CHAPTER 3

Embryology

49
HIGH-YIELD PRINCIPLES
50 Section I: General Principles • Questions
Q U E ST I O N S
1. A physician is asked to evaluate a 5-year-old
girl who has developed a mass in her neck.
During the interview, he learns that the mass
appeared within the past few months and has
been enlarging; however, it causes no pain or
discomfort. The mass is in the midline of the
neck just below the hyoid bone. Laboratory
tests reveal a triiodothyronine level of 150 ng/
dL, a thyroxine level of 8.0 μg/dL, and a thy-
roid-stimulating hormone level of 1 μU/mL. A
CT scan of the neck is performed and the doc-
Embryology
tor recommends surgery. What is the most
likely diagnosis?
(A) Branchial cleft cyst
(B) Dermoid cyst
(C) Ectopic thyroid gland
(D) Enlarged pyramidal lobe of the thyroid
(E) Lipoma
(F) Thyroglossal duct cyst
2. A 5-year-old girl is brought to her pediatrician
because her mother says she is frequently
bumping into stationary objects while playing.
Visual field examination shows bilateral pe-
ripheral vision defects. CT of the head reveals
calcifications in the pituitary fossa. Which of
the following is the most likely origin of this
child’s brain tumor?
(A) Adenohypophyseal lactotrophs
(B) Fourth ventricle neuroectoderm
(C) Rathke’s pouch
(D) Vascular endothelium
(E) Ventricular lining
3. A newborn infant is found to have a congenital
urethral abnormality in which the urethral me-
atus opens on the ventral side of the penis, re-
sulting in difficulty directing the urine stream
and ventral curvature of the penis. Which of
the following is the cause of this malforma-
tion?
(A) Failure of urethral fold fusion
(B) Failure of urethrorectal septum formation
(C) Maldevelopment of the urinary sphincters
(D) Short urethra
(E) Urethral stricture
4. A neonate is found to have strong, bounding
pulses in both upper extremities and carotids,
but her femoral pulses are very weak. She is di-
agnosed with coarctation of the aorta and is
taken to surgery to correct the defect. Subse-
quent follow-up examinations show no further
heart abnormalities. Sixteen years later, the pa-
tient is noted to have poorly developed second-
ary sexual characteristics, including persistent,
nonprogressive Tanner stage 2 breast and pu-
bic hair development. She has not experienced
menarche. Which of the following would most
likely be found in this patient?
(A) Decreased estrogen levels
(B) Normal ovaries
(C) Patent ductus arteriosus
(D) Simian crease
(E) 46,XY karyotype
5. A newborn boy is brought to the pediatrician
for further evaluation of an extensive skin rash.
Physical examination shows that this child has
microcephaly, hearing loss, and a petechial
skin rash. The abdominal examination reveals
hepatosplenomegaly. Further questioning of
the infant’s mother reveals that she had “the
flu” early in her pregnancy. A tissue sample
from the infant is sent for culture, which con-
firms the diagnosis. Which of the following is
the correct diagnosis?
(A) Congenitally acquired cytomegalovirus
(B) Congenitally acquired Epstein-Barr virus
(C) Congenitally acquired herpes simplex
virus
(D) Congenitally acquired HIV
(E) Congenitally acquired syphilis
6. A 13-month-old child is brought to the emer-
gency department after his parents found blood
in his stool. They state that he did not appear
distressed at the time, although he now displays
some tenderness to abdominal pressure. Other
than this tenderness, there are no significant
findings on physical examination. After per-
forming radionuclide imaging using 99mTc
pertechnetate, the doctor makes a diagnosis

and recommends surgery to correct the prob-
lem. What is the probable source of this child’s
condition?
(A) Blockage of the intestine due to folding of
the distal ileum into the proximal colon
(B) Breakdown of the stomach mucosal barrier
with erosion of the underlying mucosa
(C) Damage to the intestinal epithelium due
to ingestion of coins
(D) Ectopic gastric epithelium in a persistent
omphalomesenteric duct
(E) Incomplete bowel rotation resulting in ob-
struction of the superior mesenteric artery
7. The accompanying image shows the x-ray find-
ings in a congenital condition. Which of the
following is the most common cause of death
in infants with this condition?
9. Spermatogenesis, the process of forming sper-
10. A 1-week-old infant presents with a urachal fis-
Reproduced, with permission, from PEIR Digital Library
(http://peir.net).
(A) Cardiac tamponade
(B) Mediastinal shift
(C) Pulmonary hypoplasia
(D) Renal agenesis
(E) Small bowel obstruction
8. An infant girl presents with cyanosis 4 hours af-
ter birth. A physician diagnoses her with a con-
HIGH-YIELD PRINCIPLES
Chapter 3: Embryology • Questions 51
dition that develops due to a failure of neural
crest cell migration that results in a nonspiral-
ing aorticopulmonary septum. A careful inter-
view of the mother reveals that she has a dis-
ease that predisposed her child to this
congenital condition. Which of the following
collections of symptoms is this infant’s mother
most likely experiencing?
(A) Arachnodactyly, hyperextensible joints,
and aortic aneurysm
(B) Cold intolerance, delayed reflexes, consti-
pation
(C) Megaloblastic anemia without neurologic
symptoms
Embryology
(D) Mild fever with a descending maculopapu-
lar rash and clear buccal mucosa
(E) Polydipsia, polyuria, and blurred vision
matozoa, occurs in the seminiferous tubules.
