A mother brings her 3-day-old son to the pediatrician with a concern over drops of a clear yellow discharge from the clamped umbilical cord. These drops have formed every few hours every day. The vital signs are within normal limits and a cursory physical shows no abnormalities. On closer examination, the discharge is shown to be urine. The skin around the umbilical cord appears healthy and healing. The umbilical cord is appropriately discolored. An ultrasound shows a fistula tract that connects the urinary bladder and umbilicus. Which of the following structures failed to form in this patient?
Q22
Research is being conducted on embryoblasts. The exact date of fertilization is unknown. There is the presence of a cytotrophoblast and syncytiotrophoblast, marking the time when implantation into the uterus would normally occur. Within the embryoblast, columnar and cuboidal cells are separated by a membrane. Which of these cell layers begins to line the yolk sac cavity?
Q23
A 31-year-old man presents for his annual physical exam. The physician fails to palpate a ductus deferens on the left side. An ultrasound confirms absence of the left ductus deferens and further reveals absence of the left epididymis, seminal vesicle, and kidney. Spermogram and reproductive hormones panel are within normal limits. Left-sided agenesis of an embryonic anlage is suspected. Which two structures are connected by this anlage during embryogenesis?
Q24
A 13-year-old girl presents to an orthopedic surgeon for evaluation of a spinal curvature that was discovered during a school screening. She has otherwise been healthy and does not take any medications. On presentation, she is found to have significant asymmetry of her back and is sent for a spine radiograph. The radiograph reveals a unilateral rib attached to the left transverse process of the C7 vertebrae. Abnormal expression of which of the following genes is most likely responsible for this finding?
Q25
A 22-year-old G2P1 female presents to the clinic at the beginning of her third trimester for a fetal ultrasound. The sonographer is unable to visualize any of the structures arising from the mesonephric duct in the female fetus. This infant is at risk for malformation of which of the following?
Q26
A 2-year-old boy is brought to the emergency department by his mother for evaluation of severe abdominal pain that began one hour ago. On examination, the patient is afebrile and has diffuse rebound tenderness with acute epigastric pain. A stool guaiac test is positive. A small bowel perforation is suspected. What is the embryologic structure that is the underlying cause of this patient’s presentation?
Q27
A 52-year-old woman sees you in your office with a complaint of new-onset headaches over the past few weeks. On exam, you find a 2 x 2 cm dark, irregularly shaped, pigmented lesion on her back. She is concerned because her father recently passed away from skin cancer. What tissue type most directly gives rise to the lesion this patient is experiencing?
Q28
A 10-year-old boy is brought to his pediatrician over concern for a 2-month history of headaches. Recently, the patient has been experiencing nausea and vomiting, along with some difficulty with coordination during soccer practice last week. On exam, the patient's temperature is 98.2°F (36.8°C), blood pressure is 110/80 mmHg, pulse is 72/min, and respirations are 14/min. On further evaluation, the patient is found to have a well-encapsulated posterior fossa mass. The patient undergoes surgical resection, and the mass is found to be positive for GFAP. Which of the following is derived from the same embryologic germ layer as the cells that comprise this tumor?
Q29
A 29-year-old mother brings in her 2-week-old baby boy to a pediatrician because he has been having difficulty feeding. The mother reveals that she had no prenatal care during her pregnancy and gave birth at home without complications. She says that her son seems to be having difficulty sucking, and she occasionally sees breast milk coming out of the infant’s nose. Physical exam reveals that this patient has a gap between his oral and nasal cavities behind the incisive foramen. He is therefore prescribed specialized bottles and his mom is taught positional techniques to ensure better feeding. Failure to fuse which of the following structures is most likely responsible for this patient's disorder?
Q30
A six year-old female presents for evaluation of dry skin, fatigue, sensitivity to cold and constipation. The patient’s mother recalls that the patient had surgery to remove a “benign mass” at the base of her tongue 3 months ago because of trouble swallowing. What was the likely cause of the surgically removed mass?
