Aiims Nov 2006 - Pediatrics - 11 Questions

Stereotypic behavior, associated with mental retardation but some children may excel in some specialities.

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Rocker Bottom Feet in Trisomy 18

Pleiotropism refers to a single gene defect that can cause multiple unrelated problems or symptoms in an individual. This means that the mutation in one gene can have effects on different organs or systems in the body, leading to a variety of symptoms or disorders. Pleiotropism is commonly observed in genetic disorders where a mutation in a single gene can affect multiple aspects of an individual's health or development.

Rate of increase of height and weight is the best indicator for nutritional status in a child because it reflects the child's overall growth and development. A steady and appropriate rate of increase in height and weight indicates that the child is receiving adequate nutrition and is developing normally. On the other hand, a slow or stagnant rate of growth may suggest malnutrition or underlying health issues. Therefore, monitoring the rate of increase of height and weight is crucial in assessing a child's nutritional status.

Non-shivering Thermogenesis - Thermogenin, physiological uncoupler

Weight for age is a common indicator used to assess both acute and chronic malnutrition. It measures a child's weight in relation to their age and helps to identify if a child is underweight or malnourished. This indicator is useful in identifying both acute malnutrition, which is characterized by a rapid decline in weight, as well as chronic malnutrition, which is characterized by long-term inadequate nutrition leading to stunted growth. Therefore, weight for age is a relevant and important measure in assessing malnutrition in children.

The most likely diagnosis for a newborn with congestive heart failure, bulging anterior fontanelle, bruit on auscultation, and findings of a hypoechoic midline mass with dilated lateral ventricles on transfontanellar ultrasound is a Vein of Galen malformation. Vein of Galen malformation is a rare congenital abnormality where there is an abnormal connection between the arteries and veins in the brain, leading to high-flow arteriovenous shunting. This can result in heart failure and hydrocephalus, which explains the clinical findings in this newborn.

The constant in the SCHWARTZ formula for calculating creatinine clearance in a child depends on factors such as mass, method of estimation of creatinine, and age. However, the severity of renal failure does not affect the constant in this formula.

Factor XIII deficiency is a rare inherited bleeding disorder characterized by a deficiency or dysfunction of Factor XIII, a clotting factor involved in stabilizing blood clots. This deficiency results in impaired clot formation and increased bleeding. The profuse bleeding from the umbilical stump in the newborn baby suggests a potential diagnosis of Factor XIII deficiency, as this condition can present with bleeding from the umbilical cord stump shortly after birth.

A child with an IQ of 50 is considered to have a moderate intellectual disability. This means that their cognitive abilities are significantly below average. While they may struggle with tasks that require higher cognitive skills such as reading a sentence or copying a triangle, they should still be able to identify colors as it is a simpler task that does not require complex cognitive processing. Therefore, the child should be able to identify colors.