Question
Noonan syndrome is characterized by all except?
A. Shield chest
B. Short stature
C. Involve gene is PTPN
D. Increased carrying angle of elbow
E. HOCM
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Correct Answer » A Explanation |
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Ans. A
Noonan syndrome is an autosomal dominant disorder which affects both females and males.
Important features are short stature, webbed neck, low set ears, cubitus valgus (increased carrying angle of elbow), ptosis, micrognathia, Hypertelorism, down-slanting palpebral fissure (antimongoloid slant), clinodactyty, cryptorchidism, i.e. Undescended small testis, pectus carinatum or pectus excavatum, sensorineural hearing loss, congenital heart diseases(supravalvular pulmonary stenosis : most common , ASD, hypertrophic cardiomyopathy, and defect in conduction/rhythm), and delayed puberty : Testosterone levels are often low.