Download Lecture 5 Syndromes

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SON 2121
LECTURE 5
FETAL SYNDROMES
Lecture 5
Fetal Syndromes
Outline
 There are hundreds of “syndromes” in the
medical literature. It is impossible to remember
them all.
 The following “syndromes” have appeared on
the ARDMS and ARRT registries in the past.
 NOTE: The first FOUR are ALWAYS on the
registries.
But first…Terminology:
 Sequence: A single defect leading to the
development of other defects
 Syndrome: The presence of two or more
embryologically unrelated anomalies occurring
together with relatively high frequency and
having the same etiology. Two or more
different organs or body areas must be
affected.
 Association: Non-random occurrence of two or
more defects occurring less frequently than in
a syndrome, but more frequently than by
chance alone. An example is the VACTERL
association
1. Amniotic Band Syndrome:
 Early disruption of the amnion may result in bands of
tissue that entrap/encircle portions of the fetal body
early in pregnancy. As the fetus grows, the nonstretchable bands restrict tissue growth. Multiple and
severe abnormalities may result including:
 Limb defects that include amputations, clubfeet
 Craniofacial defects that include asymmetric
anencephaly, encephalocele, facial clefting
 Visceral defects that include gastroschisis, ectopia
cordis
 Sonographic finding
 Presence of two or more of the defects listed
 Presence of multiple encephaloceles
 Id of an echogenic linear structure attached to the fetus
Amniotic Band Syndrome
Amniotic Band Syndrome
Amniotic Band – Encephalocele: Protrusion of the
brain and membranes through an opening in the
skull.
Amniotic Band Syndrome
Gastroschisis
Amniotic Band- Ectopia Cordis
2. Trisomy 13 (Patau’s Syndrome)
 A chromosomal abnormality with characteristic
facial abnormalities hexadactyly, psychomotor
retardation and multiple anatomic abnormalities
(85% die before one year)
 Sonographic findings




Holoprosencephaly
IUGR
Polyhydramnios
CNS anomalies including agenesis of the corpus
callosum
 Micrognathia, cleft lip/palate
 Omphalocele, Polycystic kidney disease and other GU
abnormalities.
Trisomy 13
Trisomy 13 Hexadactyly AKA Polydactyly: Many
fingers or toes.
Holoprosencephaly
Polyhydramnios
Agenesis of the Corpus
Callosum: flat bundle of
neural fibers beneath the
cortex in the brain that
connects the left and right
cerebral hemispheres and
facilitates interhemispheric communication.
Agenesis of the corpus
callosum
Agenesis of the Corpus
callosum: Teardrop shaped
lateral ventricle.
Micrognathia
Omphalocele
Polycystic Kidney Disease
3. Trisomy 18 (Edward’s Syndrome)
 A karyotype abnormality or primordial growth deficiency,
typical facial dysmorphia, profound psychomotor retardation
and other abnormalities
 Sonographic findings
 Clenched hand with finger/thumb crossover (clinodactyly)
 IUGR
 Polyhydramnios (3rd Trimester)
 VSD, ASD
 Choroid plexus cysts
 Micrognathia
 Dolichocephaly (Hatchet Head)
 Dandy-Walker malformation-enlarged cistern magna
 Limb malformations
 Diaphragmatic hernia
 Omphalocele
 Hydronephrosis
Trisomy 18
Clinodactyly
VSD
ASD
Choroid Plexus Cysts
Choroid plexus cyst
Dolichocephaly
Dandy-Walker Malformation
 Dandy–Walker syndrome (DWS), or Dandy–
Walker complex, is a
congenital brain malformation involving
the cerebellum and the fluid filled spaces
around it. A key feature of this syndrome is
the partial or even complete absence of the
part of the brain located between the two
cerebellar hemispheres (cerebellar vermis)
Dandy-Walker
Diaphragmatic Hernia
Hydronephrosis
4. Trisomy 21 (Down Syndrome)
 A malformation syndrome with mental retardation
and characteristic physical appearance.
 Sonographic findings
 Nuchal fold measuring >6mm between 15 and 21 weeks
 No other specific diagnostic findings for Down Syndrome.
Congenital anomalies associated with this may be the
following:








