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Pediatrics General a9dacd2b

A child presents with antimongoloid slant, pulmonary stenosis, short stature and undescended testis. The likely diagnosis is –

A
Hypoparathyroidism
B
Noonan syndrome
C
Klinefelter syndrome
D
XYY sex chromosomes
High-Yield Explanation
Noonan Syndrome : - Autosomal dominant Male or female with turner phenotype Karyotype is normal Congenital heart disease (Supravalvular pulmonary stenosis)  Abnormalities of cardiac conduction and rhythum Downslanting palpebral fissure (Antimongoloid slant) Pectus carinatum or Pectus excavatum Hypertelorism Cryptorchidism (small testes) Sensorineural hearing loss Cardiac abnormality in Noonan's Syndrome Most common → pulmonary stenosis (Supravalvular) Hypertrophic cardiomyopathy Abnormalities of cardiac conduction and rhythum Short stature Webbed neck Low set ears Cubitus valgus Ptosis Micrognathia Clinodactyly Delayed puberty ASD Coarctation of Aorta (rare)

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