Embryology US Medical PG Practice Questions and MCQs
Question 21: A mother brings her 3-day-old son to the pediatrician with a concern over drops of a clear yellow discharge from the clamped umbilical cord. These drops have formed every few hours every day. The vital signs are within normal limits and a cursory physical shows no abnormalities. On closer examination, the discharge is shown to be urine. The skin around the umbilical cord appears healthy and healing. The umbilical cord is appropriately discolored. An ultrasound shows a fistula tract that connects the urinary bladder and umbilicus. Which of the following structures failed to form in this patient?
A. Round ligament of the liver
B. Lateral umbilical ligament
C. Median umbilical ligament (Correct Answer)
D. Falciform ligament
E. Medial umbilical ligament
Explanation: ***Median umbilical ligament***
- The discharge of urine from the **umbilical cord stump** is indicative of a **patent urachus**, which occurs when the embryological connection between the bladder and umbilicus (the urachus) fails to close.
- The urachus should normally obliterate and form the **median umbilical ligament** in adults, so its failure to form or close is the underlying cause for the fistula.
*Round ligament of the liver*
- This ligament is the remnant of the **umbilical vein** and is responsible for connecting the umbilicus to the liver.
- A defect in the round ligament of the liver would typically present with symptoms related to hepatic circulation or umbilical hernias, not urinary discharge.
*Lateral umbilical ligament*
- This option likely refers to the **medial umbilical ligaments** (lateral umbilical folds), which are remnants of the **obliterated umbilical arteries**.
- These paired structures carry blood from the internal iliac arteries to the placenta during fetal life and obliterate after birth.
- Failure of these structures to obliterate would typically involve vascular issues, not a urinary fistula from the bladder.
*Falciform ligament*
- The falciform ligament is a **peritoneal fold** that attaches the liver to the anterior abdominal wall and contains the round ligament of the liver in its free edge.
- While it is related to the umbilicus, its primary role is in supporting the liver, and its failure to form would not cause persistent urinary discharge from the umbilicus.
*Medial umbilical ligament*
- The medial umbilical ligaments are remnants of the **umbilical arteries**, which carry deoxygenated blood from the fetus to the placenta.
- Failure of these structures to obliterate would typically involve vascular issues or persistent patent arteries, not a urinary fistula.
Question 22: Research is being conducted on embryoblasts. The exact date of fertilization is unknown. There is the presence of a cytotrophoblast and syncytiotrophoblast, marking the time when implantation into the uterus would normally occur. Within the embryoblast, columnar and cuboidal cells are separated by a membrane. Which of these cell layers begins to line the yolk sac cavity?
A. Hypoblast (Correct Answer)
B. Epiblast
C. Syncytiotrophoblast
D. Inner cell mass
E. Endoderm
Explanation: ***Hypoblast***
- The **hypoblast** is a layer of cuboidal cells that forms from the inner cell mass around day 8 post-fertilization.
- It plays a crucial role in forming the **primary yolk sac** by migrating to line the exocoelomic cavity.
*Epiblast*
- The **epiblast** is composed of columnar cells located dorsal to the hypoblast and forms the floor of the **amniotic cavity**.
- It is the source of the **three primary germ layers** during gastrulation (ectoderm, mesoderm, and endoderm), not the yolk sac lining itself.
*Syncytiotrophoblast*
- The **syncytiotrophoblast** is the outer, invasive layer of the trophoblast that facilitates implantation and forms the fetal component of the placenta.
- It is not involved in lining the yolk sac cavity but rather in **invading the uterine endometrium** and producing hCG.
*Inner cell mass*
- The **inner cell mass (ICM)** is the cluster of cells within the blastocyst that gives rise to the embryoblast (which further differentiates into epiblast and hypoblast).
- The ICM itself does not line the yolk sac; rather, its derivative, the hypoblast, does.
*Endoderm*
- The **endoderm** is one of the three primary germ layers that forms during gastrulation from the epiblast derivative.
