystic fibrosis usually present in childhood (without prenatal testing) (3)
15% present with meconium ileus
Malabsorption/growth delay
Recurrent respiratoy infections
Coarctation of the aorta may be a feature of what syndrome?
Turner syndrome
Pale + breathless + failure to thrive + frontal bossing of the skull
Beta thalassaemia
First test in suspected Duchenne muscular dystrophy?
Creatine phospokinase
Neonate with palpable flank masses + oliguria + respiratory distress
? autosomal recessive PKD
Why does AR PKD cause respiratory distress?
Causes oligohydramnios in utero; foetal lungs require amniotic fluid to develop properly
Deafness + blue sclera + recurrent fractures
osteoenesis imperfecta (type 1/tarda)
Similar features to Turner syndrome but in boys?
Noonan synrome
Infant with small eyes and polydactyly
Patau syndrome
Learning difficulties + macrocephaly
Fragile X syndrome
