Item: 1 of 7 ~ 1 • M k -<:J 1>- Jil ~· !

:';-~
QIO: 3414 ..L ar Pre v ious Next Lab~lues Not es Calcula t o r

•1 •
A pediatrician is called in to evaluate an infant who has not been able to feed at all since birth. His mother reports that every time she tries to
.2 breastfeed him, the infant chokes and coughs. The mother denies any use of alcohol or drugs during pregnancy. She also denies any history of
sexually transmitted diseases. She says that her pregnancy and delivery were uneventful but remembers the obstetrician being concerned about
•3 excess amniotic fluid seen on her ultrasound.
·4
•5 Which of the following is most likely to be seen on t he infant's x-ray of the chest?

:
A. Air in the stomach

B. Herniation of the stomach, spleen, and intestines

c. Lung hypoplasia

o. Pleural effusion

E. Widened mediastinum

a
Lock
s
Suspend
8
End Bl ock
Item: 1 of 7 ~ 1 • M k -<:J 1>- Jil ~· !:';-~
QIO: 3414 ..L ar Prev ious Next Lab~lues Not es Calculat o r

1 Th e co rrect a nsw er i s A. 620/o ch ose this. •

.2 This Infant is manifesting signs of the most common type of tracheoesophageal fistula (TEF): a TEF with
esophageal atresia . This is the specific type seen in > 85% of cases. In these Infants, there is an abnormal
•3 division of the respiratory and esophageal tracts in the fourth week of gestation. This leads to the upper
esophagus ending in a blind pouch and the lower portion of the esophagus emptying into the distal portion
·4 of the trachea. In utero, this abnormality prevents the infant from swallowing amniotic fluid, which results
In polyhydramnios for the mother, and which is seen as excess amniotic fluid on ultrasound. Once the child
•5 Is born, the atres1a prevents swallowing, causing spillage of formula into the trachea (with resultant
choking and aspiration) from the blind -ended esophagus. The TEF also causes air to fill the stomach when
the infant breathes. A large stomach air bubble would therefore be expected on th1s infant's chest
radiograph, like that shown in the im age.
TEFs may be isolated but are also frequently assodated with VACTERL defects (Vertebral anomalies, A nal
atresia, Ca rdiac defects, Tracheo-Esophagea l fistula, Renal/ gu anomalies, and limb defects).
Polyhydramnios Tracheoesophageal fistula Esophageal atresia Esophagus Trachea Chest radiograph Amniotic fluid
Radiography Fistula Medical ultrasound Ultrasound Atresia In utero VACTERL association
Anatomical terms of location Gestation

Image copyright © !mad Ef Biache et at

B i s n ot correct. 9 % ch ose this.

Congenital diaphragmatic hernia is a condition in which the diaphragm does not fuse with the thoracic and peritoneal walls. As a result, visceral organs
enter the thoracic cavity and inhibit lung development. This is a cause of polyhydramnios, but it generally manifests with respiratory distress rather than
feeding difficulty.

a
Lock
s
Suspend
8
End Bl ock
Item: 1 of 7 ~. I • M k <:] t> al ~· ~
.l.
QIO: 3414

1
ar Previous Next lab 'Vfl1ues Notes Calculator
. .._. -.._~

I mage copyright © ! mad El Biache et at

.2
B is no t co rrect. 9 % cho se this.
•3
Congenital diaphragmatic hernia is a condition in which the diaphra gm does not fuse with the thoracic and peritoneal walls. As a result, visceral organs
.4 enter the thoracic cavity and inhibit lung development. This is a cause of polyhydramnios, but it generally manifests with respira tory distress rather than
feeding difficulty.
•5 Polyhydramnios Congenital diaphragmatic hernia Thoracic cavity Diaphragmatic hernia Thoracic diaphragm Congenital disorder Peritoneum Hernia Dyspnea Thorax
Respiratory distress lung

c is no t co rrect. 1 7 % cho se this.

Lung hypoplasia typically manifests after birth with respiratory distress. It is most often associat ed with congenital diaphra gmantic hernia and
polyhydramnios, although it may also be associat ed with Potter sequence and oligohydramnios.
Polyhydramnios Oligohydramnios Potter sequence Respiratory distress Hypoplasia Congenital disorder lung Hernia

D is no t co rrect. 5 % cho se this.

A pleural effusion is not one of the hallmarks of a t ra cheoesophageal fistula with esophageal atresia. However; these fistulas do predispose infants to
aspiration pneumonia, and a pleura l effusion may then accompany this complication .
Pleural effusion Tracheoesophageal fistula Esophageal atresia Aspiration pneumonia Pneumonia Fistula Pleural cavity Arteriovenous fistula Atresia

Esophageal cancer

E is no t co rrect. 7 % cho se this.

One would expect to see a widened mediastinum in the presence of an aortic aneurysm, aortic dissection, mediastinal mass, or hilar lymphadenopathy.
None of these conditions would result in polyhydramnios or affect feeding after birth.
Aortic dissection Mediastinum lymphadenopathy Mediastinal tumor Aortic aneurysm Aneurysm Hilar lymphadenopathy

Botto m Li ne:
Tra cheoesophageal fistula with esophageal atresia manifests with choking, coughing, and an air bubble in the stomach on x-ray.
Tracheoesophageal fistula Esophageal atresia Fistula Atresia X-ray Stomach Esophageal cancer

6
lock
s
Suspend
0
End Block
Item: 1 of 7 ~. I • M k <:] t> al ~· ~
QIO: 3414 .l. ar Previous Next lab 'Vfl1ues Notes Calculator

1
.2
Bottom Line:
•3
Tracheoesophageal fistula with esophageal atresia manifests with choking, coughing, and an air bubble in the stomach on x-ray.
.4 Tracheoesophageal fistula Esophageal atresia Fistula Atresia X-ray Stomach Esophageal cancer

•5

I ill ;fi 1!1 I•J for year:[ 2017 ..