- It ultimately forms the linings of the **gastrointestinal and respiratory tracts**, not the primary yolk sac lining.
Question 23: A 31-year-old man presents for his annual physical exam. The physician fails to palpate a ductus deferens on the left side. An ultrasound confirms absence of the left ductus deferens and further reveals absence of the left epididymis, seminal vesicle, and kidney. Spermogram and reproductive hormones panel are within normal limits. Left-sided agenesis of an embryonic anlage is suspected. Which two structures are connected by this anlage during embryogenesis?
A. Metanephros and coelom
B. Mesonephros and coelom
C. Pronephros and cloaca
D. Mesonephros and cloaca (Correct Answer)
E. Pronephros and coelom
Explanation: ***Mesonephros and cloaca***
- The **mesonephros** forms the **mesonephric (Wolffian) duct**, which connects to the **cloaca**.
- In males, this duct gives rise to the **epididymis**, **vas deferens**, **seminal vesicles**, and **ureteric bud** (which forms the kidney collecting system). The simultaneous absence of the kidney, epididymis, and seminal vesicle indicates a defect in this developmental pathway.
*Metanephros and coelom*
- The **metanephros** is a later stage of kidney development, forming the definitive kidney parenchyma, but it does **not connect directly to the coelom**.
- Its excretory ducts develop from an interaction with the ureteric bud (derived from the mesonephric duct), not directly from the coelom.
*Mesonephros and coelom*
- While the **mesonephros** develops within the intermediate mesoderm adjacent to the **coelom**, its primary connection relevant to these structures is to the cloaca via the mesonephric duct.
- The **coelom** is the primitive body cavity, and direct connections to the adult reproductive/urinary tracts in this manner are not embryologically accurate for this defect.
*Pronephros and cloaca*
- The **pronephros** is a transient, non-functional embryonic kidney structure that degenerates early in development and does **not form the definitive male reproductive or urinary structures** seen here.
- Its connection to the cloaca is not as direct or as developmentally critical for the structures described in the case.
*Pronephros and coelom*
- Similar to the previous option, the **pronephros** is an early and transient structure.
- It does **not develop into the adult genitourinary structures** affected in this patient, and its relationship with the coelom is not the key to understanding this specific congenital anomaly.
Question 24: A 13-year-old girl presents to an orthopedic surgeon for evaluation of a spinal curvature that was discovered during a school screening. She has otherwise been healthy and does not take any medications. On presentation, she is found to have significant asymmetry of her back and is sent for a spine radiograph. The radiograph reveals a unilateral rib attached to the left transverse process of the C7 vertebrae. Abnormal expression of which of the following genes is most likely responsible for this finding?
A. WNT7
B. FGF
C. Homeobox (Correct Answer)
D. PAX
E. Sonic hedgehog
Explanation: ***Homeobox***
- **Homeobox genes (HOX genes)** play a crucial role in specifying the identity of vertebral segments along the **craniocaudal axis** during embryonic development.
- An abnormal expression of these genes can lead to **skeletal malformations**, such as the formation of a **cervical rib**, by altering the segmental identity of the C7 vertebra.
*WNT7*
- **WNT7 genes** are involved in limb patterning and have a role in the formation of the **dorsoventral axis** of the limb and kidney development.
- They are not primarily associated with vertebral segmentation or the formation of cervical ribs.
*FGF*
- **Fibroblast growth factor (FGF) genes** are essential for various processes, including limb development, neurogenesis, and angiogenesis.
- While they are involved in numerous developmental pathways, they are not the primary genes responsible for specifying vertebral identity and thus cervical rib formation.
*PAX*
- **PAX genes** are a family of transcription factors critical for organ development, especially of the eye, brain, and kidney.
- While important for development, they are not directly implicated in the specification of vertebral segments or the pathogenesis of cervical ribs.
*Sonic hedgehog*
- **Sonic hedgehog (SHH)** signaling is a key pathway in embryonic development, particularly for pattern formation in the neural tube, limbs, and facial structures.