As the cells proceed through the different
stages of spermatogenesis, they contain varying
numbers of chromosomes and varying amounts
of DNA. Spermiogenesis describes a particular
stage of spermatogenesis. When the cells are
going through spermiogenesis, which of the
following is the amount of DNA and the num-
ber of chromosomes that exist in those cells?
(A) 23, 1n
(B) 23, 2n
(C) 46, 1n
(D) 46, 2n
(E) 46, 4n
tula, which occurs when the allantois fails to
regress. Normally, the allantois and urachus re-
gress to form a specific structure in the fully
matured neonate. Which of the following is
the mature structure derived from the fetal al-
lantois and urachus?
(A) Ligamentum arteriosum
(B) Ligamentum teres hepatis
(C) Ligamentum venosum
(D) Medial umbilical ligament
(E) Median umbilical ligament
(F) Nucleus pulposus
HIGH-YIELD PRINCIPLES
52 Section I: General Principles • Questions
11. The pancreas is derived from two elements of
the foregut: the ventral pancreatic bud and the
dorsal pancreatic bud. The ventral bud is re-
sponsible for part of the head, the uncinate
process, and one other structure. Which of the
following is the additional structure formed
from the ventral pancreatic bud?
(A) Body of the pancreas
(B) Isthmus of the pancreas
(C) Main pancreatic duct
(D) Pancreatic acinar cells
(E) Pancreatic islet cells
(F) Tail of the pancreas
Embryology
12. A full-term neonate presents to the pediatrician
with failure to pass meconium. Digital exami-
nation of the rectum results in a gush of re-
tained fecal material. Which of the following
is the most likely diagnosis in this infant?
(A) Carcinoma of the colon
(B) Chagas’ disease
(C) Hirschsprung’s disease
(D) Imperforate anus
(E) Necrotizing enterocolitis
13. Immediately following delivery, a newborn is
observed to have multiple abnormalities, in-
cluding a small lower jaw, abnormal feet, and
hands that are clenched into fists. Despite sup-
portive therapy for a congenital heart condi-
tion, the baby dies before 1 year of age. What is
the likely etiology of the patient’s condition?
(A) CAG tandem repeats
(B) Deletion of chromosome 21
(C) Trisomy of chromosome 13
(D) Trisomy of chromosome 18
(E) X chromosome fragility
14. A 5-year-old boy presents to his pediatrician
with dyspnea on exertion. His mother says that
when he exercises, he becomes slightly blue
and breathes unusually heavily. When asked,
the boy states that he becomes more comfort-
able when squatting. Which of the following
embryologic defects underlies this condition?
(A) Anterosuperior displacement of the aorti-
copulmonary septum
(B) Incomplete expansion and division of the
bronchial tree
(C) Incomplete formation of the tracheoesoph-
ageal septum
(D) Incomplete fusion of the right bulbar
ridge, the left bulbar ridge, and the AV
cushions
(E) Nonspiral development of the aorticopul-
monary septum
15. A 6-year-old boy who was born prematurely
presents to his pediatrician because his mother
says that he tires easily. She also notes that he
has had several respiratory infections. On ex-
amination, the boy is noted to be below the
fifth percentile in height; jugular venous pres-
sure is elevated; lips are slightly cyanotic; and a
continuous “machine-like” murmur is heard
over the left upper sternal border. The congen-
ital anomaly responsible for these signs and
symptoms produces which of the following pat-
terns of blood flow in fetal life?
(A) It shunts blood from the inferior vena cava
to the aorta
(B) It shunts blood from the left pulmonary
artery to the aorta
(C) It shunts blood from the left ventricle to
the right ventricle
(D) It shunts blood from the portal vein to the
inferior vena cava
(E) It shunts blood from the right atrium to
the left atrium
16. A baby boy dies 2 days after birth. He was born
with wrinkled skin, deformed limbs, and ab-
normal facies. The mother’s pregnancy was
complicated by oligohydramnios. Which of the
following embryologic processes most likely
failed in this child?
(A) Development of dermis
(B) Development of the kidneys
(C) Fusion of maxillary and medial nasal
prominences
(D) Migration of neural crest cells to the distal
colon
(E) Outgrowth of limb buds

17. As part of the routine physical examination,
physicians typically evaluate palatal elevation
by asking the patient to “say ah.” The muscles
used to perform palatal elevation are derived
from which of the following embryologic struc-
tures?
(A) Branchial arches 1 and 2
(B) Branchial arches 3 and 4
(C) Branchial arches 4 and 6
(D) Branchial clefts 1 and 2
(E) Branchial pouches 3 and 4
18. A 26-year-old woman learns she is pregnant
shortly after discontinuing isotretinoin (13-cis-
retoinic acid). During which period of devel-
opment should this woman be most concerned
about fetal teratogen exposure?
