What is a sequence?
single defect leading to development of other defects
pg. E 212
What is a syndrome?
presence of 2+ embryologically unrelated anomalies occurring together. 2+ body regions are affected
pg. E 212
What is an association?
nonrandom occurence of 2+ defects
pg. E 212
What is amniotic band syndrome?
ruptured amnion sticks and entangles fetal parts
pg. E 212
What is the most severe condition if amniotic band syndrome is present?
limb-body wall complex
pg. E 212
What is limb-body wall complex?
fetal scoliosis
evisceration (abdominal organs taken out)
Short or no umbilical cord
pg. E 212
What defects are associated with amniotic band syndrome?
abdominal wall defects clubfeet ectopia cordis encephalocele extremity amputations facial clefts facial dysmorphia pg. E 212
What are the sonographic findings of amniotic band syndrome?
echogenic amniotic bands attached to fetus
at least 2 of the listed defects
pg. E 212 O 403
What is another name for Trisomy 13?
Patau syndrome
pg. E 213 O 402
What is the prognosis for Trisomy 13?
poor, 85 % die w/in first year
pg. E 213
What are the classifications for Trisomy 13?
Holoprosencephaly* Agenesis of the corpus callosum Microcephaly Cleft lip/palate Club foot Polydactyly IUGR Omphalocele Single umbilical artery Renal anomalies pg. E 213
What is another name for Trisomy 18?
Edward’s syndrome
pg. E 213
What is the prognosis of Trisomy 18?
90% die within first year
pg. H 1200 E 213
What are the classifications for Trisomy 18?
Rocker bottom feet* Strawberry shape Dolichocephaly Diaphragmatic hernia Esophageal atresia Hydrocephalus Choroid plexus cysts Clenched hands/clinodactyly pg. E 213
What characteristics are the same in Trisomy 13, 18, 21?
Heart defects
Omphalocele
Cystic Hygroma
pg. E 213-214
What is the term for Trisomy 21?
Down Syndrome
pg. E 214
What is the most common chromosomal disorders?
Trisomy 21
pg. H 1198
What are the characteristics of Trisomy 21?
Nuchal fold > 6mm Brachycephaly Sandal toe deformity Hydrothorax Echogenic foci in heart Clinodactyly Flattened nose Duodenal atresia pg. E 214
What is another term for Turner’s syndrome?
Monosomy X
pg. E 214
What is Turner’s syndrome?
complete or partial absence of the X chromosome
pg. E 214
What gender can develop Turner’s?
female
pg. E 214
What are the characteristics of turners?
Cystic hygroma Lymphedema Non-immune hydrops Cardio defects Renal agenesis pg. E 214
What is Beckwith-Weidmann syndrome?
Fetus with 3 characteristics present: Omphalocele Macrosomia Macroglossia pg. E 215
What is the Pentalogy of Cantrell?
Congenital disorder with at least 2 of the following defects
- Cleft distal sternum
- Diaphragmatic
- Omphalocele
- Pericardium
- Ectopia cordis
pg. H 1335
What is Meckel-Gruber syndrome?
Autosomal recessive condition with these 3 characteristics: Encephalocele Polydactyly Polycystic kidneys pg. E 215 H 1294
What is involved with the VACTERL association?
Vertebral anomalies Anal atresia Cardiac anomalies Tracheal atresia Esophageal atresia Renal anomalies Limb deformities pg. E 215
What are the characteristics of Fetal Alcohol Syndrome?
IUGR mental deficiency microcephaly microopthalmos cardiac septal defects genital anomalies pg. E 216
What is Holt-Oram Syndrome?
hereditary syndrome of malformations of heart and upper extremities
pg. E 216
What is Noonan syndrome?
Genetic disorder which includes: Facial anomalies Cardiac anomalies Lymphedema Cystic hygroma pg. E 216
What is Treacher-Collins syndrome?
autosomal dominant disorder that is associated with: small mandible micrognathia autosomal trisomy holoprosencephaly pg. E 216
What syndrome is highly associated with Amish?
Ellis-Van Creveld Syndrome
pg. E 216
What are the characteristics of Ellis-Van Creveld Syndrome?
polydactyly narrow thorax limb shortening heart defects pg. E 216
What is another name for Ellis-Van Creveld syndrome?
Chondroectodermal dysplasia
pg. E 216
What are radial ray anomalies associated with?
Trisomy 18
Holt Oram syndrome
Amniotic band syndrome
URR Exam
What are the characteristics of Chiari II malformation?
Obliteration of cisterns magna
Lemon sign
Banana sign
What type of twins is associated with “twin peak” sign?
Diamniotic/dichorionic