FIRST AID FAC T S

FA17 p 344.3

Tracheoesophageal Esophageal atresia (EA) with distal tracheoesophageal fi stula (TEl') is the most common (85%).
anomalies Polyhydramnios in utero. eonates drool, choke, and vomit with first feeding. TEF allows air to
zo
enter stomach (visible on CXR). Cyanosis is to laryngospasm (to avoid reflux-related aspiration).
Cli nical test: fa ilure to pass nasogastric tube into stomach.
In 11-type, the fistula resembles the letter I I. In pure EA the CXR shows gas less abdomen.
Esophagus Tracheoesophageal
fistula

Esophageal
atresia

6
lock
s
Suspend
0
End Block
Item: 2 of 7 ~ 1 • M k -<:J 1>- Jil ~· !:';-~
QIO: 260 3 ..L ar Pre v ious Next Lab~lues Notes Calcula t o r

1 •
A previously healthy 1-year-old boy presents to the emergency department with fatigue and rectal bleeding. Apart from hematochezia, he has a
.2 normal physical exam. The image below shows the gross intestinal pathology from a patient with a similar condition.

•3

·4
•5

I mage courtesy of the Armed Forces Institute of Pathology

This pathologic structure is usually found protruding from tissues derived from which source?

A. Dorsal mesentery

B. Foregut

c. Hindaut

a
Lock
s
Suspend
8
End Bl ock
 Image courtesy of the Armed Forces Institute of Pathology

This pathologic structure is usually found protruding from tissues derived from which source?

:
A. Dorsal mesentery

B. Foregut

c. Hindgut

D. Mesonephric duct

E. Midgut

F. Neural crest cells

a
Lock
s
Suspend
8
End Block
Item: 2 of 7 ~ 1 • M k -<:J 1>- Jil ~· !:';-~
QIO: 260 3 ..L ar Prev ious Next Lab~lues Notes Calculat o r

1 •
Th e co rrect an swer i s E. 590/o chose this.
2 The vignette image shows a Meckel diverticulum, the result of the incomplete obliteration of the omphalomesenteric (vitelline) duct. This manifests as a
blind pouch that protrudes from the ileum. The ileum is derived from the midgut, a portion of the primitive gut tube that gives rise to the Intestinal tract
•3 from the distal duodenum to the proximal two-t hirds of the transverse colon. Meckel diverticulum is characterized by t he " r u le o f 2's": it is 2 Inches long,
·4 2 feet from the ileocecal valve, occurs in 2% of the population, manifests In first 2 years of life. Meckel diverticulum may contain ectopic tissues such as
gastric and pancreatic epithelium, which are derived from foregut. Occasionally, add secreted from the gastric mucosa in a Meckel diverticulum may cause
•5 local ulceration and bleeding.
Mec .e 's dovertoculum Duodenum Ileocecal valve Transverse colon Ileum Pane eas Gust11c mucosa Diverticulum Foregut Gastrointestinal tract Midgut
Colon an romy Human gastrointestinal tract Peptic ulcer Mucous membrane Epithehum Anatomical terms of location Proximal

A is not correct. 5% chose this.

The dorsal mesentery gives rise to, among other things, the spleen. Meckel diverticulum, however, arises from the midgut.
Mec e s divertoculum Mesentery Spleen Dorsal mesentery Midgut Diverticulum Anatomica terms of location

B is not correct. 10 % chose this.

The foregut gives rise to the gastrointestinal tract from the esophagus through the upper duodenum, as well as the liver, gallbladder, and pancreas. These
structures are proximal to the region that would be affected by a Meckel diverticulum.
Meckel's diverticulum Human gastrointestinal tract Duodenum Esophagus Gallbladder Foregut Pancreas Gastrointestinal tract Liver Diverticulum
Anatomical terms of location

C is not co rrect. 140/o chose t his.

The hindgut gives rise to the gastrointestinal tract from the distal third of the transverse colon to the upper anal cana l. This is distal to the region where a
Meckel diverticulum would appea r.
Meckel's diverticulum Human gastrointestinal tract Transverse colon Anal canal Gastrointestinal tract Hindgut Colon (anatomy) Diverticulum
Anatomical terms of location

D i s n ot co rrect. aoto ch ose this.

The mesonephric (Wolffian) duct gives rise to m ale internal reproductive organs: seminal vesicles, epididymis, ej aculatory duct, and ductus deferens. It Is
not related to Meckel diverticulum.
Meckel's diverticulum Epididymis Ejaculatory duct Vas deferens Seminal vesicle Diverticulum Vesicle (biology and chemistry) Mesonephric duct

F i s not correct. 4 0/o chose t his.

Neural crest cells Qive rise to many structures in t he body, includinQ the Intestinal QanQiia affected in HirschsprunQ disease. However, this imaQe shows a

a
Lock
s
Suspend
8
End Block
Item: 2 of 7 ~. I • M k <:] t> al ~· ~
QIO: 2603 .l. ar Previous Next lab 'Vfl1 ues Notes Calculator

1 F is not correct. 4% chose this.

Neural crest cells give rise to m any structures in the body, including the intestinal ganglia affected in Hirschsprung disease. However; this image shows a
2
Meckel diverticulum, a midgut m alformation that does not arise directly from neural crest cells.
•3 Meckel' s diverticulum Hirschsprung' s disease Neural crest Midgut Ganglion Diverticulum

.4
•5 Bottom Line:
Meckel diverticulum, the most common congenital anomaly of the gastrointestinal tract, is a blind pouch protruding from the ileum. It is derived from
the midgut.
Meckel' s diverticulum Human gastrointestinal tract Ileum Gastrointestinal tract Midgut Congenital disorder Diverticulum

lijj ;fi IJ l•l for year:l 2017 ..