(A) Conception
(B) Weeks 1-2 of gestation
(C) Weeks 3–8 of gestation
(D) Weeks 8–10 of gestation
(E) After the 10th week of gestation
19. A 3-week-old boy presents to his pediatrician
because his mother has noticed that he “looks
HIGH-YIELD PRINCIPLES
Chapter 3: Embryology • Questions 53
yellow.” On questioning, she elaborates that
the jaundice began several days after birth and
has been associated with dark urine and
acholic stools. Laboratory studies show a direct
bilirubin level of 5.0 mg/dL and a total biliru-
bin level of 5.5 mg/dL. Which of the following
is the most likely diagnosis?
(A) Congenital extrahepatic biliary atresia
(B) Crigler-Najjar syndrome type I
(C) Gilbert syndrome
(D) Hereditary spherocytosis
(E) Physiological jaundice
20. Over the course of embryologic development,
Embryology
the predominant location of hematopoiesis
changes several times. Where does this process
take place during the 11th week of fetal life?
(A) Bone marrow
(B) Gastric fundus
(C) Liver
(D) Pancreas
(E) Yolk sac
HIGH-YIELD PRINCIPLES
54 Section I: General Principles • Answers
AN S W E R S
1. The correct answer is F. The thyroid gland
originates as the thyroid diverticulum on the
floor of the pharynx. It descends into the neck
during development, but remains connected to
the tongue by the thyroglossal duct. The thyro-
glossal duct eventually disappears, leaving a
small cavity (the foramen cecum) at the base
of the tongue. The pyramidal lobe of the thy-
roid can be thought of as the caudal part of the
duct. Occasionally, part of the duct epithelium
persists in the neck and may form cysts. Thyro-
Embryology
glossal duct cysts are usually painless or slightly
tender and appear in the midline of the neck.
They often appear over or just below the hyoid,
but may appear anywhere between the base of
the tongue and the thyroid. If a normal thyroid
gland is present, surgery to remove the thyro-
glossal duct cyst is recommended to prevent
infection. In this case, the presence of a nor-
mal thyroid is demonstrated by normal tri-
iodothyronine, thyroxine, and thyroid-stimulat-
ing hormone levels and is confirmed by CT
scan.
Answer A is incorrect. Branchial cleft cysts can
also occur in the neck but are not always in the
midline. Unlike thyroglossal duct cysts, they
are often associated with fistulas or sinus tracts.
Answer B is incorrect. Dermoid cysts are the
second most common cause of midline neck
masses, after thyroglossal duct cysts. They tend
to be more superficial than thyroglossal duct
cysts and more mobile relative to underlying
structures.
Answer C is incorrect. Ectopic thyroid glands
are often seen in the presence of a thyroglossal
duct cyst. An ectopic thyroid gland occurs
when the thyroid fails to descend during devel-
opment; in contrast, ectopic thyroid tissue may
occur along the path of the thyroglossal duct in
the presence of a normal thyroid gland. Unlike
this patient, who has normal thyroid levels,
about one third of patients with an ectopic
gland are hypothyroid. A CT scan is usually
performed to confirm the presence of a normal
thyroid gland before surgery is performed on a
thyroglossal duct cyst.
Answer D is incorrect. Hypertrophy of the py-
ramidal lobe of the thyroid is not the most
likely cause of midline neck swelling in a
young child. Furthermore, hypertrophic thy-
roid tissue would most likely alter thyroid hor-
mone and thyroid-stimulating hormone levels.
Answer E is incorrect. Lipomas may cause
neck swelling, but the location of this mass and
the age of the patient make a thyroglossal duct
cyst much more likely. Lipomas tend to be very
superficial, with poorly defined edges.
2. The correct answer is C. The visual field de-
fect described is a bitemporal hemianopia, typ-
ically caused by lesions in the sella turcica im-
pinging on the optic chiasm. In children the
most common tumor in this location is a cra-
niopharyngioma, derived from the remnants of
Rathke’s pouch. This embryologic structure
buds from the roof of the mouth to form the
anterior pituitary. Bitemporal hemianopia is
typically accompanied by severe headaches
and poor pituitary function. Treatment in-
cludes surgery, radiotherapy, or both.
Answer A is incorrect. Pituitary adenomas, de-
rived from secretory cells of the adenohypoph-
ysis, can cause bitemporal hemianopia and
headaches, as they are also sella turcica tumors.
However, they are more common in older pa-
tients, and are unlikely in a child. Also, pitu-
itary adenomas tend to secrete pituitary hor-
mones. The three most common forms of
pituitary adenoma are prolactinomas (which
are derived from lactotrophs and secrete pro-
lactin, causing galactorrhea and amenorrhea),
growth hormone-secreting tumors (somato-
trophs, causing acromegaly), and ACTH-pro-
ducing tumors (corticotrophs, causing Cush-
ing’s disease). In this case, the only data
making this an incorrect answer are the pa-
tient’s age and the lack of secretory action.
Answer B is incorrect. Medulloblastoma arises
from primitive neuroectoderm in the fourth

ventricle. It does not cause the visual symp-
toms seen in this patient, but the tumor may
compress the fourth ventricle to cause hydro-
cephalus and symptoms consistent with in-
creased intracranial pressure such as morning
headache and vomiting. An additional, specific
sign of this posterior fossa tumor is a head tilt.
Treatment consists of surgery, chemotherapy,
and radiation. When in doubt, remember that
medulloblastoma is the most common malig-
nant brain tumor in children.