Thickened nuchal fold
Cystic hygroma
Mild ventriculomegaly
VSDs, ASDs
Duodenal atresia (double bubble)
Diaphragmatic hernia
Renal pyelectasis
Absent or small nasal bone
Trisomy 21
Cystic Hygroma
Ventriculomegaly
Duodenal Atresia
Duodenal atresia
Absent or small nasal bone
5. Turner’s Syndrome (XO Karyotype)
 A malformation syndrome attributed to
complete or partial absence of the X
chromosome in females. Prognosis depends
on extent of cardiac and renal abnormalities.
Pathology
 Lymphedema, diffuse
 Lymphangiectasia, cystic hygroma
 Cardiac anomalies, aortic stenosis
 Horseshoe kidney, unilateral renal agenesis
Turner’s syndrome
Turners syndrome
Lymphedema
Lymphangiectasia: a
pathologic dilation of lymph
vessels causing lymph edema.
6. Kleebattschadel Syndrome
Pathology
 Cloverleaf skull due to cranial synotosis (fusion of
two bones)
 Normally proportioned trunk and extremities
 Absence of other apparent malformation
Kleebattschadel Syndrome
 A birth defect characterized by abnormalities
of the skull and facial bones.
Cloverleaf skull
7. Holt-Oram Syndrome
 A heredity syndrome with malformations of
the HEART and
 UPPER EXTREMITIES.
Pathology
 Varied hand anomalies
 Cardiac septal defects
Holt-Oram Syndrome
8. Fetal Alcohol Syndrome
 Results from extensive alcohol intake. More
common in binge drinkers.
Pathology
 IUGR
 Mental deficiency
 Micorcephaly
 Microopthalmos
 Short metacarpals
 Cardiac septal defects
 Hypospadias, other genital anomalies
Fetal alcohol syndrome
Microcephaly
Microopthalmos
Short metacarpals
Hypospadias
9. Beckwith-Weideman Syndrome
 A group of congenital disorders characterized
by the presence of EMG anomalies
(Exomphalos (omphalocele) Macrogolssia
and gigantism.
 Cardiac malformations
 Placental enlargement
 Placental chorioangiomas
 Postnatal renal tumors (Wilm’s tumors)
Beckwith-Weideman Syndrome
Beckwith-Weideman Syndrome
Wilm’s Tumor
10. Pentalogy of Cantrell
 The association of two major defects:
Omphalocele and ectopia cordis. Three other
defects are also present involving the lower
sternum, the anterior diaphragm and the
pericardium.
Pathology
 Vertebral anomalies
 A and V septal defects
 Tetralogy of Fallot
 Trisomies 13 and 18
 Turner’s syndrome
 Two vessel cord
Tretralogy of Fallot
Three vessel cord
Two vessel cord
11. Meckel-Gruber Syndrome
 Related to autosomal recessive inheritance.
Pathology
 Encephalocele
 Polycystic kidneys
 Cleft lip
 Polydactyly
Meckel-Gruber Syndrome
12. Trecher-Collins Syndrome
(Mandibulofacial Dysotosis)
 An autosomal dominant disorder that affects
the ears, mandible and palate. Frequently
associated with congenital heart defects.
Pathology
 Small mandible
 Micrognathia (receding chin)
 Autosomal Trisomy
 Holoprosencephaly
13. Ellis-Van Creveld Syndrome
 Chondrodermal dysplasia. A high prevalence
among the Amish.
Pathology
 Polydactyly
 Thoracic dysplasia
 Mild-moderate limb shortening
 ASDs
What is chondrodermal
dysplasia AKA Ellis van
Creveld Syndrome
 It is a rare genetic disorder that affects bone
growth.
Thoracic dysplasia
14. VATER Association
 Often referred to as VACTERL association.
 Vertebral anomalies
 Anal atresia
 Cardiac anomalies
 Tracheo-esophageal atresia
 Renal and Radial ray anomalies
 Limb anomalies
Tracho-esophageal atresia
Small stomach/Polyhydramnios
Radial Ray
Radial Ray
HOMEWORK
Syndromes
1.Define Encephalocele.
2.What does the term “the face predicts the brain” mean?
3.Holoprosencephaly is characterized by a single midline ventricle. What other sonographic
findings are possible?
4.Dandy-Walker syndrome is the association of what three abnormalities?
5.List the sonographic features of Dandy-Walker syndrome.
6.Agenesis of the corpus callosum usually results from a chromosomal abnormality or a
chromosome translocation. What are the specific sonographic findings of agenesis of the
corpus callosum?
7.What are three distinctive features of gastroschisis?
8.What are three distinctive features of omphalocele?
9.What is Sirenomelia (mermaid syndrome)?
10.What is caudal regression syndrome?
11.Define hypertelorism.
12.Define hypotelorism.
13.List some of the defects that may be seen sonographically with amniotic band syndrome.
 An encephalocele is protrusion of intracranial contents through a bony
defect in the cranium. It may include meninges only, or meninges with
brain.
 The face predicts the brain refers to the associated facial defects that are
commonly found with Holoprosencephaly. While Holoprosencephaly may
vary in appearance with severity, or may be similar in appearance to
Hydranencephaly, evaluating for facial anomalies (for instance proboscis,
hypotelorism, or cyclopia) may help confirm the diagnosis.
 Other sonographic findings include:

