DMSM 109 Chapter 5 Fetal Syndromes

DMSM 109 Chapter 5 Fetal Syndromes

Holdorf 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 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

Omphalocele Polycystic Kidney Disease 3. Trisomy 18 (Edwards 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 DandyWalker syndrome (DWS),

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 (

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. 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

Lymphedema, diffuse Lymphangiectasia, cystic hygroma Cardiac anomalies, aortic stenosis Horseshoe kidney, unilateral renal agenesis Turners 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 (Wilms Beckwith-Weideman

Syndrome Beckwith-Weideman Syndrome Wilms 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 Turners 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 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.

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