Congenital Anatomic Defects Quiz

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anatomic defects that are mostly present at birth and some may not be clinically apparent until years later

Congenital anomalies

What year of birth is the most common cause of mortality of congenital anomalies?

First year

Refers to the process of organ and tissue development

Morphogenesis

Morphogenesis can be impaired by a variety of what errors?

Malformations, Disruptions, Deformations, Sequence, Malformation syndrome Signup and view all the answers

represent PRIMARY errors of morphogenesis

involves an INTRINSICALLY abnormal developmental process

Malformations Signup and view all the answers

Malformations can be a result of

Single gene or chromosomal defect but are more commonly multifactorial in origin Signup and view all the answers

one or more extra digits

Polydactyly Signup and view all the answers

fusion of digits

Syndactyly Signup and view all the answers

Cleft lip is what malformation syndrome

Trisomy 13 Signup and view all the answers

severe and essentially lethal malformation, wherein the midface structures are fused or ill-formed; in almost all cases, this degree of external dysmorphogenesis is associated with severe internal anomalies such as maldevelopment of the brain and cardiac defects

Stillbirth Signup and view all the answers

SECONDARY destruction of an organ or body region that was previously normal in development and arise from an EXTRINSIC disturbance in morphogenesis and may be caused by a variety of environmental agents. NOT HERITABLE

Disruptions Signup and view all the answers

classic example of disruption

rupture of amnion with resultant formation of “bands” that encircle, compress, or attach to parts of the developing fetus

Amniotic bands Signup and view all the answers

also arise from an extrinsic disturbance in morphogenesis

involve localized or generalized compression of the growing fetus by abnormal biomechanical forces

Deformations Signup and view all the answers

serve as the most common underlying factor of deformations

between the 35th-36th week of gestation, rapid increase in the size of the fetus outpaces the growth of the uterus

Uterine constraint Signup and view all the answers

Maternal factors that increase the likelihood of excessive compression

First pregnancy, small uterus, malformed (bicornuate) uterus, leiomyomas Signup and view all the answers

Fetal or placental factors that increase the likelihood of excessive compression

Oligohydramnios, multiple fetuses, abnormal fetal presentation Signup and view all the answers

cascade of anomalies triggered by 1 initiating aberration, may be explained by a single localized aberration in organogenesis (malformation, disruption, deformation) → cause secondary effects in other organs

Sequence Signup and view all the answers

chronic leakage of amniotic fluid d/t rupture of amnion -uteroplacental insufficiency d/t maternal hypertension or severe toxemia renal agenesis

Oligohydramnios Signup and view all the answers

Oligohydramnios

o flattened facies o positional abnormalities of hands and feet o breech presentation; dislocation of hips o hypoplastic lungs → usual cause of fetal demise o amnion nodosum (nodules in the amnion) Signup and view all the answers

constellation of congenital anomalies that cannot be explained on the basis of a single, localized, initiating defect

most often caused by a single etiologic agent (e.g., viral infection, chromosomal abnormality) which simultaneously affects several tissues

Malformation syndrome Signup and view all the answers

complete absence of an organ and its associated primordium

Agenesis Signup and view all the answers

absence of an organ that occurs d/t failure of growth of the existing primordium

Aplasia Signup and view all the answers

absence of an opening of a hollow visceral organ (e.g., trachea, intestine)

Atresia Signup and view all the answers

incomplete development or decreased size of an organ with decreased number of cells

Hypoplasia Signup and view all the answers

enlargement of an organ d/t increased number of cells

Hyperplasia Signup and view all the answers

abnormal organization of cells

Dysplasia Signup and view all the answers

Arise from gametogenesis (not familial) o Examples:

Down Syndrome and other trisomies

Turner Syndrome

Klinefelter syndrome

Chromosomal aberrations (10-15%) Signup and view all the answers

o underlie major malformations o characterized by mendelian inheritance

Single-gene mutations (2-10%) Signup and view all the answers

most common form of short limb dwarfism

gain-of-function mutations in fibroblast growth factor receptor 3 (which is a negative regulator of bone growth)

Achondroplasia Signup and view all the answers

Holoprosencephaly

<ul> <li>most common developmental defect of the forebrain and midface in humans</li> <li>loss-of function mutations in Hedgehog signaling pathway (which plays a critical role in the morphogenesis of the said structures)</li> </ul> Signup and view all the answers

most common form of short limb dwarfism

gain-of-function mutations in fibroblast growth factor receptor 3 (which is a negative regulator of bone growth)

Achondroplasia Signup and view all the answers

Single gene mutations (2-10%)

Holoprosencephaly, Achondroplasia Signup and view all the answers

Maternal/placental infections

Rubella, Cytomegalovirus, Herpes simplex, varicella-zoster, influenza, mumps, HIV, and enterovirus Signup and view all the answers

infection extends from shortly before conception to the 16th week of gestation

Hazard greater in the FIRST 8 weeks than in the second 8 weeks

Rubella Signup and view all the answers

cataracts, heart defects, deafness, mental retardation

Congenital rubella syndrome Signup and view all the answers

CNS involvement, metal retardation, microcephaly, deafness, hepatosplenomegaly

Cytomegalovirus Signup and view all the answers

most common fetal viral infection

highest at risk period: 2nd trimester of pregnancy

Cytomegalovirus Signup and view all the answers

Maternal diseases states (6-8%)

diabetes, phenylketonuria, endocrinopathies Signup and view all the answers

cause maternal hyperglycemia-induced fetal hyperinsulinemia or diabetic embryopathy

results in fetal macrosomia (organomegaly + increased body fat and muscle mass)

Diabetes mellitus Signup and view all the answers

used as a tranquilizer

causes 50-80% of limb abnormalities in exposed fetus

Thalidomide Signup and view all the answers

Mode of action of thalidomide

downregulation of WNT signaling pathway through the upregulation of endogenous WNT repressors Signup and view all the answers

Most widely used teratogen and cause fetal alcohol syndrome

Alcohol Signup and view all the answers

What pathways does alcohol disrupt?