- While crucial for body axis development and segmentation, **HOX genes** have a more direct role in determining the specific identity of vertebral segments and causing cervical ribs.
Question 25: A 22-year-old G2P1 female presents to the clinic at the beginning of her third trimester for a fetal ultrasound. The sonographer is unable to visualize any of the structures arising from the mesonephric duct in the female fetus. This infant is at risk for malformation of which of the following?
A. Fallopian tubes
B. Upper 1/3 of vagina
C. Uterus
D. No malformation would be expected (Correct Answer)
E. Lower 2/3 of vagina
Explanation: ***No malformation would be expected***
- In females, structures originating from the **mesonephric duct** (Wolffian duct) normally **regress** due to the absence of testosterone.
- The female reproductive tract develops from the **paramesonephric duct** (Müllerian duct), which differentiates into the fallopian tubes, uterus, and upper vagina.
*Fallopian tubes*
- The **fallopian tubes** develop from the **paramesonephric (Müllerian) duct**, not the mesonephric duct.
- Therefore, non-visualization of mesonephric duct structures would not affect their development.
*Upper 1/3 of vagina*
- The **upper 1/3 of the vagina** also develops from the **paramesonephric (Müllerian) duct**.
- Its formation is independent of the mesonephric duct.
*Uterus*
- The **uterus** originates from the fusion of the two **paramesonephric (Müllerian) ducts**.
- Its development is not dependent on mesonephric duct structures.
*Lower 2/3 of vagina*
- The **lower 2/3 of the vagina** develops from the **urogenital sinus**, which is distinct from both the mesonephric and paramesonephric ducts.
- Thus, it would not be affected by non-development or non-visualization of mesonephric duct structures.
Question 26: A 2-year-old boy is brought to the emergency department by his mother for evaluation of severe abdominal pain that began one hour ago. On examination, the patient is afebrile and has diffuse rebound tenderness with acute epigastric pain. A stool guaiac test is positive. A small bowel perforation is suspected. What is the embryologic structure that is the underlying cause of this patient’s presentation?
A. Fibrous cord remnant
B. Anal membrane
C. Vermiform appendix
D. Cloaca
E. Vitelline duct (Correct Answer)
Explanation: ***Vitelline duct***
- The symptoms of **severe abdominal pain**, rebound tenderness, epigastric pain, and **positive stool guaiac** (indicating bleeding) in a 2-year-old suggest a bleeding **Meckel's diverticulum**, which is a remnant of the **vitelline duct**.
- **Meckel's diverticulum** is the most common congenital anomaly of the GI tract, often containing **ectopic gastric or pancreatic tissue** that can lead to ulceration, bleeding, or perforation.
*Fibrous cord remnant*
- While a fibrous cord remnant can be associated with the **vitelline duct**, it typically presents with **intestinal obstruction (volvulus or intussusception)** rather than perforation and bleeding from ectopic mucosa.
- A fibrous cord is a potential complication of a persistent **vitelline duct**, but it is not the underlying embryologic structure responsible for ectopic tissue or bleeding.
*Anal membrane*
- The **anal membrane** is involved in the development of the **anus and rectum**.
- Persistence of the **anal membrane** would lead to **anal atresia** or stenosis, causing symptoms of difficult defecation or obstruction, not abdominal pain and perforation like in this case.
*Vermiform appendix*
- The **vermiform appendix** is a lymphoid organ arising from the **cecum**.
- While **appendicitis** can cause severe abdominal pain and perforation, a positive stool guaiac and presentation with ectopic gastric tissue leading to ulceration are not characteristic features.
*Cloaca*
- The **cloaca** is a common embryologic structure that divides into the **urogenital sinus** and the **anorectal canal**.
- Abnormalities of the **cloaca** typically result in complex **anomalies of the urogenital and GI tracts**, such as persistent cloaca with a single perineal opening, not an isolated perforation with bleeding.
