Peds 29 Flashcards
What are 6 common features of newborns with Down syndrome?
- Epicanthal folds
- Flattened midface
- Hypotonia
- Redundant skin on the back of the neck
- Small ears
- Upslanting palpebral fissures
Daniel is a four-day-old small for gestational age male born at term after uncomplicated pregnancy to a 29-year-old mother who did not have prenatal genetic testing. He is hypotonic and has physical exam features characteristic for Trisomy 21 without evidence for heart murmur. He is breastfeeding well and without vomiting.
What’s the most appropriate genetic diagnostic test to order at this time?
Lymphocyte karyotype
What 5 conditions are known to occur with increased frequency in children with Down syndrome and may need medical attention in the immediate newborn period?
- Congenital cataracts
- Congenital hearing loss
- Congenital heart disease
- Gastrointestinal atresia
- Hip dysplasia
What newborn screening test is most likely to be abnormal in an infant with Down syndrome?
Hypothyroidism
Which are 2 prenatal diagnostic testing for Down syndrome?
Amniocentesis and chromosome analysis of amniotic fluid cells
Chorionic villus sampling (CVS) and chromosome analysis of CVS tissue
Which condition is the most common familial etiology of intellectual disability?
Fragile X syndrome
Which of the following sex chromosome abnormalities is most likely associated with physical differences at birth? Choose the single best answer.
A. 47, XYY
B. Klinefelter syndrome (47, XXY)
C. Triple X (47, XXX)
D. Turner syndrome (45, XO)
D. Turner syndrome (45, XO)
Which 3 syndromes are caused by a trisomy?
Patau syndrome - trisomy 13 (puberty)
Edwards syndeome - trisomy 18 (election)
Down syndrome - trisomy 21 (drink)
A 4-year-old boy with Down syndrome is brought by his mother to the office for increasing fatigue, intermittent fever, and decreasing appetite for three weeks. He is previously healthy. Physical examination reveals pallor and hepatosplenomegaly. What is the best next step in the management of this child?
A. Advise the mother to use acetaminophen as needed for fever
B. Send CBC and peripheral smear
C. Send patient for chest x-ray
D. Send TSH
E. Start the patient on a 7-day course of amoxicillin
B. Send CBC and peripheral smear
After delivery, an infant experiences fetal distress. After a vaginal delivery with vacuum assist, the infant cries spontaneously but remains acrocyanotic, despite supplemental oxygen delivered by mask. The neonate is hypotonic and moves his extremities only in response to noxious stimuli. Physical exam reveals an open mouth with a protruding tongue, upslanting palpebral fissures, low-set ears, and a single palmar crease on both hands. What is the most common cardiac defect in the patient’s suspected syndrome?
A. Aortic insufficiency B. Coarctation of the aorta C. Conduction pathway defects D. Endocardial cushion defects E. Patent ductus arteriosus
D. Endocardial cushion defects
This patient has physical signs of Down syndrome. Approximately 50% of children with Down syndrome are born with endocardial cushion defects, such as ventricular septal defect, atrial septal defect, or complete atrioventricular canal defect.
A 1-day-old infant is being evaluated in the newborn nursery. The infant was born via NSVD at 40 weeks’ gestation to a 38-year-old G1P1 mother who did not have access to prenatal care and did not receive prenatal testing. The infant weighed 7 lbs 12 oz at birth and had Apgar scores of 7 and 8. On exam the infant is sleeping comfortably. She is afebrile with normal vital signs but appears to have low tone on exam. You also notice her ears seem to be lower than her eyes and appreciate mild edema of the hands and feet. Additionally, you note a fluid-filled sac at the base of the neck that does not appear to interfere with breathing. A karyotype performed after birth reveals a chromosomal abnormality. Which of the following is the most likely cause of this infant’s condition?
A. Benign neonatal hypotonia B. Cystic hygroma C. Down syndrome D. Fetal alcohol syndrome E. Turner syndrome
E. Turner syndrome
Turner syndrome is defined by the karyotype 45 XO. Characteristics of females with Turner syndrome include renal abnormalities, lymphedema (causing edema of hands and feet), low-set ears, congenital heart defects, dental abnormalities-such as narrow or high-arched palates-and cystic hygromas. Other possible physical findings include a webbed neck, widely-spaced nipples, and shield-like chest.
A 39-year-old woman who is 22 weeks pregnant comes to the clinic for information on prenatal genetic counseling. Family history is significant for a 10-year-old boy with intellectual disability. A photograph of her son reveals large ears and long face but no other congenital malformations. The mother is worried that she will have a second child with similar problems. Her prenatal serum screening and fetal ultrasound were both normal. If she were to have a second male child with developmental impairment, what would be the most likely etiology?
A. Down syndrome B. Fragile X syndrome C. Klinefelter syndrome D. Trisomy 13 E. Turner syndrome
B. Fragile X syndrome
Fragile X syndrome is the most common familial etiology of intellectual disability and is due to an abnormal number of trinucleotide repeats. Children with Fragile X syndrome present with large ears, long face and mandible and, after puberty, large testicles.
A 4-day-old infant is evaluated in the nursery for dysmorphic features. He was born at 40 weeks gestation by vaginal delivery to a 35-year-old G1P1 mother. Pregnancy was uncomplicated and mother declined prenatal screening. Vital signs and pulse oximetry are normal. Physical examination reveals mild hypotonia, epicanthal folds, upslanting palpebral fissures and a flat midface. Chromosomal studies are pending. Which of the following chromosomal abnormalities is most likely in this patient?
A. 45 X0 karyotype B. 47 XXY karyotype C. Trisomy 13 D. Trisomy 18 E. Trisomy 21
E. Trisomy 21
You are examining a female newborn and note the following: webbed neck, low ear placement, edema of hands and feet, hyperconvex nails, and a “shield” chest with widely spaced nipples.
What is your leading differential? What associated condition might you want to work the child up for?
Turner syndrome (45, XO karyotype) - only affects females
Coarctation of the aorta - found in about 20% of affected patients
You are seeing a male young adult (21 years old) in your clinic for the last time in your clinic before he transitions to an adult provider. You note in his chart that previous clinic encounters had noted a low to normal IQ range and gynecomastia in adolescence. Today, he complains of testicular atrophy, but his physical exam is otherwise normal.
What is your leading differential?
Klinefelter syndrome (47, XXY karyotype) - only affects males