Retinoic acid signaling pathway and Hedgehog signaling pathway Signup and view all the answers

Congenital Anatomic Defects Quiz

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anatomic defects that are mostly present at birth and some may not be clinically apparent until years later

What year of birth is the most common cause of mortality of congenital anomalies?

Refers to the process of organ and tissue development

Morphogenesis can be impaired by a variety of what errors?

represent PRIMARY errors of morphogenesis involves an INTRINSICALLY abnormal developmental process

Malformations can be a result of

one or more extra digits

fusion of digits

Cleft lip is what malformation syndrome

severe and essentially lethal malformation, wherein the midface structures are fused or ill-formed; in almost all cases, this degree of external dysmorphogenesis is associated with severe internal anomalies such as maldevelopment of the brain and cardiac defects

SECONDARY destruction of an organ or body region that was previously normal in development and arise from an EXTRINSIC disturbance in morphogenesis and may be caused by a variety of environmental agents. NOT HERITABLE

classic example of disruption rupture of amnion with resultant formation of “bands” that encircle, compress, or attach to parts of the developing fetus

also arise from an extrinsic disturbance in morphogenesis involve localized or generalized compression of the growing fetus by abnormal biomechanical forces

serve as the most common underlying factor of deformations between the 35th-36th week of gestation, rapid increase in the size of the fetus outpaces the growth of the uterus

Maternal factors that increase the likelihood of excessive compression

Fetal or placental factors that increase the likelihood of excessive compression

cascade of anomalies triggered by 1 initiating aberration, may be explained by a single localized aberration in organogenesis (malformation, disruption, deformation) → cause secondary effects in other organs

chronic leakage of amniotic fluid d/t rupture of amnion -uteroplacental insufficiency d/t maternal hypertension or severe toxemia renal agenesis

Oligohydramnios

constellation of congenital anomalies that cannot be explained on the basis of a single, localized, initiating defect most often caused by a single etiologic agent (e.g., viral infection, chromosomal abnormality) which simultaneously affects several tissues

complete absence of an organ and its associated primordium

absence of an organ that occurs d/t failure of growth of the existing primordium

absence of an opening of a hollow visceral organ (e.g., trachea, intestine)

incomplete development or decreased size of an organ with decreased number of cells

enlargement of an organ d/t increased number of cells

abnormal organization of cells

Arise from gametogenesis (not familial) o Examples: Down Syndrome and other trisomies Turner Syndrome Klinefelter syndrome

o underlie major malformations o characterized by mendelian inheritance

most common form of short limb dwarfism gain-of-function mutations in fibroblast growth factor receptor 3 (which is a negative regulator of bone growth)

Holoprosencephaly

most common form of short limb dwarfism gain-of-function mutations in fibroblast growth factor receptor 3 (which is a negative regulator of bone growth)

Single gene mutations (2-10%)

Maternal/placental infections

infection extends from shortly before conception to the 16th week of gestation Hazard greater in the FIRST 8 weeks than in the second 8 weeks

cataracts, heart defects, deafness, mental retardation

CNS involvement, metal retardation, microcephaly, deafness, hepatosplenomegaly

most common fetal viral infection highest at risk period: 2nd trimester of pregnancy

Maternal diseases states (6-8%)

cause maternal hyperglycemia-induced fetal hyperinsulinemia or diabetic embryopathy results in fetal macrosomia (organomegaly + increased body fat and muscle mass)

used as a tranquilizer causes 50-80% of limb abnormalities in exposed fetus

Mode of action of thalidomide

Most widely used teratogen and cause fetal alcohol syndrome

What pathways does alcohol disrupt?

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represent PRIMARY errors of morphogenesis

involves an INTRINSICALLY abnormal developmental process

classic example of disruption

rupture of amnion with resultant formation of “bands” that encircle, compress, or attach to parts of the developing fetus

also arise from an extrinsic disturbance in morphogenesis

involve localized or generalized compression of the growing fetus by abnormal biomechanical forces

serve as the most common underlying factor of deformations

between the 35th-36th week of gestation, rapid increase in the size of the fetus outpaces the growth of the uterus

constellation of congenital anomalies that cannot be explained on the basis of a single, localized, initiating defect

most often caused by a single etiologic agent (e.g., viral infection, chromosomal abnormality) which simultaneously affects several tissues

Arise from gametogenesis (not familial) o Examples:

Down Syndrome and other trisomies

Turner Syndrome

Klinefelter syndrome

most common form of short limb dwarfism

gain-of-function mutations in fibroblast growth factor receptor 3 (which is a negative regulator of bone growth)

most common form of short limb dwarfism

gain-of-function mutations in fibroblast growth factor receptor 3 (which is a negative regulator of bone growth)

infection extends from shortly before conception to the 16th week of gestation

Hazard greater in the FIRST 8 weeks than in the second 8 weeks

most common fetal viral infection

highest at risk period: 2nd trimester of pregnancy

cause maternal hyperglycemia-induced fetal hyperinsulinemia or diabetic embryopathy

results in fetal macrosomia (organomegaly + increased body fat and muscle mass)

used as a tranquilizer

causes 50-80% of limb abnormalities in exposed fetus