US diagnoses

Question 1

Pentalogy of Cantrell

Answer 1

1) Midline Abdominal Wall Defect (omphalocele)
2) Lower sternal defect/cleft (ectopia cordis)
3) Anterior Diaphragmatic defect
4) Defect of diaphragmatic pericardium
5) Intracardiac defect

Question 2

Beckwith-Wiedemann Syndrome

Answer 2

Placental Mesenchymal Dysplasia
Hepatomegaly
Large Kidneys
Omphalocele
Macroglossia

Question 3

Tetralogy of Fallot

Answer 3

Pulmonic Stenosis
RVH
Overriting Aorta
Ventricular Septal Defect

Question 4

Ebstein’s Anomaly

Answer 4

Septal and posterior leaflets of TV are lowered into right ventricle (Atrialization of Right Ventricle)

Question 5

Truncus Arteriosus

Answer 5

Single Vessel (truncus) arises from heart and gives rise to Aorta and Pulmonary Arteries.

Question 6

Double Outlet Right Ventricle

Answer 6

Both great arteries arise predominantly from right ventricle.

Question 7

Atrioventricular Septal Defect

Answer 7

aka Endocardial Cushion Defect

Cardiac Defect involving atrial and ventricular septum, av valves and conducting system.

Question 8

Exencephaly, Anencephaly

Answer 8

Exencephaly: No calvarium eventually neural tissue wears away and becomes Anencephaly

Question 9

Cephalocele

Answer 9

Defect in skull and dura with protrusion of intracranial structures

Question 10

Agenesis of the Corpus Callosum

Answer 10

Failure of axons to cross midline and form corpus callosum. Seen as Absence of CSP, Texas Long horn shaped frontal horns, teardrop shaped ventricles, radial spoker wheel appearance of gyri to the area where CC is supposed to be

Question 11

Interhemispheric cyst

Answer 11

Intracranial cyst usually in in midline, smooth walled, anechoic. (AKA Ependymal Cyst)

Question 12

AVID

Answer 12

Asymmetric Ventriculomegaly, Interhemispheric Cyst and Dysgenesis of corpus callosum

Question 13

Aprosencephaly

Answer 13

absence of cerebrum and thalami / hypothalami, microcephaly and cerebrum replaced by fluid

Question 14

Atelencephaly

Answer 14

absence of cerebrum, replaced by fluid

Question 15

Alobar Holoprosencephaly

Answer 15

Complete lack of separation of cerebral hemispheres.
1st trimester: absence of butterfly sign, monoventricle
2nd/3rd trimester: Absence of midline structures (Corpus Callosum, Cavum Septum Pellucidum, Falx, 3rd ventricle), Monoventricle, Facial anomalies (Cyclopia)

Question 16

Semilobar Holoprosencephaly

Answer 16

Intermediate severity of holoprosesncephaly (HPE) due to partial cleavage of prosencephalon.
Absent CSP with incomplete interhemispheric fissure.

Question 17

Lobar Holoprosencephaly

Answer 17

Least severe form of holoprosencephaly (HPE), Interhemispheric fissure present along entire midline (cerebrum separate)

Question 18

Septo-Optic Dysplasia

Answer 18

Optic Nerve Hypoplasia
Midline Brain Malformation
+/- Hypopituitarism

Question 19

Syntelencephaly

Answer 19

Variant of holoprosencephaly, midline fusion of posterior frontal and parietal lobes.
Absence of CSP.

Question 20

Schizencephaly

Answer 20

Cleft extending from brain surface to ventricle
Closed Lip (type 1):
Opened lip (type 2):

Question 21

Lissencephaly

Answer 21

Smooth brain surface

Question 22

2 Syndromes associated with Lissencephaly?

Answer 22

Miller Dieker, Walker Warburg

Question 23

Dolicocephaly

Answer 23

Flattening of the head (due to compression)

Question 24

Brachycephaly

Answer 24

Very round head

Question 25

Lemon Sign

Answer 25

Pointed ends of cranium (think Spina bifida)

Question 26

Cystic Hygroma

Answer 26

Irregular septated area by neck

Question 27

Craniosynostosis

Answer 27

Irregular shaped cranium due to premature closure of sutures

Question 28

Banana Sign

Answer 28

Cerebellum shaped like a banana, think spina bifida