Chapter·AnatomyPharyngeal arches

Clinical correlations of pharyngeal developmentDownloads

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1

A 4-year-old girl is brought by her mother to the pediatrician for neck drainage. The mother reports that the child has always had a small pinpoint opening on the front of her neck, though the opening has never been symptomatic. The child developed a minor cold approximately 10 days ago which resolved after a week. However, over the past 2 days, the mother has noticed clear thick drainage from the opening on the child’s neck. The child is otherwise healthy. She had an uncomplicated birth and is currently in the 45th and 40th percentiles for height and weight, respectively. On examination, there is a small opening along the skin at the anterior border of the right sternocleidomastoid at the junction of the middle and lower thirds of the neck. There is some slight clear thick discharge from the opening. Palpation around the opening elicits a cough from the child. This patient’s condition is caused by tissue that also forms which of the following?

AEpithelial tonsillar lining

BThymus gland

CEpithelial lining of the Eustachian tube

DSuperior parathyroid glands

EInferior parathyroid glands

2

A 2720-g (6-lb) female newborn is delivered at term to a 39-year-old woman, gravida 3, para 2. Examination in the delivery room shows micrognathia, prominent occiput with flattened nasal bridge, and pointy low-set ears. The eyes are upward slanting with small palpebral fissures. The fists are clenched with fingers tightly flexed. The index finger overlaps the third finger and the fifth finger overlaps the fourth. A 3/6 holosystolic murmur is heard at the lower left sternal border. The nipples are widely spaced and the feet have prominent heels and convex, rounded soles. Which of the following is the most likely cause of these findings?

ADeletion of Chromosome 5p

BTrisomy 13

CFetal alcohol syndrome

DTrisomy 18

ETrisomy 21

3

A child is born by routine delivery and quickly develops respiratory distress. He is noted to have epicanthal folds, low-set ears that are pressed against his head, widely set eyes, a broad, flat nose, clubbed feet, and a receding chin. The mother had one prenatal visit, at which time the routine ultrasound revealed an amniotic fluid index of 3 cm. What is the most likely underlying cause of this patient's condition?

AUnilateral renal agenesis

BAn extra 18th chromosome

CAutosomal recessive polycystic kidney disease (ARPKD)

DA microdeletion in chromosome 22

EBilateral renal agenesis

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