4. The correct answer is A. The patient has Turn-
Answer D is incorrect. Hemangioblastomas
are vascular tumors of the central nervous sys-
tem that usually occur in the cerebellum and
spinal cord and thus would be unlikely to
cause the visual field defects described in this
case. Symptoms include cerebellar ataxia, mo-
tor weakness, and sensory dysfunction. Heman-
gioblastomas can occur sporadically or in pa-
tients with von Hippel-Lindau disease, which
is an autosomal dominant disease in which pa-
tients develop cerebellar and retinal hemangio-
blastomas, pancreatic cysts, and pheochromo-
cytomas.
Answer E is incorrect. Ependymomas form
from the cells lining the ventricles and most of-
ten occur in the fourth ventricle. Like medullo-
blastomas, ependymomas can block the flow of
cerebrospinal fluid and cause hydrocephalus.
These patients, however, do not have the visual
disturbances of the patient in this vignette.
3. The correct answer is A. The malformation
described is hypospadias, resulting from in-
complete union of the urethral folds. In the
male, the urethral folds form the ventral aspect
of the penis. In the female, the urethral folds
develop into the labia minora.
Answer B is incorrect. Congenital failure of
urethrorectal septum formation results in an
abnormal communication between the urethra
and the rectum. Clinical signs include feces in
the urine. This is not a cause of hypospadias.
Answer C is incorrect. In males, the proximal
portion of the urethra forms from the urogeni-
tal sinus. The distal urethra is formed by ecto-
derm that is canalized to form the navicular
fossa. If the sphincters do not form properly,
HIGH-YIELD PRINCIPLES
Chapter 3: Embryology • Answers 55
urethral incompetence and incontinence re-
sult.
Answer D is incorrect. A short urethra causes
chordee, or poorly developed penis with ven-
tral curvature, without hypospadias.
Answer E is incorrect. Urethral stricture
causes urethral obstruction and is the second
most common cause of incontinence in older
men. It is not a cause of hypospadias.
er’s syndrome, which is associated with coarc-
tation of the aorta. Turner’s syndrome often
Embryology
presents in adolescence with amenorrhea, and
a diagnostic work-up shows a 45,XO karyotype.
Patients with Turner’s syndrome have poor de-
velopment of secondary sexual characteristics
and are infertile.
Answer B is incorrect. Patients with Turner’s
syndrome have rudimentary ovaries; sexual
ducts and external genital structures appear
normal but are very immature. When exam-
ined histologically at or after birth, the ovaries
are found to be long, pale streaks of tissue de-
void of primordial follicles. Early in gestation
the ovaries appear normal and contain primor-
dial germ cells, but after the third month, num-
bers become severely reduced, and in most pa-
tients oocytes are not present after birth. These
patients are therefore infertile and do not natu-
rally progress through puberty.
Answer C is incorrect. Turner’s syndrome is
not associated with a patent ductus arteriosus
(PDA). Furthermore, in the vignette the pa-
tient’s cardiac examination is normal. With a
PDA, the patient would have a continuous
machinelike murmur.
Answer D is incorrect. A simian crease is com-
monly seen in Down’s syndrome (trisomy 21).
It is not seen in Turner’s syndrome.
Answer E is incorrect. Patients with Turner’s
syndrome have a 45,XO karyotype. In andro-
gen insensitivity syndrome (testicular feminiza-
tion), a genetically male patient can be pheno-
typically female; however, this is not the case
with Turner’s syndrome.
HIGH-YIELD PRINCIPLES
56 Section I: General Principles • Answers

5. The correct answer is A. This is a case of con-
genitally acquired cytomegalovirus (CMV) in-
fection. Fetuses exposed to CMV during the
first trimester may experience intrauterine
growth retardation and be afflicted with central
nervous system damage, with hearing and sight
impairments. Mental retardation will occur
along with microcephaly. A characteristic
“blueberry muffin rash” is usually present.
Answer B is incorrect. Epstein-Barr virus, the
cause of infectious mononucleosis, is a rare
cause of congenital defects. These defects in-
an abrupt and severe presentation, with parox-
ysmal bouts of screaming, vomiting, diarrhea,
and bloody bowel movements occurring within
24 hours of onset.
Answer B is incorrect. Breakdown of the mu-
cosal barrier of the stomach and erosion of the
underlying mucosal epithelium describes the
pathology of a peptic ulcer. Peptic ulcers may
present at any age, but are more common in
patients 12–18 years old than in very young
children. Additionally, it is not diagnosed by
99mTc pertechnetate scanning and is not

clude cataracts, hypotonia, cryptorchidism, and treated surgically unless it perforates.

micrognathia.
Embryology

Answer C is incorrect. Ingestion of foreign ob-

Answer C is incorrect. Herpes simplex virus jects occurs frequently in young children and
can result in a variety of congenital defects, may cause mechanical damage to the intesti-
abortions, and neonatal encephalitis. nal lining. However, they are not detected with
99mTc pertechnetate scanning and rarely re-
Answer D is incorrect. Congenital HIV results
quire surgery.
in neonatal AIDS.