Question 27: A 52-year-old woman sees you in your office with a complaint of new-onset headaches over the past few weeks. On exam, you find a 2 x 2 cm dark, irregularly shaped, pigmented lesion on her back. She is concerned because her father recently passed away from skin cancer. What tissue type most directly gives rise to the lesion this patient is experiencing?
A. Neural crest cells (Correct Answer)
B. Endoderm
C. Mesoderm
D. Ectoderm
E. Neuroectoderm
Explanation: ***Neural crest cells***
- The suspected lesion, given its description and the patient's family history of skin cancer, is likely a **melanoma**.
- Melanoma originates from **melanocytes**, which are derived from **neural crest cells** during embryonic development.
*Endoderm*
- The endoderm gives rise to the **lining of the gastrointestinal and respiratory tracts**, as well as organs such as the liver and pancreas.
- It is not involved in the formation of melanocytes or skin lesions like melanoma.
*Mesoderm*
- The mesoderm forms tissues such as **muscle, bone, cartilage, connective tissue**, and the circulatory system.
- It does not directly give rise to melanocytes, which are the cells of origin for melanoma.
*Ectoderm*
- The ectoderm gives rise to the **epidermis, nervous system**, and sensory organs.
- While melanocytes are found in the epidermis, they are specifically derived from the **neural crest (a sub-population of ectoderm)**, not the general ectoderm.
*Neuroectoderm*
- Neuroectoderm specifically refers to the ectoderm that develops into the **nervous system**.
- While neural crest cells originate from the neuroectoderm, "neural crest cells" is a more precise answer for the origin of melanocytes.
Question 28: A 10-year-old boy is brought to his pediatrician over concern for a 2-month history of headaches. Recently, the patient has been experiencing nausea and vomiting, along with some difficulty with coordination during soccer practice last week. On exam, the patient's temperature is 98.2°F (36.8°C), blood pressure is 110/80 mmHg, pulse is 72/min, and respirations are 14/min. On further evaluation, the patient is found to have a well-encapsulated posterior fossa mass. The patient undergoes surgical resection, and the mass is found to be positive for GFAP. Which of the following is derived from the same embryologic germ layer as the cells that comprise this tumor?
A. Ependymal cells (Correct Answer)
B. Nucleus pulposus
C. Schwann cells
D. Microglia
E. Melanocytes
Explanation: ***Ependymal cells***
- The tumor described is a **pilocytic astrocytoma**, a common **posterior fossa tumor** in children, characterized by its **well-encapsulated** nature and **GFAP positivity**, indicating an **astrocytic origin**.
- **Astrocytes** develop from the **neuroectoderm/neural tube**, as do **ependymal cells**, which line the ventricles and central canal of the spinal cord.
*Nucleus pulposus*
- The **nucleus pulposus** is a remnant of the **notochord**, which originates from the **mesoderm**.
- This embryological origin is distinct from the **neuroectodermal** origin of the tumor cells.
*Schwann cells*
- **Schwann cells** are derived from the **neural crest**, which is also **ectodermal** but represents a different lineage than the **neural tube**.
- While both contribute to the nervous system, **neural crest cells** form the peripheral nervous system, whereas the **neural tube** forms the central nervous system.
*Microglia*
- **Microglia** are the immune cells of the CNS and are derived from the **mesoderm**, specifically from **monocytes** in the yolk sac.
- Their origin is distinct from the **neuroectodermal** lineage of astrocytes.
*Melanocytes*
- **Melanocytes** are pigment-producing cells found in the skin, hair, and eyes, and they are derived from the **neural crest**.
- This makes their embryological origin different from the **neural tube** cells that give rise to astrocytes.
Question 29: A 29-year-old mother brings in her 2-week-old baby boy to a pediatrician because he has been having difficulty feeding. The mother reveals that she had no prenatal care during her pregnancy and gave birth at home without complications. She says that her son seems to be having difficulty sucking, and she occasionally sees breast milk coming out of the infant’s nose. Physical exam reveals that this patient has a gap between his oral and nasal cavities behind the incisive foramen. He is therefore prescribed specialized bottles and his mom is taught positional techniques to ensure better feeding. Failure to fuse which of the following structures is most likely responsible for this patient's disorder?