FIRST AID FAC T S

FA11 p 367.2

Meckel diverticulum True diverticulum. Persistence of the vitelline The rule of 2's:
duct. May contain ectopic acid- secreting 2 times as likely in males.
gastric mucosa and/or pancreatic tissue. Most 2 inches long.
common congenital anomaly of GJ tract. Can 2 feet from the ileocecal valve.
cause hematochezia/melena (less commonly), 2% of population .
Umbilicus RLQ pain, intussusception, volvulus, or Commonly presents in first 2 years of life.
obstruction near terminal ileum. Contrast with May have 2 types of epithelia (gastric/
omphalomesenteric cyst= cystic dilation of pancreatic).
vitelline duct.
Diagnosis: pertechnetatc study for uptake by

6
lock
s
Suspend
0
End Block
Item: 2 of 7 ~ 1 • M k -<:J 1>- Jil ~· !:';-~
QIO: 260 3 ..L ar Pre v ious Next Lab~lues Notes Calcula t o r
- - I
1 deverteculum •
Diagnosis: pertechnetatc study for uptake by
2
ectopic gastric mucosa.
•3

·4
•5 FA17 p 585.1

Umbilical cord Umbilical arteries (2)-return deo>-ygenated
blood from fetal internal iliac arteries to
placenta rJ.
Umbilical ,-ein (I)-supplies O\}'gcnated blood
from placenta to fetus; drains into IVC via
li\·er or via ductus venosus.
Single umbilical artery (2-\·essel cord) is
associated "ilh congenital and chromosomal
anomalies.
Umbilical arteries and ,-ein are dcri\'ed from
allantois.

Umbilical artery Umbilical artery

\
Umbilical
arteries Allantoic duct
I Umbilical
Umbilical ..------- vein
Allantoic ducts vein
Amniotic eprthelium
Cord lining membrane
_ wharton
1 jelly

Urachus In the 3rd week the yolk sac forms the allantois," hich extends into urogenital sinus. Allantois
•• ' I • r . 1 1 1 1 1 1 ., •

a
Lock
s
Suspend
8
End Bl ock
Item: 3 of 7 ~ 1 • M k -<:J 1>- Jil ~· !:';-~
QIO: 3311 ..L ar Pre v ious Next Lab~lues Notes Calcula t o r

1 •
A 1-year-old child is brought to the emergency department by his concerned parents, who discovered bright-red blood in the child's diaper. The
2 pathologic lesion shown in the image was identified by a technetium scan and later excised.

•3

·4
•5

Which two types of ectopic tissue are commonly present on this specimen?

a
Lock
s
Suspend
8
End Bl ock
Which two types of ectopic tissue are commonly present on this specimen?

:
A. Adrenal and gastric

B. Gastric and pancreatic

c. Gastric and thyroid

D. Pancreatic and adrenal

E. Thyroid and adrenal

F. Thyroid and pancreatic

a
Lock
s
Suspend
8
End Block
Item: 3 of 7 ~ 1 • M k -<:J 1>- Jil ~· !:';-~
QIO: 3311 ..L ar Prev ious Next Lab~lues Notes Calculat o r

1 •
Th e co rrect an sw er i s B. 750/o chose this.
2 The Image shows a Meckel's diverticulum, a common anomaly of the small bowel caused by the persistence of the vitelline duct. Complications can Include
Intussusception, volvulus, obstruction, or bleeding caused by the release of acid or digestive enzymes from ectopic gastric or pancreatic tissue. Meckel's
3 diverticula can be remembered by the "rule o f 2s": they are 2 inches long, 2 feet from the ileocecal valve, found in 2% of the population, commonly
present In the first 2 years of life, and may have 2 types of ectopic epithelia.
·4
Mecke 's divertoculum v;te ine duct Ileocecal valve Intussusception (medica diso der} Diverticulum Volvulus Small intestine Epithelium Ectopic expression
•5 Ectopic p egnancy Digestive enzyme Ectopia (medicine} Gastrointestinal tract

A i s not correct. 7 % chose this.

Meckel's diverticula are associated with ectopic gastric tissue , but not adrenal tissue. Ectopic adrenal fod are assodated w ith adrenal adenomas and
hyperaldosteronism.
Diverticulum Hyperaldosteronism Adrenal gland

C i s not correct. 7 % chose this.

Meckel's diverticula are associated with ectopic gastric tissue, but not thyroid tissue. Ectopic thyroid t issue can be found in thyroglossal duct cysts In the
neck.
Thyroglossal cyst Thyroglossal duct Thyroid dysgenesis Thyroid Diverticulum Cyst Ectopia (medicine}

0 is not co rrect. 5 0/o chose t his.

Meckel's diverticula are associated with ectopic pancreatic tissue, but not adrenal tissue .
Diverticulum Ectopic pregnancy Ectopic expression Ectopia (medicine} Adrenal gland

E is not co rrect . 30fo chose this.

Meckel's diverticula are not associat ed with ectopic thyroid or adrenal tissue .
Diverticulum Thyroid Ectopic pregnancy Ectopic expression Ectopia (medicine} Thyroid dysgenesis

F is not co rrect . 30fo ch ose this.

Meckel's diverticula are associated with ectopic pancreatic tissue, but not thyroid t issue.
Diverticulum Thyroid Ectopic pregnancy Ectopic expression Ectopia (medicine}

Bottom Line:

a
Lock
s
Suspend
8
End Block
Item: 3 of 7 ~. I • M k <:] t> al ~· ~
QIO: 3311 .l. ar Previous Next Lab 'Vfll ues Notes Calculator

1 Meckel's diverticula are not associated with ectopic thyroid or adrenal tissue .
Diverticulum Thyroid Ectopic pregnancy Ectopic expression Ectopia (medicine) Thyroid dysgenesis
2
F is no t co rrect. 3% chose this.
3
Meckel's diverticula are associated with ectopic pancreatic tissue, but not thyroid tissue .
.4 Diverticulum Thyroid Ectopic pregnancy Ectopic expression Ectopia (medicine)

•5

Bo tto m Line:
Meckel's diverticula often contain gastric and pancreatic tissue .
Diverticulum

lijl;fiiJI•l toryear:[2017 • ]
FI RST AID FAC T S

FA11 p 367.2

Meckel diverticulum
True diverticulum. Persistence of the vitelline The rule of 2's:
duct. May contain ectopic acid- secreting 2 times as likely in males.
gastric mucosa and/or pancreatic tissue. Most 2 inches long.
common congenital anomaly of GJ tract Can 2 feet from the ileocecal valve.
cause hematochezia/melena (less commonly), 2% of population .
RLQ pain, intussusception, volvulus, or Commonly presents in first 2 years of life.
obstruction near terminal ileum. Contrast with l\llay have 2 types of epithelia (gastric/
omphalomesenteric cyst= cystic dilation of pancreatic).
vitelline duct.