Answer E is incorrect. Abnormal or incom-
Answer E is incorrect. Congenital syphilis can
plete rotation of the intestine as it returns to
result in cranial nerve VIII deafness, mulberry
the abdomen after physiological herniation can
molars, saber shins, saddle nose, and Hutchin-
trap and twist loops of bowel; twisting of these
son’s teeth.
loops (volvulus) can result in obstruction of cir-
6. The correct answer is D. The child was diag- culation and potentially lead to gangrene of
nosed with a Meckel’s diverticulum, which de- the affected segment of intestine. Most affected
scribes the persistence after birth of part of the infants present within the first 3 weeks of life
omphalomesenteric duct (vitelline duct or yolk with bile-containing vomit or bowel obstruc-
stalk). Meckel’s diverticulum is usually found tion. Bloody stool is not a principal sign of mal-
in the mid to distal ileum and may end blindly rotation or volvulus.
or connect to the umbilicus. It is described by
7. The correct answer is C. Pulmonary hypopla-
the “rule of 2’s:” it is about 2 inches long, 2
sia is the most common cause of death in in-
feet from the ileocecal valve, occurs in about
fants born with congenital diaphragmatic her-
2% of the population, is often presents before
nia. When the pleuroperitoneal folds fail to
age 2 years (60% of cases), and may contain 2
fuse with the other components of the dia-
types of epithelium (gastic or pancreatic). Ec-
phragm during development, a hole is created
topic gastric epithelium can cause ulcers and
that allows bowel into the thorax. The physical
bleeding, but does not generally cause severe
compression of the bowels on the lung buds
pain unless inflammation occurs. 99mTc
then prevents full development of the respira-
pertechnetate is absorbed preferentially by gas-
tory system (pulmonary hypoplasia). This leads
tric mucosa and thus may be used to detect ec-
to a common presentation of dyspnea and cy-
topic gastric mucosa in the diverticulum.
anosis and, unless it can be repaired surgically,
Answer A is incorrect. Intussusception is the eventually leads to death.
folding of the distal ileum into the proximal
Answer A is incorrect. Cardiac tamponade is
colon. It usually presents in the first two years
most frequently associated with a pericardial ef-
of life and a Meckel diverticulum may predis-
pose to this condition. However, it typically has

fusion. This is not a common complication of
congenital diaphragmatic hernia.
Answer B is incorrect. Mediastinal shift does
occur in congenital diaphragmatic hernia, as
the bowel invades the thorax and pushes the
mediastinum to the right. However, this in it-
self is not a cause of death.
Answer D is incorrect. Renal agenesis is not
associated with congenital diaphragmatic her-
nia.
Answer E is incorrect. Although it is theoreti-
cally possible for a volvulus to develop as the
bowel herniates into the thorax, small bowel
obstruction is not a common complication of
congenital diaphragmatic hernia.
8. The correct answer is E. This question re-
quires three steps to answer. First, the clinical
scenario should be recognized as transposition
of the great vessels. Early cyanosis is typically
one of three conditions: Transposition, Tetral-
ogy of Fallot, or Truncus arteriosus (the “3
T’s”). Of these, only transposition is due to
nonspiral development of the aorticopulmo-
nary septum. Second, it must be known that
maternal diabetes increases the risk of having a
child with transposition. Finally, the common
symptoms of diabetes must be known: polydip-
sia, polyuria, and blurred vision.
Answer A is incorrect. These are the symp-
toms seen in patients with Marfan’s syndrome,
a condition caused by a defect of connective
tissue. This condition is not associated with
transposition in the offspring of people with
Marfan’s syndrome.
Answer B is incorrect. These symptoms de-
scribe hypothyroidism, which does not increase
the risk of congenital defects.
Answer C is incorrect. This describes the re-
sult of folate deficiency. This is associated with
neural tube defects in the offspring but not
with transposition of the great vessels.
Answer D is incorrect. These symptoms de-
scribe rubella, the result of infection by Rubivi-
rus, a togavirus. Maternal rubella leads to many
congenital defects, including patent ductus ar-
HIGH-YIELD PRINCIPLES
Chapter 3: Embryology • Answers 57
teriosus, ventral septal defect, cataracts, and
deafness, but it is not associated with transposi-
tion.
9. The correct answer is A. Spermiogenesis is the
series of postmeiotic morphologic changes that
mark the final maturation of the sperm. Sper-
matids are the 23, 1n cells that result from sec-
ondary spermatocyte meiosis II completion.
They undergo morphologic changes to be-
come mature sperm that include acrosome,
head, neck, and tail formation.
Answer B is incorrect. Secondary spermato-
cytes are 23, 2n cells that result from primary
Embryology
spermatocytes completing meiosis I. Each pri-
mary spermatocyte forms two secondary sper-
matocytes.
Answer C is incorrect. At no point during
male gametogenesis is there a haploid cell with
46 chromosomes.
Answer D is incorrect. Both primordial germ
cells in the testes, which are dormant until pu-
berty, and type A spermatogonia, which de-
velop at puberty, are 46, 2n cell types. A type A
spermatogonium perpetuates itself to provide a
constant supply of sperm cells; it also differen-
tiates into type B spermatogonia.
Answer E is incorrect. Primary spermatocytes
are 46, 4n cells that result from type B sper-
matogonia DNA replication.
10. The correct answer is E. The allantois and
urachus form the median umbilical ligament.