A. Maxillary and medial nasal prominences
B. Nasal septum with primary plates
C. Maxillary and lateral nasal prominences
D. Palatine shelves with primary plates
E. Palatine shelves with nasal septum (Correct Answer)
Explanation: ***Palatine shelves with nasal septum***
- A **cleft palate** results from the **failure of fusion of the palatine shelves** with each other and/or with the **nasal septum**, creating an abnormal communication between the oral and nasal cavities.
- This anatomical defect explains the infant's **feeding difficulties** and the leakage of breast milk into the nose, as well as the observed **gap behind the incisive foramen**.
*Maxillary and medial nasal prominences*
- The failure of fusion between the maxillary and medial nasal prominences results in a **cleft lip**, which is an anterior defect and does not explain the posterior gap described.
- While cleft lip can coexist with cleft palate, the symptoms here specifically point to a palatal defect, not primarily a lip defect.
*Nasal septum with primary plates*
- The primary palate forms from the fusion of the medial nasal prominences, anterior to the incisive foramen.
- While crucial for normal development, the specific clinical presentation (gap *behind* the incisive foramen and feeding difficulties) is more characteristic of a secondary palate defect involving the palatine shelves.
*Maxillary and lateral nasal prominences*
- The fusion of these structures contributes to the formation of the **nasolacrimal groove** and parts of the cheek, not the palate.
- Deficiencies in this fusion would lead to defects in the lateral facial region, not an oro-nasal communication related to feeding.
*Palatine shelves with primary plates*
- The **primary palate** fuses with the anterior part of the secondary palate (formed by the palatine shelves) at the incisive foramen.
- However, the more common and clinically relevant defect leading to an open communication between the oral and nasal cavities, especially *behind* the incisive foramen, involves the failure of fusion of the **palatine shelves** with each other and the **nasal septum**.
Question 30: A six year-old female presents for evaluation of dry skin, fatigue, sensitivity to cold and constipation. The patient’s mother recalls that the patient had surgery to remove a “benign mass” at the base of her tongue 3 months ago because of trouble swallowing. What was the likely cause of the surgically removed mass?
A. Failed caudal migration of the thyroid gland (Correct Answer)
B. Iodine deficiency
C. Failed fusion of the palatine shelves with the nasal septum
D. Radiation exposure
E. Maternal Diabetes Mellitus
Explanation: ***Failed caudal migration of the thyroid gland***
- The symptoms of **dry skin, fatigue, cold sensitivity, and constipation** are classic signs of **hypothyroidism**.
- A mass at the **base of the tongue** that is later removed and leads to hypothyroidism strongly suggests a **lingual thyroid**, which results from the thyroid gland's **failure to descend** from its embryonic origin at the foramen cecum.
*Iodine deficiency*
- While iodine deficiency can cause **hypothyroidism** and **goiter**, it typically does not present as a **discrete mass** at the base of the tongue requiring surgical removal.
- It would usually result in a more generalized **enlargement of the thyroid gland**, often in the neck.
*Failed fusion of the palatine shelves with the nasal septum*
- This developmental anomaly leads to a **cleft palate**, affecting the **roof of the mouth**.
- It has no direct association with thyroid function or masses at the base of the tongue.
*Radiation exposure*
- Radiation exposure can increase the risk of thyroid cancer or hypothyroidism later in life, but it typically doesn't cause a congenital benign mass at the base of the tongue that presents in early childhood.
- Furthermore, the specific presentation points to a developmental anomaly rather than an acquired condition.
*Maternal Diabetes Mellitus*
- Maternal diabetes can lead to various congenital anomalies in the fetus, such as **macrosomia, caudal regression syndrome, or cardiac defects**.
- However, it is not a recognized cause of a lingual thyroid or a failure of thyroid migration.