6
lock
s
Suspend
0
End Block
Item: 4 of 7 ~ 1 • M k -<:J 1>- Jil ~· !:';-~
QIO: 290 2 ..L ar Pre v ious Next Lab~lues Notes Calcula t o r

1 •
A full-term neonate with a flat face, prominent epicanthal fold, and a single transverse palmar crease presents to the pediatrician because of failure
2 to pass meconium. Rectal examination is notable for a tight anal sphincter with an empty rectum . The image is a plain radiograph of the abdomen
and Indicates distention of a portion of the distal colon slightly proximal to the rectum .
3
.4
•5

a
Lock
s
Suspend
8
End Bl ock
 Image courtesy of Dr. Frank Gaillard

Which of the following is the cause of this infant's condition?

:
A . Failure of neural crest cell migration during gestation

B. Failure of recanalization of small bowel

c. Imperforate anus

D. Meconium plug obstructing bowel

E. Persistence of the vitelline duct with ectopic acid-secreting gastric mucosa

a
Lock
s
Suspend
8
End Block
Item: 4 of 7 ~ 1 • M k -<:J 1>- Jil ~· !:';-~
QIO: 290 2 ..L ar Pre v ious Next Lab~lues Notes Calcula t o r

1 •

2 Th e co rrect a nsw er i s A . 730/o ch ose this.

3 This patient has the classic features of Down syndrome. His inability to pass meconium as well as the
finding of an empty rectum is consistent with Hirschsprung disease, or congenital megacolon. This disorder
4 Is caused by failure of neural crest cell migration into the bowel wa ll during embryogenesis and is
•5 characterized by the absence of ganglion cells in the large bowel, typically In the rectum and the adjacent
segment of the distal colon that is immediat ely proximal to the rectum. This leads to functional obstruction

I
and colonic dilation proximal to the affected segment. In this case, the dilation of the colon slightly
proximal to the rectum suggests agang lionosis of the rectum and a proximal region of the colon. The risk
of Hirschsprung disease is increased in infants w ith Down syndrome. Duodenal atresia is also associated
with Down syndrome but is characteri zed by a "double bubble" sign on abdominal plain film (seen in this
Image), the result of air bubbles in the stomach and in the superior portion of the duodenum proximal to
the atretic region. Dig1tal rectal exam can in some patients trigger explosive evacuation of feces, but this is
not necessarily the case in a neonate who does not have much to pass.
Down syndrome Hirschsprung's disease Duodenum Duodenal atresia Meconium Neural crest Embryogenesis
Rectum Megacolon Large intestine Rectal examination Infant Colon (anatomy) Human embryogenesis
Congenital disorder Ganglion cell Feces Ganglion Atresia Radiography Gastrointestinal tract Retinal ganglion cell
Anatomical terms of location Stomach

B i s n ot co rrect. 120/o ch ose this.

Failure of recanalization of the small bowel results in duodenal atresia. Although patients with Down syndrome are at greater risk of having duodenal
atresia, It presents with early bilious vomiting and proximal stomach distention. On radiography, there is a characteristic "double bubble" sign, the result
of air bubbles in the stomach and in the superior portion of the duodenum proxima l to the atretic region. I t does not present with constipation.
Down syndrome Duodenum Duodenal atresia Constipation Small intestine Radiog1 aphy At esia Vomiting Stomach Gastrointestinal tract

a
Lock
s
Suspend
8
End Bl ock
 2
B is not co rrect. 12% chose this .
3 Failure of recanalization of the small bowel results in duodenal atresia. Although patients with Down syndrome are at grea t er risk of having duodenal
4 atresia, it presents with early bilious vomiting and proximal stomach distention. On ra diography, there is a characteristic "double bubble" sign, the result
of air bubbles in the stomach and in the superior portion of the duodenum proximal to the atretic region. It does not present with constipation .
•5 Down syndrome Duodenum Duodenal atresia Constipation Small intestine Radiography Atresia Vomiting Stomach Gastrointestinal tract

c is not co rrect. 6 % chose this .

A neonat e with imperforat e anus will present with the inability to pass meconium during the first 24 hours of life; however; a thorough physical exam
should have revealed the imperforat e anus. The condition is associat ed with cardiovascular malformations, gastrointestinal malformations (including
Hirschsprung disea se), vertebral anomalies, and urologic anomalies.
Imperforate anus Hirschsprung's disease Meconium Anus Infant Physical examination Human gastrointestinal tract Circulatory system Gastrointestinal tract

D is not co rrect. 6 % chose this .

In meconium ileus, a plug of meconium blocks the intestine. Although this would prevent stool passage at birth, it does not present on radiograph with
colonic distention. Meconium ileus is most often associat ed with cystic fibrosis, not Down syndrome.
Down syndrome Cystic fibrosis Meconium ileus Ileus Meconium Radiography Gastrointestinal tract Fibrosis large intestine Feces

E is not co rrect. 3 % chose this .