Do not confuse this with the medial umbilical
ligaments, which are remnants of the umbili-
cal arteries. Even if one did not know the an-
swer to this question immediately, it could be
deduced from the fact that, of the answer
choices, only the median umbilical ligament is
related to the umbilical cord, through which
the allantoic duct passes.
Answer A is incorrect. The ligamentum arte-
riosum is the derivative of the ductus arterio-
sus, which serves to shunt blood from the pul-
monary artery to the aorta in fetal circulation.
HIGH-YIELD PRINCIPLES
58 Section I: General Principles • Answers
Answer B is incorrect. The ligamentum teres
hepatis is the derivative of the umbilical vein,
which brings oxygenated blood from the ma-
ternal circulation to the fetus.
Answer C is incorrect. The ligamentum veno-
sum is the derivative of the ductus venosus,
which shunts blood from the portal vein to the
inferior vena cava.
Answer D is incorrect. The medial umbilical
ligaments are remnants of the umbilical arter-
ies. This should not be confused with the me-
dian umbilical ligament, which is involved in
the formation of a urachal fistula.
Embryology
Answer F is incorrect. The nucleus pulposus
is a remnant of the notochord.
11. The correct answer is C. The ventral pancre-
atic bud also forms the main pancreatic duct
in addition to the uncinate process and a part
of the head. The dorsal pancreatic duct is re-
sponsible for the rest of the structural compo-
nents of the pancreas, including the portion of
the head not formed by the ventral bud.
Answer A is incorrect. The pancreatic body is
formed by the dorsal pancreatic bud.
Answer B is incorrect. The pancreatic isthmus
13. The correct answer is D. This newborn has
is formed by the dorsal pancreatic bud.
Answer D is incorrect. Pancreatic acinar cells,
as well as duct epithelium, are formed from
endoderm. In general, epithelium and glands
of the gastrointestinal mucosa are formed from
endoderm.
Answer E is incorrect. Pancreatic islet cells,
like pancreatic acinar cells, are derived from
endoderm.
Answer F is incorrect. The pancreatic tail is
formed by the dorsal pancreatic bud.
12. The correct answer is C. This patient’s inability
to pass meconium, as well as the subsequent digi-
tal disimpaction, is consistent with Hirschsprung’s
disease, or congenital megacolon. This disorder is
characterized by the absence of ganglion cells in
the large bowel, leading to functional obstruction
and colonic dilatation proximal to the affected
segment. Signs and symptoms of the disease re-
sult from failure of neural crest cell migration
into the bowel wall during development.
Answer A is incorrect. Carcinoma of the colon
can result in mechanical obstruction of the co-
lon and present like acquired megacolon.
However, colonic malignancies develop over
time because the cells need to undergo multi-
ple mutations before undergoing transforma-
tion. Thus, colon carcinoma would be unlikely
in this infant.
Answer B is incorrect. Chronic Chagas’ dis-
ease, a result of Trypanosoma cruzi infection,
can result in acquired megacolon, an unlikely
possibility in a neonate.
Answer D is incorrect. A neonate with imper-
forate anus will present with inability to pass
meconium. However, digital examination of
the rectum and subsequent disimpaction rule
out this diagnosis.
Answer E is incorrect. Necrotizing enterocoli-
tis occurs in a preterm infant and not in a full-
term one. This condition usually occurs sec-
ondary to bowel ischemia.
Edwards’ syndrome, or trisomy 18. Affected
children are born with clenched fists, rocker-
bottom feet, micrognathia (a small lower jaw),
congenital heart disease, and mental retarda-
tion. The survival rate of less than 1 year is sim-
ilar to that of trisomy 13 (Patau’s syndrome),
from which it should be distinguished.
Answer A is incorrect. CAG tandem repeats
are found in Huntington’s disease, among oth-
ers. Huntington’s disease is characterized by
degeneration of the caudate and putamen,
leading to choreiform (dancelike) movements,
but not the birth defects found in this patient.
Answer B is incorrect. A deletion of chromo-
some 21 may cause physical deformity, but
clenched fists and rocker-bottom feet are clas-
sic for trisomy 18.
Answer C is incorrect. Trisomy of chromo-
some 13, or Patau’s syndrome, is characterized

by a constellation of findings including mental
retardation, microphthalmia, microcephaly,
cleft lip/palate, abnormal forebrain structures,
polydactyly, and congenital heart disease.
Answer E is incorrect. This is fragile X syn-
15. The correct answer is B. The child is present-
drome. Associated with CGG tandem repeats,
this syndrome is characterized by mental retar-
dation, a large jaw, and large testes. Children
with fragile X syndrome typically survive be-
yond 1 year of age.
14. The correct answer is A. Pulmonary valve
stenosis (as evidenced here by the left upper
sternal border systolic murmur), Right ventric-
ular hypertrophy, an Overriding aorta, and a
Ventricular septal defect are the four compo-
nents of the tetralogy of Fallot (remember the
mnemonic PROVe). This condition results
from abnormal migration of neural crest cells
and results in the aorticopulmonary septum
being displaced anterosuperiorly. Life-threaten-
ing hypoxia may develop. The child will often
squat in an effort to relieve hypoxia; squatting
increases the systemic pressure, thereby reduc-
ing the right-to-left shunt and improving oxy-
genation. Treatment is corrective surgery.
