A child presents with anti-mongoloid slant, pulmonary stenosis, sho stature and undescended testis. The most likely diagnosis is:
Noonan syndrome - Autosomal dominant gene with variable expressivity, the gene has mapped to chromosome 12q. Most common abnormalities are - sho stature, webbing of neck, pectus carinatum or pectus excavatum, cubitus valgus, right sided congenital hea disease *Hypeelorism, epicanthus, downward slanted palpebral fissure, ptosis, micrognathia and ear abnormality *Clinodactyly, moderate mental retardation, high frequency sensorineural hearing loss is common *The cardiac defect Q is most often pulmonary valvular stenosis, hyperophic cardiomyopathy or ASD *Low clotting factors XI or XII, ALL and CML have been described *A few patient with neurofibromatosis I and features of Noonan syndrome were subsequently repoed as havinq Turner syndrome, Male frequently have Cryptorchidism and small testes, they may be hypogonadal or normal.
Klinefelter syndrome
Noonan syndrome
Turner syndrome
Down syndrome