Persistence of the vitelline duct results in Meckel's diverticulum, which is the most common congenital anomaly of the gastrointestinal tract. It may
contain ectopic acid-secreting gastric mucosa and frequently presents with gastrointestinal bleeding from peptic ulceration . Meckel's diverticulum does not
result in failure to pass meconium .
Meckel's diverticulum Vitelline duct Meconium Gastric mucosa Diverticulum Human gastrointestinal tract Gastrointestinal bleeding Peptic ulcer
Gastrointestinal tract Congenital disorder Mucous membrane Ectopic pregnancy

Botto m Line:
In a newborn who fails to pass meconium within the first 24 hours of life, Hirschsprung disea se should be considered in the differential.
Hirschsprung's disease Meconium

6
lock
s
Suspend
0
End Block
Item: 4 of 7 ~. I • M k <:] t> al ~· ~
QIO: 2902 .l. ar Previous Next lab 'Vfl1 ues Notes Calculator

2 Bottom Line:
3 In a newborn who fails to pass meconium within the first 24 hours of life, Hirschsprung disease should be considered in the differential.
Hirschsprung' s disease Meconium
4

•5

lijj ;fi IJ l•l for year:l 2017 ..

FIRST AID FACTS

FA17 p 367.3

Hirschsprung disease Congenital megacolon characterized by lack Risk t with Down syndrome.
Nerve plexus\
of gang! ion cells/enteric nervous plexuses Explosive expulsion of feces (squirt sign)
(Auerbach and Meissner plexuses) in distal -+ empty rectum on digital exam.

segment of colon. Due to fa ilure of neural crest Diagnosed by absence of ganglionic cells on
Enlarged- - cell migration. Associated with mutations in rectal suction biopsy.
colon
RET. Treatment: resection.
No nerves
Presents with bilious emesis, abdominal
Collapsed _/ distention, and failure to pass meconium
rectum within 48 hours -+ chronic constipation.
lormaI portion of the colon proximaI to the
aganglionic segment is dilated, resulting in a
"transition zone."

FA17p369.1

6
lock
s
Suspend
0
End Block
 3
4 FA17 p 59.1
Autosomal trisomies
•5
Down syndrome Findings: intellectual disabilit~, flat facies,
(trisomy 21) prominent epicanthal folds, single palmar
crease, gap between 1st 2 toes, duodena1
atresia, Hirschsprung disease, congenital heart
disease (eg, atrio,·entricular septal defect),
Brush field spots. Associated with early-onset
Alzheimer disease (chromosome 21 codes for
amyloid precursor protein) and t risk of ALL
and A~ fL.
95% of cases due to meiotic nondisjunction
(t with advanced mate rnal age; from 1:1 500 in
women < 20 to 1:25 in women > 45 yea rs old).
Incidence 1:700.
D rinking age (21).
lost common ,·iable chromosomal disorder and
most common cause of genetic intellectual
disabilitr
First-trimester ultrasound commonly shows
t nuchal translucency and hrpoplastic nasal
bone; l serum PAPP-A, t free ~-hCC.
Second-trimester quad screen shows
l a -fetoprotein, t ~-hCG, l estriol,
t inhibin A.

I
4% of cases due to unbalanced Ro be rtson ian
translocation, most typica lly between
chromosomes 14 and 21. 1% of cases due
to mosaicism (no association with maternal
nondisjunction; postfertilization mitotic error).
Edwards syndrome Findings: PRI!\CE Edward-P rominent Incidence 1:8000.
(trisomy 18) occiput, Rocker-bottom feet, I ntellectua I l<.lect ion age (I S).

a
Lock
s
Suspend
8
End Block
Item: 5 of 7 ~ 1 • M k -<:J 1>- Jil ~· !:';-~
QIO: 350 7 ..L ar Pre v ious Next Lab~lues Not es Calcula t o r

1 •
Twenty-four hours after birth, a male neonate has not passed meconium. A chloride sweat test is ordered and found to be positive. The infant's
2 parents are counseled on his need for long-term follow-up and treatment.

3
Which of the following is the embryonic origin of another structure that Is often affected in this infant's condition?
4
•5 :
A. Mesonephric duct

B. Urogenital folds

c. Vitelline duct

D. Thyroglossal duct

E. Allantoic duct

a
Lock
s
Suspend
8
End Bl ock
Item: 5 of 7 ~ 1 • M k -<:J 1>- Jil ~· !:';-~
QIO: 350 7 ..L ar Prev ious Next Lab~lues Not es Calculat o r