fused thalami
 possibly a mantle of peripheral tissue around a midline ventricle
 associated cleft lip and cleft palate
 Interhemispheric fissure, but with variable degree of fusion and an absent
septum Pellucidum.
 Dandy-Walker syndrome is the association of

a large cisterna magna
 Ventriculomegaly of varying degree
 Cerebellar vermin agenesis, either complete or partial, through which the
4th ventricle communicates with the cystic structure in the posterior fossa.

Sonographic feature of Dandy-Walker syndrome include:

A large midline cystic structure in the posterior fossa, or enlargement of the posterior fossa.

Cerebellar hemispheres are separated and flattened, with varying degrees of Vermain dysgenesis

Associated ventriculomegaly and Polyhydramnios

The sonographic findings of agenesis of the corpus callosum are

absent Cavum septum Pellucidum

Lateral ventricular displacement upward and outward with a TEARDROP shape.

Enlarged occipital horns of the lateral ventricles

3ed. ventricular enlargement and displacement.

A gastroschisis is an anterior abdominal wall defect, with the following features:

loops of fetal bowel are seen floating within the abdominal cavity.

the umbilical cord insertion is seen adjacent to the defect

there is no membrane covering the herniation

An omphalocele is also an anterior abdominal wall defect, with the following features:

the mass may consist of bowel, liver and other abdominal viscera

the umbilical cord inserts directly into the defect

a membranous covering, the amniotic epithelium, covers the herniation.

Sirenomelia (mermaid Syndrome) is a fusion of the lower extremities, and abnormal or absent foot structures. It is associated
with bilateral renal agenesis (BRA) and skeletal anomalies.

Caudal regression syndrome includes a spectrum of skeletal anomalies of the lower spine and lower limbs such as sacral
agenesis, lumbar spine or even thoracic spine agenesis. There are associated anomalies of the GI and GU tracts, the CNS and
the heart.

Hypertelorism are orbits that are too far apart

Hypotelorism are orbits that are too close together.

