Science Quiz / Pediatrics COMAT

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Can you name the Pediatrics COMAT?

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Age ____: 8 words
Age ____: Lifts head or chest when prone
_____ disease: Caused by a deficiency of glucocerebrosidase. Cells have a characteristic 'crinkled paper' appearance.
_____ syndrome: Presents with severe mental retardation, microphthalmia, microcephaly, cleft lip, holoprosencephaly, polydactyly, and omphalocele.
_____ disease: Caused by a deficiency of alpha galactosidase. The first sign is severe neuropathic limb pain.
______ is the most common congenital heart condition presenting with cyanosis within the first 24 hours of birth.
Name a noncyanotic heart defect
_____: has a fixed, widely split S2
_____ syndrome: CATCH22- Cardiac abnormalities, abnormal facies, thymic aplasia, cleft palate, hypocalcemia, 22q11 deletion
Coarctation is a cause of secondary _______ in children.
_____ syndrome: 47, XXY- Presents with testicular atrophy, tall stature, long extremities, gynecomastia, and female hair distribution.
_____ syndrome: Presents with severe mental retardation, rocker-bottom feet, low-set ears, micrognathia, clenched hands, and a prominent occiput. Trisomy 18
______: Drug used to close a Patent Ductus Arteriosus
Age ____: Skips, walks backward for long distances, copies a triangle, uses 5-word sentences
_____ disease: A deficiency of sphingomyelinase. May present with cherry red spot and hepatosplenomegaly.
Age ____: Rides tricycle. Copies a circle. Uses 3-word sentences.
_____ disease: An absence of hexosaminidase that leads to GM2 ganglioside accumulation. Presents with cherry-red spot but no hepatosplenomegaly
_____: Most common cause of congenital heart disease.
______ syndrome: 45, XO- Features include short stature, shield chest, webbed neck, coarctation of the aorta.
Name a cyanotic heart defect
_____ stenosis: Nonbilious emesis typically begins around 3 weeks of age and progresses to projectile emesis after most or all feedings. Examination may reveal a palpable olive-sha
Age ____: Sits unassisted, babbles
In most cases of intussusception, an air contrast ____ enema is both diagnostic and therapeutic.
Age ____: 5 words
The most common GI emergency in neonates. Most frequently seen in premature infants, but can occur in full-term infants as well.
Xx
Coarctation of the aorta is associated with ______ syndrome.
_____ syndrome: A deficiency of iduronate sulfatase. A mild form of Hurler's syndrome with no corneal clouding and mild mental retardation. X-linked recessive.
_______ conditions - 'pink babies' - have left to right shunts in which oxygenated blood from the lungs is shunted back into the pulmonary circulation
The definitive diagnosis of Hirschsprung's disease requires a ______ biopsy.
_________ is the most common cyanotic heart disease of childhood.
_____ disease: Absence of galactosylceramide and galactoside, leading to accumulation of galactocerebroside in the brain
Infants with FTT will fall first off the weight curve, then the height curve, and finally the _____ curve
_____ isolated on a vaginal culture is definitive evidence of sexual abuse.
Pneumatosis intestinalis on plain films is pathognomonic for _______ in neonates.
Age ____: 1 word, 1 step command
The most common cause of bowl obstruction in the first 2 years of life. Usually seen between 3 months and 3 years of age. Abdominal pain, vomiting, and bloody mucus in stool 'curra
In ______ syndrome, left to right shunt leads to pulmonary hypertension and shunt reversal
Signs of _____ include no babbling or gesturing by 12 months, no single words by 16 months, no 2-word phrases by 24 months, failure to make eye contact, and other signs of deficits
Age ____: 3-word phrases
_____ syndrome: A deficiency of alpha-L-iduronidase. Leads to corneal clouding, mental retardation, and gargoylism.
Age ____: 2-word phrases, 2-step commands
Age ____: Hops, copies a cross. Exhibits cooperative play
_______ conditions' 'blue babies' - have right to left shunts in which deoxygenated blood is shunted into the systemic circulation
_____: Examination reveals a continuous 'machinery murmur' at the second left intercostal space at the sternal border, a loud S2, wide pulse pressure, and bounding peripheral pulse
Almost all cases of meconium ileus are due to _____
_____: A deficiency of arylsulfatase A that leads to accumulation of sulfatide in the brain, kidney, liver, and peripheral nerves.
Age ____: Walks up and down steps, 2-word phrases
Age ____: Walks alone. Uses 1-3 words
Age ____: Crawls, pulls to stand
Age ____: Rolls front to back, laughs and squeals

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