1 Th e co rrect a nsw er i s A. 43% ch ose this. •

2 This boy has cystic fibrosis, as demonstrat ed by his failure to pass meconium (meconium
Ileus) and a positive chloride sweat test . The diagram illustrates the organs affected in
3 cystic fibrosis. At least 95% of males with cystic fibrosis are infertile as a result of the
Improper development of the mesonephric (Wolffian) duct system, which most often leads Sinus problems
4 to a defective vas deferens. The vas deferens, along with the epididymis, seminal vesicles,
and ejaculatory duct, is derived from the mesonephric duct. Additional abnormalities in
5
cystic fibrosis Include exocrine pancreas defidency, late onset puberty, chronic sinusitis, and Frequent lung
•6 chronic upper respiratory tract infections.
Cystic fib SIS Epididymis Meconoum ileus Meconium Ejaculatory duct Sinusitis vas defet eus
infections ---t~--F- =>.--- Salty sweat
.7
Mesonephric duct Sweat test Exocrine gland Seminal vesicle Pancreas Fibrosis Ileus Puberty Enlarged heart -',-----+- Trouble
Chloride Respiratory tract infection Respiratory tract Vesicle (biology and chemistry) Perspiration
breathing
Gallstones Abnormal
~~~,.~ft----:r- pancreas
Trouble ---+-:1-l.fiH~~ function
digesting
food
Fat in feces --!-+-+- --\1-;.P-'

B is not co rrect . 140/o ch ose this.

The urogenital folds develop into the labia minora of the female and the ventral shaft of the penis in the male. Hypospadias can occur when these folds
fall to close in the male. This however, is not a side effect of cystic fibrosis.
Cystic fibrosis Hypospadias Labia minora Development of the urinary system Human penis Anatomical terms of location Penis Genitourinary system Labia
Adverse effect Ventral

C i s not correct. 230/o ch ose t his.

The vitelline duct connects the embryo to the yolk sac and is normally obliterated by birth. However, in 2% of the population the duct persists and Is

a
Lock
s
Suspend
8
End Block
 2

3
B is no t co rrect. 14% cho se this.
4
The urogenital folds develop into the labia minora of the female and the ventral shaft of the penis in the male. Hypospadias can occur when these folds
5 fail to close in the male. This however; is not a side effect of cystic fibrosis.
Cystic fibrosis Hypospadias Labia minora Development of the urinary system Human penis Anatomical terms of location Penis Genitourinary system Labia
•6
Adverse effect Ventral
.7
c is no t co rrect. 23 % cho se this.
The vitelline duct connects the embryo to the yolk sac and is normally obliterat ed by birth. However; in 2% of the population the duct persists and is
called Meckel diverticulum . It can cause bleeding near the t erminal ileum, but it is asymptomatic in most cases.
Meckel' s diverticulum Vitelline duct Ileum Yolk sac Embryo Diverticulum Asymptomatic Yolk

D is no t co rrect. 9 % cho se this.

The thyroglossal duct connects the thyroid gland to the tongue during development. The foramen cecum is the remnant of the duct. This is not affected in
cystic fibrosis.
Thyroglossal duct Cecum Thyroid Cystic fibrosis Foramen cecum (tongue) Foramen cecum (frontal bone) Gland

E is no t co rrect. 11% cho se this.

The allantoic duct connects the kidneys to the allantois, a sa dike structure that collects nitrogenous wastes from the embryo. A pat ent allantois lea ds to a
urachal cyst in which urine drains directly from the bladder.
Urachal cyst Allantois Urinary bladder Embryo Cyst Kidney Urine

Botto m Li ne:
Cystic fibrosis is associat ed with infertility as a result of inadequat e mesonephric duct development.
Cystic fibrosis Mesonephric duct Infertility Fibrosis

6
Lock
s
Suspend
0
End Block
Item: 5 of 7 ~. I • M k <:] t> al ~· ~
QIO: 3507 .l. ar Previous Next lab 'Vfl1 ues Notes Calculator
-------------------------------------------------------

1
Bottom Line:
2 Cystic fibrosis is associat ed with infertility as a result of inadequat e mesonephric duct development.
Cystic fibrosis Mesonephric duct Infertility Fibrosis
3
4
5
•6
lijl;fiiJI•l foryear:[2017 • ]
F IRST A I D FA CTS

.7
FA17 p 56.3
Cystic fibrosis
GENETICS Autosomal recessive; defect in CFTR gene on chromosome 7; commonly a deletion of Phe508.
Most common lethal genetic disease in Caucasian population.
PATHOPHYSIOlOGY CFTR encodes an ATP-gated CJ- channel that secretes CJ- in lungs and Gl tract, and reabsorbs
CJ- in sweat glands. Most common mutation - misfolded protein - protein retained in RER
and not transported to cell membrane, causing ! CJ- (and H7 0 ) secretion; t intracellular CJ-
results in compensatory t Na+ reabsorption via epithelial Na+ channels - t II 20 reabsorption
- abnormally thick mucus secreted into lungs and Gl tract. t Na+ reabsorption also causes more
negative transepithelial potential difference.
DIAGNOSIS t CJ- concentration (> 60 mEq/L) in sweat is diagnostic. Can present with contraction alkalosis
and hypokalemia (ECF effects analogous to a patient taking a loop diuretic) because of ECF
H 20/Na+ losses and concomitant renal K+fH+ wasting. t immunoreactive trypsinogen (newborn
screening).
COMPliCATIONS Recurrent pulmonary infections (eg, S aureus [early infancy], P aeruginosa [adolescence]), chronic
hronr hitis :mel hron r hi t>r t:tsis - rt> tir 11lnnnrl111:tr n;~ tl·prn nn l.XR nm1rifir:~tinn nf sin rrsf's.

6
lock
s
Suspend
0
End Block
Item: 5 of 7 ~ 1 • M k -<:J 1>- Jil ~· !:';-~
QIO: 350 7 ..L ar Pre v ious Next Lab~lues Not es Calcula t o r

1 •
Infertil ity in men (absence of \'as deferens, spermatogenesis may be unaffected) and subfertility in
2 women (amenorrhea, abnormally thick cenical mucus).
3 Nasal polyps, clubbing of nails.
4 TREATMENT t\lultifactorial: chest physiotherapy, albuterol, aerosolized dornase aJfa (DNAse), and hypertonic
5 saline facilitate mucus clearance. zithromycin used as anti-inAammatory agent. Ibuprofen slows
disease progression. Pancreatic enzymes for insufficiency.
•6
.7
FA17 p 369.1
Other intestinal disorders
