All of the following may occur in Noonan’s syndrome except:
Correct Answer: Infeility in females
Description: Answer is C (Infeility in females) : Females usually show normal sexual maturation but it is delayed 2 years on an average. Males frequently have cryptorchidism and small testes. They may be hypogonadal or normal. Pubey is delayed 2 yr on average Term 'Noonan Syndrome' has been applied to males and. females who have some phenotypic features that resamble females with turner's syndrome (45 X, 0), but themselves have apparently normal sex chromosomes (46XX or 45 XY). These boys and girls have normal Karyotopee Inheritance is autosomal dominants (gene on chromosome 12q) Clinical features Q: Sho stature, webbed neck, pectus carinatum / excavatum Hypeelorism, epicanthus, dominant slanted palpebral fissures, ptosis, micrognathia and ear abnormalities. Clinodactyly, hernias, veebral anomalies are less common Mental retardation occurs in 25% of patients High frequency sensorineural hearing loss is common Cardiac Defects : Pulmonary stenosis, Hyperophic Cardiomyopathy, ASD Hepatosplenomegaly and hematological diseases including Leukemia occur
Category:
Pediatrics
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