Amniotic band syndrome may result in multiple, severe abnormalities which may include:

Limb defects (amputations, clubfeet, etc )

Craniofacial defects

Gastroschisis, ectopia cordis
Test next week
Successfully match the following with
choices of definitions
 Malformation
 Deformation
 Disruption
 Dysplasia
 Sequence
 Association
 Syndrome
Successfully match the following syndromes
with choices of images or definitions:
 Achondrogenesis
 Achondroplasia
 Amniotic band syndrome
 Apert syndrome
 Arnold-Chiari malformation
 Asphyxiating Thoracic Dysplasia
 Beckwith-Wiedemann Syndrome
 Campomelic dysplasia

Caudal Regression Syndrome

Charge Association (Tetralogy of Fallot)

Fetal Alcohol syndrome, fetal alcohol effects

Fetal Toxoplasmosis syndrome

Fetal varicella zoster

HELLP syndrome

Hereditary lymphedema I

Holoprosencephaly

Hyperplasic left heart syndrome

Klippel-trenaunay-weber syndrome

Lissencephaly

Meckel syndrome

Monosomy x (turner) syndrome

Osteogenesis imperfecta

Pentalogy of Cantrell

Prune-belly syndrome

Roberts syndrome

Sirenomelia

Thanatophoric dysplasia

Twin-to-twin transfusion syndrome
Lecture 5
Fetal Syndromes
Test Part I
Matching

Malformation ___________

Deformation ____________

Disruption ____________

Dysplasia _________

Sequence __________

Association _________

Syndrome __________
A pattern of multiple anomalies that results from a single anomaly
or mechanical factor.
B Abnormal form, shape, or position of part of the body caused by
mechanical forces antenatally, often as a result of intrauterine
molding or constraint.
C A morphologic defect of an organ, part of an organ, or larger
region of the body that results from an intrinsically abnormal
development process.
D A pattern of multiple anomalies thought to be pathogenetically
related and not known to represent a single sequence.
E An abnormal organization of cells into tissues and its
morphologic results. It is the process and consequence of
abnormal tissue formation.
F A nonrandom occurrence in two or more individuals of multiple
anomalies not know to be a sequence or syndrome
G A Morphologic defect of an organ, part of an organ, or larger
region of the body resulting from the breakdown of previously
normal tissue. It is caused by an extrinsic force or internal
interference with a developmental process or vascular insult.
Lecture 5
Fetal Syndromes
Test Part II
Matching

Achondrogenesis _____________

Achondroplasia _____________

Amniotic Band Syndrome _________

Apert syndrome ____________

Arnold-Chiari malformation _________
 Asphyxiating Thoracic Dysplasia ________
 Beckwith-Wiedemann Syndrome ________
 Campomelic Dysplasia ___________
 Caudal Regression Syndrome _________
 Charge Association (Tetralogy of Fallot) _________
 Fetal Alcohol Syndrome, fetal alcohol effects
_________
 Fetal Toxoplasmosis syndrome ___________
 Fetal varicella zoster ____________
 HELLP syndrome _____________
 Hereditary lymphedema I __________
 Holoprosencephaly ___________
 Hypoplastic left heart syndrome _______
 Lissencephaly ________
 Meckel syndrome ________
 Monosomy x (turner) syndrome _________

Osteogenesis imperfecta ___________

Pentalogy of Cantrell __________

Prune-belly syndrome _________

Roberts syndrome _____________

Sirenomelia _____________

Thanatophoric dysplasia __________

Twin-to-twin transfusion syndrome ___________
Addendum to the test

A . A severe variant of preeclampsia, characterized by hemolysis, elevated liver enzymes, and low
platelets.

B. Primary component is a congenital heart defect which is classically understood to involve four
anatomical abnormalities (although only three of them are always present). It is the most
common cyanotic heart defect, representing 55-70%, and the most common cause of blue baby
syndrome.

C . Encompasses several conditions, of which monosomy X is most common. It is a chromosomal
disorder affecting females in which all or part of one of the X chromosomes is absent. Occurring in
1 out of every 2500 girls, the syndrome manifests itself in a number of ways. There are
characteristic physical abnormalities, such as short stature, lymphoedema, broad chest, low
hairline, low-set ears, and webbed neck. Girls with TS typically experience gonadal dysfunction
with subsequent amenorrhea and infertility.

D. Characterized by multiple malformations, in particular symmetrical limb abnormality,
craniofacial anomalies, and severe mental and growth restriction.