Acute mesenteric Critical blockage of intestinal blood no" (often embolic occlusion of St\IA) - small bo,,eJ
ischemia necrosis r.J - abdominal pain out of proportion to physical findings. t\lar see red ~currant jell(
stools.
Chronic mesenteric "Intestinal angina": atherosclerosis of celiac artery, SVI , or I lA - intestinal hypoperfusion
ischemia - postprandial epigastric pain - food a"crsion and weight loss.
Colonic ischemia Reduction in intestinal blood Aow causes ischemia. Crampy abdominal pain followed by
hcmatochezia. Commonly occurs at watershed areas {splen ic Aexurc, distal colon). Typically
affects elderly. T humbprint sign on imaging due to mucosal edema/hemorrhage.
Angiodysplasia Tortuous dilation of vessels [] - hematoehczia. Most oft en found in the right-sided colon. More
common in older patients. Confirmed by angiography.
Adhesion Fibrous band of scar tissue; commonly forms aft er surgery; most common cause of small bowel
obstruction . Can have \\ ell-demarcated necrotic zones.
Ileus Intestinal hypomotility without obstruction - constipation and l Aatus; distended/tympanic

a
Lock
s
Suspend
8
End Bl ock
Item: 6 of 7 ~ 1 • M k -<:J 1>- Jil ~· !:';-~
QIO: 2594 ..L ar Pre v ious Next Lab~lues Notes Calcula t o r

1 •
A 22-year-old woman presents to the hospital in labor. She has missed her last couple months of prenatal care visits. After several hours of labor, an
2 8-pound, 3-ounce (3.7 kg) girl is born. Shortly after birth, the newborn glrlls found to be unable to swallow. on attempts at feeding, she coughs,
chokes, and vomits. G tube placement is attempted, but a follow-up x-ray shows the tube coiled in the upper mediastinum and the newborn Is
3 promptly scheduled for a corrective surgical procedure.
4
5 Had this mother gone to her regular prenatal visits, which of the following findings might have been noted on prenatal ultra sound?

•6 :
A. Hematosalpinx
.7
B. Intracranial calcification

c. Microcephaly

o. Oligohydramnios

E. Polyhydramnios

a
Lock
s
Suspend
8
End Bl ock
 Item: 6 of 7 ~ 1 • M k -<:J 1>- Jil ~· !:';-~
QIO: 2594 ..L ar Previous Next Lab~lues Notes Calculat or

1 •

2 Th e correct a n sw er i s E. 780/o chose this.

3 A tracheoesophageal fistula (TEF, demonstrated in the image) is associated with esophageal atresia 95%
of the t ime. Polyhydramnios occurs in two-thirds of cases of TEF because associated esophageal atresia
4 prevents fetuses from swallowing amniotic fluid. The defect occurs when the lateral walls of the foregut fail
to fuse after separating from the trachea. Treatment is immediate surgical repa ir.
5
Polyhydram 10s Tracheoesophageal fistula Esophageal atresia Trachea Amniotic f uid Fo egut Atresia F.stula
6 Esophagus
0 7

Image copyright © I mad El Biache et a!.

A i s n ot correct. 3 0/o ch ose this.

Hematosalpinx refers to bleeding into the fallopian tubes most commonly caused by an ectopic pregnancy. It is not associated with tracheoesophageal
.C1-... . . . · - .. ~ .. .c .. .... ..

a
Lock
s
Suspend
8
End Block
Item: 6 of 7 ~. I • M k <:] t> al ~· ~
QIO: 2594 .l. ar Previous Next lab 'Vfl1 ues Notes Calculator

1
. '
Hematosalpinx refers to bleeding into the fallopian tubes most commonly caused by an ectopic pregnancy. It is not associat ed with t ra cheoesophageal
2 fistula in the fetus.
Hematosalpinx Ectopic pregnancy Tracheoesophageal fistula Fallopian tube Fistula Fetus Pregnancy
3
B is not correct. 2% chose this.
4
Intracra nial calcification is an ultrasonographic finding and a poor prognostic factor seen with congenital toxoplasmosis. The classic triad of congenital
5 toxoplasmosis includes chorioretinitis, hydrocephalus, and intracranial calcification . Periventricular calcifications are also associat ed with congenital
cytomegalovirus. They are not associat ed with tracheoesophageal fistulas.
6 Toxoplasmosis Hydrocephalus Cytomegalovirus Chorioretinitis Calcification Congenital disorder Prognosis Medical ultrasound
.7
c is not correct. 2% chose this.
Microcephaly is an ultrasonographic finding that can be seen with fet al cytomegalovirus infection . It is not associat ed with tracheoesophageal fistulas.
Cytomegalovirus Microcephaly Medical ultrasound Arteriovenous fistula

D is not correct. 15% chose this.

Oligohydramnios occurs when fet al urine is not produced or cannot be excret ed, as in bilat eral renal agenesis. There is no evidence of urinary obstruction
or renal defects in this case.
Oligohydramnios Renal agenesis Urinary retention Urine Kidney

Bottom Line:
Esophageal atresia causes polyhydramnios during pregnancy.
Polyhydramnios Esophageal atresia Atresia Pregnancy Esophagus

I ill ;fi 1!1 I•J for year:[ 2017 ..

FI RST AID FAC T S

FA17 p 344.3
T - .- - L - - ----L- - - - 1
6
lock
s
Suspend
0
End Block
 Item: 6 of 7 ~ 1 • M k -<:J 1>- Jil ~· !:';-~
QIO: 2594 ..L ar Pre v ious Next Lab~lues Notes Calcula t o r
- . ~ - -- - - - --- -
1 •
Clinical test: fa ilure to pass nasogastric tube into stomach .
2 In 11-type, the fistula resembles the letter II. In pure EA the CXR shows gasless abdomen.
3 Esophagus Tracheoesophageal
4 fistula
5
6
0 7 Esophageal
atres1a

NOfmal anatomy Pure EA Pure TEF EA with distal TEF

(atresla or stenoSis) (H·type) (most common)

FA17p607.1
Amniotic fluid abnormalities
Polyhydramnios Too much amniotic Auid; associated with feta l malformations (eg, esophageal/duodenal atresia,
anencephaly; both result in inability to swallow amniotic fluid), maternal diabetes, fetal anemia,
multiple gestations.
Oligohydramnios Too little amniotic fluid; associated with placental insufficiency, bilateral renal agenesis, posterior
urethral \ah-es (in males) and resultant inability to excrete urine. Any profound oligohydramnios
can cause Potter sequence.

Lock
a s
Suspend
8
End Bl ock
 Item: 7 of 7 ~ 1 • M k -<:J 1>- Jil ~· !:';-~
QIO: 4421 ..L ar Pre v ious Next Lab~lues Not es Calcula t o r

1 •