Answer B is incorrect. Incomplete develop-
ment of the bronchial tree leads to pulmonary
hypoplasia. This may produce dyspnea but is
otherwise inconsistent with this presentation.
Answer C is incorrect. A tracheoesophageal
fistula is the result of incomplete formation of
the tracheoesophageal septum. This produces
gagging and possibly cyanosis on feeding but is
not associated with any of the other findings in
this vignette.
Answer D is incorrect. This describes the eti-
ology of a pure ventricular septal defect (VSD).
A VSD does not produce cyanosis unless it
leads to Eisenmenger’s syndrome, in which
pulmonary hypertension transforms a left-to-
right shunt into a right-to-left shunt. Moreover,
a simple VSD does not cause any of the other
findings of tetralogy of Fallot.
Answer E is incorrect. Nonspiral development
of the aorticopulmonary septum results in
HIGH-YIELD PRINCIPLES
Chapter 3: Embryology • Answers 59
transposition of the great vessels. This does
cause dyspnea and cyanosis but it is evident
much earlier in life and would not result in an
echocardiogram showing tetralogy of Fallot.
ing with common signs and symptoms of a pat-
ent ductus arteriosus (PDA). In the fetus, the
ductus arteriosus serves to shunt blood from
the left pulmonary artery to the aorta, allowing
the blood to avoid the high-resistance lungs
and delivering more oxygenated blood to the
rest of the body. Failure of the ductus arterio-
sus to close is common in premature babies, as
Embryology
in this case as well as in cases of maternal ru-
bella during pregnancy. Indomethacin, a non-
steroidal anti-inflammatory drug, blocks the
production of PGE1 and can be used to close a
PDA.
Answer A is incorrect. There is no fetal struc-
ture or congenital anomaly that shunts blood
from the inferior vena cava to the aorta.
Answer C is incorrect. This pattern of blood
flow is seen with a ventricular septal defect.
This is not a normal feature of fetal circula-
tion. After birth, this will also present with ex-
ercise intolerance but will produce a holosys-
tolic murmur, not a continuous murmur. Also
note that the question is asking about the blood
flow in the fetus; because the pressure on the
right side of the fetal heart is higher than the
pressure on the left, blood will always be
shunted from right to left, not left to right as
this answer choice describes.
Answer D is incorrect. This is the pattern of
blood flow of the ductus venosus. This does
not lead to cardiac pathology.
Answer F is incorrect. In the fetus, the fora-
men ovale shunts blood from the right atrium
to the left atrium, also bypassing the lungs.
This typically closes at birth in response to the
dramatic decrease in right atrial pressure and
increase in left atrial pressure as the infant
takes its first breath and opens the lungs. How-
ever, should it fail to close, a patent foramen
HIGH-YIELD PRINCIPLES
60 Section I: General Principles • Answers
ovale with left to right shunt results. This con-
dition ranges in severity and may not become
clinically apparent until the age of 30 or later.
Signs and symptoms of a patent foramen ovale
include a systolic ejection murmur (not a con-
tinuous murmur) and a widely split fixed S2.
16. The correct answer is B. The presentation de-
scribed here is consistent with Potter’s syn-
drome, or bilateral renal agenesis. The failure
of both kidneys to develop leads to oligohy-
dramnios because the fetus cannot excrete
urine into the amniotic sac. This in turn allows
compression of the fetus by the uterine wall,
Embryology
leading to limb deformities, abnormal facies,
and wrinkly skin. Death occurs shortly after
birth unless an appropriate donor is found.
Answer A is incorrect. A failure of develop-
ment of the dermis would not present with oli-
gohydramnios or deformed limbs, but rather
with skin abnormalities.
Answer C is incorrect. This describes the eti-
ology of cleft lip, which does not cause oligo-
hydramnios or wrinkly skin and is compatible
with life.
Answer D is incorrect. This describes the de-
fect in Hirschsprung’s disease, which results in
failure to pass meconium and in constipation,
but does not share any of the symptoms in this
scenario.
Answer E is incorrect. A problem with limb
bud growth would not produce abnormal fa-
cies or oligohydramnios.
17. The correct answer is B. The muscles that ele-
vate the palate are derived from branchial arch
3 (the stylopharyngeus) and branchial arch 4
(the levator veli palatini). These are innervated
by cranial nerves IX and X, respectively.
Answer A is incorrect. The first branchial arch
generates “M” muscles: muscles of Mastica-
tion (teMporalis, Masseter, Medial and lateral
pterygoids) and the Mylohyoid. The second
arch gives rise to “S” muscles: Stapedius, Sty-
lohyoid, and facial expression muscles. None
of these muscles is involved in palatal eleva-
tion.
Answer C is incorrect. Although branchial
arch 4 does give rise to the levator veli palatini,
branchial arch 6 gives rise to the intrinsic mus-
cles of the larynx (except the cricothyroid,
which is a fourth arch derivative). These mus-
cles are not involved in elevating the palate.
Answer D is incorrect. The first branchial cleft
gives rise to the external auditory meatus, while
the second, third, and fourth clefts are obliter-
ated during development. The clefts are
formed from ectoderm and could not give rise
to muscles, which are derived from mesoderm.
