Clinical/Sonographic Findings

Question 1

SF:
- cloverleaf skull
- bowed femurs
- micromelia
- hypoplastic thorax
- hypomineralization
- polyhydramnios

Answer 1

Thanatophoric dysplasia

Question 2

SF:
- lack of vertebral ossification
- micromelia
- hypoplastic thorax
- polyhydramnios
- cleft lip/palate
- micrognathia

Answer 2

Achondrogenesis

Question 3

SF:
- fractures or “thick” bones due to callus formation
- micromelia
- hypoplastic thorax
- multiple rib fractures
- hypomineralization

Answer 3

Osteogenesis Imperfecta, Type II

Question 4

SF:
- “bent” long bones
- narrow thorax
- associated CNS and renal anomalies

Answer 4

Campomelic Dysplasia

Question 5

SF:
- rhizomelia
- normal FL length until 20 weeks
- trident hand
- macrocrania
- frontal bossing

Answer 5

Heterozygous Achondroplasia

Question 6

SF:
- cleft lip
- omphalocele
- ectopia cordis
- skeletal anomaly

Answer 6

Amniotic band syndrome

Question 7

SF:
- hepatomegaly
- ascites
- multiple echogenic foci in liver

Answer 7

Toxoplasmosis infection

Question 8

SF:
- MCDK
- encephalocele
- polydactyly
- microcephaly

Answer 8

Meckel Gruber Syndrome

Question 9

SF:
- Asymmetric IUGR
- DWM
- Flow reversal in ductus venosus

Answer 9

Triploidy