A neonate has apparent difficulty with feeding, including repeated episodes of choking and coughing with attempted breastfeeding and bottle-
2 feeding. The child, when not feeding, has a normal temperature, heart rate, respiratory rate, and blood pressure. There is no excessive drooling or
cyanosis during feeding. On physical examination the lungs are clear and the heart has no adventitial sounds. Facies are normal. An abnormality Is
3 found on oral exam. The chest X-ray does not show any abnormalities.
4
5 What Is the embryologic abnormality that has caused this child's feeding difficulties?

6 :
A. Failure of the first and second branchial arches to fuse
0 7
B. Failure of the maxillary processes to fuse

C. Failure of the medial nasal processes to fuse

o. Failure of the palatine processes to fuse

E. Failure of the second and third branchial arches to fuse

a
Lock
s
Suspend
8
End Bl ock
Item: 7 of 7 ~ 1 • M k -<:J 1>- Jil ~· !:';-~
QIO: 4421 ..L ar Pre v ious Next Lab~lues Not es Calcula t o r

1 •

2 Th e correct an sw er i s D. 5 40/o chose this.

3 Cleft palates are usually diagnosed at birth during physical examination. An Isolated cleft palate occurs due to the failure of the fusion of the lateral
palatine processes, the medial palatine processes, and/ or the nasal septum. It is not associated with genetic or chromosomal disorders, and hence,
4 patients with an isolated cleft palate typically have normal facies. This orofaclal defect makes it difficult to create the suction needed for proper feeding.
5 I t results In choking and coughing, as well as aspiration and poor weight gain In affected children. However, unlike tracheoesophageal fistula, It Is not
associated w1th cyanosis or excessive drooling during feeding, abdominal distension, and air in the stomach. surgical correction is usually attempted
6 between 9 and 12 months of age.
~racheoes 'P oagea fistula Cyanosis Cleft lip and palate Nasal septum Palate Flstu a '-"' omosome abnormality Septum Stomach Physical examonation
7
A i s not correct. 10% chose this.
The first and second branchial arches do not fuse. The first branchial arch forms Meckel cartilage and the muscles of mastication. An abnormality In the
migration of the 1st-arch neural crest leads to Treacher Collins syndrome which Is characterized by mandibular hypoplasia and facial abnormalities. The
second branchial arch gives rise to Reichert cartilage and the muscles of facial mastication. An abnormality of the second arch leads to congenital
pharyngocutaneous fistula, which is a fistula between the tonsillar area and lateral neck.
Branchial arch Treacher Collins syndrome Mastication Neural crest Muscles of mastication Pharyngeal arch Cartilage Mandible Fistula Congenital disorder
Hypoplasia

B is not co rrect. 120/o chose this.

Failure of the maxillary processes to fuse results in cleft lip. A cleft lip Is a split In the upper lip. This can happen on one or two sides of the lip, creating a
wider opening into the nose. A cleft palate is a split in the roof of the mouth, which leaves a hole between the nose and the mouth. Failure of the
palatine processes to fuse results in cleft palat e. Cleft lip and cleft palate often occur together.
Palatine process of maxilla Cleft lip and palate Palatine bone Palate Lip

C is no t co rrect . 100/o ch ose this.

Failure of the medial nasal processes to fuse results in cleft lip.
Cleft lip and palate Medial nasal prominence Lip Nasal bone

E i s n ot co rrect. 140/o ch ose this.

The second and third branchial arches d o not fuse . The second branchial arch gives rise to Reichert cartilag e an d the muscles of facial
mastication . An abnormality of the second arch leads to congenital pharyngocutaneous fistula, which is a fistula between the tonsillar area and
lateral neck. The third branchial arch forms the greater horn of hyoid and the stylopharyngeus muscle. Abnormalities in the third branchial arch
does not cause cleft palate.

a
Lock
s
Suspend
8
End Bl ock
Item: 7 of 7 ~. I • M k <:] t> al ~· ~
QIO: 4421 .l. ar Previous Next lab 'Vfl1ues Notes Calculator

1 wider opening into the nose. A cleft pa la te is a split in the roof of the mouth, which lea ves a hole between the nose and the mouth. Failure of the
palatine processes to fuse results in cleft palat e. Cleft lip and cleft palat e often occur together.
2 Palatine process of maxilla Cleft lip and palate Palatine bone Palate lip

3 c is not correct. 10 % chose this.

4 Failure of the medial nasal processes to fuse results in cleft lip.
Cleft lip and palate Medial nasal prominence lip Nasal bone
5
E is not correct. 14 % chose this.
6
The second an d third branchial arch es do not fuse. The second branchial arch g ives rise t o Re ichert cartilage an d th e muscles of facial
7 mastication. A n abn or mality of th e second arch lead s t o congenital pharyn gocutan eous fistula, which is a fistula between th e t onsillar area an d
lateral neck . The third branchial arch for ms th e g reater horn of hyoid an d th e stylopharyn geus m uscle. A bn or malities in th e third branchial arch
does not cause cleft palate.
Branchial arch Cleft lip and palate Stylopharyngeus muscle Pharyngeal arch Cartilage Mastication Hyoid bone Palate Muscle Congenital disorder Fistula

Bottom Line:
Cleft palat e results from failure of fusion of the lat eral palatine shelves or the lat eral palatine shelves with the nasal septum. A child with an isolat ed
cleft palat e may have normal facies and present with difficulty with ea ting due to an open connection between the oral and nasal cavity.
Cleft lip and palate Nasal septum Nasal cavity Palate Nasal bone Palatine bone Septum

I ill ;fi 1!1 I•J for year:[ 2017 ..

FI RST AID FA CTS

FA17 p 588.2

Cleft lip and cleft Cleft lip-fa ilure of fusion of the maxilla ry and
palate medial nasal processes (formation of 1° palate). Nasal
Roof~!~ c.Jvity

6
lock
s
Suspend
0
End Block