Answer E is incorrect. Branchial pouch 3
gives rise to the thymus (ventral wings) and in-
ferior parathyroid glands (dorsal glands), while
the fourth branchial pouch gives rise to the su-
perior parathyroids. These are obviously not in-
volved in palatal elevation. Remember that
pouches give rise to endoderm-derived tissue,
while the arches give rise to mesoderm-derived
tissue such as muscle.
18. The correct answer is C. Isotretinoin is com-
monly prescribed for severe acne vulgaris and
is a dangerous teratogen that causes defects in
fetal development. As a result, women at risk
of pregnancy should undergo monthly preg-
nancy testing and be counseled to use two
forms of contraception during treatment with
isotretinoin. Like most other teratogens, expo-
sure to isotretinoin during weeks 3–8 of fetal
development is especially damaging since this
is the period during which organogenesis oc-
curs and developing fetal tissues are most sus-
ceptible to the effects of teratogens.
Answer A is incorrect. Teratogen exposure at
the time of conception is less damaging and
typically exerts an “all-or-nothing” effect result-
ing in either embryo-lethality, or no malforma-
tion at all as undifferentiated cells are simply
replaced.
Answer B is incorrect. Teratogen exposure in
early embryogenesis (weeks 1–2 of fetal devel-
opment) normally produces an “all-or-nothing”
effect on malformation and is less risky than
exposure during organogenesis.

Answer D is incorrect. Teratogen exposure
during weeks 8–10 of fetal development is gen-
erally less risky than exposure during weeks
3–8. However, severe birth defects are still pos-
sible as organogenesis sometimes lasts until the
tenth week of fetal development.
Answer E is incorrect. Risk for malformation
is less severe after the 10th week of fetal devel-
opment as organogenesis is complete and most
fetal structures have formed. However, terato-
gen exposure during this interval can lead to
restrictions in fetal growth, low birth weight,
and disorders of the central nervous system.
19. The correct answer is A. The patient is pre-
senting with congenital extrahepatic biliary
atresia. Vignettes that describe a pure elevation
in direct (conjugated) bilirubin strongly sug-
gest an obstructive etiology, as the liver is able
to effectively conjugate bilirubin but fails to ex-
crete it into the small intestine. The absence of
bilirubin in the small bowel results in acholic
stools while increased renal excretion of conju-
gated bilirubin causes a darkening of the urine.
Congenital extrahepatic biliary atresia occurs
when the developing bile ducts close com-
pletely and fail to recanalize. Appropriate ther-
apy of biliary atresia involves anastomosis of the
small bowel directly to intrahepatic bile ducts,
a maneuver known as the Kasai procedure.
Answer B is incorrect. Crigler-Najjar syn-
drome type I is caused by a complete defi-
ciency in UDP-glucuronosyltransferase, the
hepatic enzyme necessary to conjugate biliru-
bin. This disorder produces a severe unconju-
gated (indirect) hyperbilirubinemia that causes
death within the first few years of life. The pa-
tient in this case, however, has a conjugated
hyperbilirubinemia, suggesting an obstructive
cause and ruling out Crigler-Najjar syndrome.
Answer C is incorrect. Gilbert’s syndrome is a
benign disorder caused by a mutation in the
promoter region of UDP-glucuronyltransferase,
leading to diminished expression of the gene.
Patients with this syndrome develop a mild un-
conjugated hyperbilirubinemia but are usually
asymptomatic and have a normal life expec-
tancy.
HIGH-YIELD PRINCIPLES
Chapter 3: Embryology • Answers 61
Answer D is incorrect. Hereditary spherocyto-
sis can cause jaundice and hyperbilirubinemia
secondary to hemolytic anemia. This auto-
somal dominant condition is due to mutations
in spectrin or ankyrin causing RBC membrane
defects that make the cells more fragile to
hemolysis. Peripheral blood smears show small
RBCs without central pallor and diagnosis can
be confirmed with the osmotic fragility test.
Unlike this patient, hereditary spherocytosis
usually presents later in life with a mixed hy-
perbilirubinemia and normal stools.
Answer E is incorrect. Physiologic jaundice
refers to the mild unconjugated (indirect) hy-
Embryology
perbilirubinemia that affects nearly all new-
borns due to the greater turnover of neonatal
RBCs and the decreased bilirubin clearance in
the first few weeks of life. The peak total serum
bilirubin occurs between 72 and 96 hours of
age and resolves within the first few weeks of
life. This patient has a severe conjugated hy-
perbilirubinemia that cannot be explained by
normal neonatal physiological jaundice.
20. The correct answer is C. Until week 5, the
yolk sac is solely responsible for hematopoiesis.
By week 8, the liver has taken over as the pre-
dominant location. It remains so until the bone
marrow takes over around week 28. The thy-
mus and spleen also begin producing blood
cells around week 12 but are never the pre-
dominant sites of hematopoiesis.
Answer A is incorrect. The bone marrow is the
predominant site of hematopoiesis beginning
around week 28 and remains so throughout
adult life.
Answer B is incorrect. The gastric fundus is
the site of parietal cells, which produce intrin-
sic factor and gastric acid. The stomach plays
no role in hematopoiesis.
Answer D is incorrect. The pancreas produces
insulin, glucagon, and digestive enzymes. It
plays no role in hematopoiesis.
Answer E is incorrect. The yolk sac is the pre-
dominant site of hematopoiesis between fetal
weeks 3 and 8.