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 firstTerminology: 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 non-stretchable 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 (Pataus 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
or DandyWalker 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 (
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. Turners 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
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:
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 _________
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 anatomi cal abnormalities (although only three of them are always present). It is the m ost 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 i n which all or part of one of the X chromosomes is absent. Occurring in 1 out of every 2500 girls, the syndrom e manifests itself in a number of ways. There are characteristic physical abnor malities, such as
short stature, lymphoedema, broad chest, low hairline, low-set ears, and webbed neck. Girls with TS typically experience gonadal dysfunction with subs equent amenorrhea and infertility.
Integers: Comparing and Ordering EQ How do we compare and order rational numbers? Rational Numbers Rational Numbers Integers Fractions/Decimals Whole Numbers (Positive Integers) Negative Integers Rational numbers Numbers that can be written as a fraction.
alexander graham bell assoc fo. brit j dev disabil. 0969-7950. british soc developmental disa. am ann deaf. 0002-726x. american annals of the deaf. int j rehabil res. 0342-5282. otjr-occup part heal. 1539-4492. sex disabil. 0146-1044. j rehabil. 0022-4154. natl rehabilitation...
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