Diseases of Infancy and Childhood

Question 1

Most common fetal viral infection.

Answer 1

CMV

Question 2

Represent primary errors of morphogenesis in which there is an intrisically abnormal developmental process, commonly multifactorial but may be the result of a single gene chromosomal defect.

Answer 2

Malformations

Question 3

Result from the secondary destruction of an organ or body region that was previously normal in developmen and arise from an extrinsic disturbance in morphogenesis.

Answer 3

Disruptions

Question 4

Classic example of a disruption wherein there is rupture of amnion with resultant formation of bands that encircle, compress or attach to parts of the developing fetus.

Answer 4

Amniotic Bands

Question 5

True / False
Disruptions are not heritable and are not associated with risk of recurrence in subsequent pregnancies.

Answer 5

True

Question 6

Represent an extrinsic distrubance of development and are common problems affecting 2% of newborn infants to varying degrees.

Answer 6

Deformations

Question 7

MC underlying factor responsible for deformations.

Answer 7

Uterine Constraint

Question 8

Maternal Factors

Answer 8

First Pregnancy
Small Uterus
Bicornuate Uterus
Leiomyomas

Question 9

Fetal / Placental Factors

Answer 9

Oligohydramnios
Multiple Fetuses
Abnormal Fetal Presentation

Question 10

A cascade of anomalies triggered by one initiating aberration.

Answer 10

Sequelae

Question 11

Decreased amniotic fluid

Answer 11

Oligohydramnios

Question 12

Other term for oligohydramnios sequence.

Answer 12

Potter sequence

Question 13

Classic phenotype in newborn infants with Potter sequence.

Answer 13

Flattened Facies
Positional Abnormalities of the Hands and Feet

Question 14

Nodules in the amnion.

Answer 14

Amnion Nodosum

Question 15

A constellation of congenital anomalies believed to be pathologically related and cannot be explained on the basis of single, localized, initiating defect.

Answer 15

Malformation Syndrome

Question 16

Refers to the complete absence of an organ and its associated primordium.

Answer 16

Agenesis

Question 17

Absence of an organ due to failure of growth of the existing primordium.

Answer 17

Aplasia

Question 18

The absence of an opening usually of a hollow visceral organ such as the trachea and the intestine.

Answer 18

Atresia

Question 19

An abnormal organization of cells.

Answer 19

Dysplasia

Question 20

Three major categories of known causes of congenital anomalies.

Answer 20

Genetic
Environmental
Multifactorial

Question 21

MC developmental defect of the forebrain and midface in humans.

Answer 21

Holoprosencephaly

Question 22

Used in the treatment of severe acne and is considered as a teratogenic in the developing fetus.

Answer 22

13-cis-retinoic-acid

Question 23

Used as a tranquilizer in Europe which caused high incidence of limb malformations.

Answer 23

Thalidomide

Question 24

Fetal Alcohol Syndrome

Answer 24

Microcephaly
Maxillary Hypoplasia
Mental Retardation
Short Palpebral Fissures

Question 25

Major anomalies seen in diabetic embryopathy.

Answer 25

Cardiac Anomalies
Neural Tube Defects
CNS Malformations

Question 26

Maternal hyperglycemia-induced fetal hyperinsulinemia results in ___________.

Answer 26

Fetal Macrosomia

Question 27

Fetal Macrosomia

Answer 27

Organomegaly
Increased Body Fat
Increased Muscle Mass

Question 28

MCC of congenital malformations.

Answer 28

Multifactorial Inheritance

Question 29

Embryonic Period

Answer 29

First 9 Weeks of Pregnancy

Question 30

Fetal Period

Answer 30

9th Week Until Birth

Question 31

Early embryonic period

Answer 31

First 3 Weeks After Fertilization

Question 32

Peak sensitivity during the early embryonic period occurs between the __ and __ weeks.

Answer 32

Fourth and Fifth

Question 33

Microscopicaly normal cells or tissues that present in abnormal locations examples include rest of pancreatic tissue in the wall of the stomach or a small mass of adrenal cells found in the kidney.

Answer 33

Heterotopia or Choristoma

Question 34

Refers to an excessive, focal over-growth of cells and tissues native to the organ in which it occurs and do not reproduce the normal architecture of the surrounding tissue.

Answer 34

Hamartoma

Question 35

MC neoplasms of childhood are _______.

Answer 35

Soft Tissue Tumors

Question 36

MC tumors of infancy.

Answer 36

Hemangioma

Question 37

Hemangiomas on the face and scalp having flat to elevated, irregular, red-blue masses; Flat large lesions are referred to as _____.

Answer 37

Port-Wine Stains

Question 38

A subset of CNS cavernous hemangiomas can occur in the familial setting; these families harbor mutations in one of three ___________.

Answer 38

Cerebral Cavernous Malformations

Question 39

Characterized by cystic and cavernous spaces occuring in the skin but are more often encountered in the deeper regions of the neck, axilla, mediastium, retroperitoneal tissue and elsewhere.

Answer 39

Lymphangiomas

Question 40

Type of tumor usually presenting as a diffuse swelling of a part or all of an extremity with non progressive lesion and having distortion and deformation due to the spongy,dilated subcutaneous and deeper lymphatics.

Answer 40

Lymphangiectasis

Question 41

Fibrous tumors occuring in infants and childreen ranging from sparsely cellular proliferations of spindle-shaped cells.

Answer 41

Fibromatosis

Question 42

Fibrous tumors which are richly cellular lesions indistinguishable from fibrosarcomas occuring in adults.

Answer 42

Congenital-infantile Fibrosarcomas

Question 43

Chracteristic chromosomal translocation described in congenital-infantile fibrosarcomas resulting in the generation of an ETV6-NTRK3 fusion transcript.

Answer 43

t(12:15)(p13;q25)

Question 44

Diagnostic marker in infantile fibrosarcomas.

Answer 44

ETV6-NTRK3 Fusion Transcript