Fetus Anomalies Flashcards
Meckel-Gruber Syndrome
Associated w/ occipital encephalocele & polycystic kidney disease
Arnold-Chiari malformation
Open spina bifida, lemon head, banana cerebellum, elevated AFP
VACTERL
Vertebral, Anorectal atresia, Cardia, Tracheoesophageal, Esophogeal, Renal, Limbs
Achondroplasia (Dwarfism)
Frontal bossing, macroglossia, macrocrania, trident hand (space between 3-4finger)
Common lethal dysplasia
Thanatophoric dysplasia
Thanatophoric dysplasia
Craniosynostosis (premature fusion of cranial sutures), cloverleaf skull shape
Trisomy 13 / Patua syndrome
Talipes equinovarus (clubfoot) , holopro (fused thalami, monoventricle) , facial defects, omphalocele,
Most common non-lethal dysplasia
Heterozygous Achondroplasia
Amniotic band syndrome
causes fetal amputations, clefts facial defects,
Rhizomelia
Proximal limb is shorter than the distal limb
Duodenal atresia
“double bubble sign” fluid fill stomach and fluid filled prox duodenum
Omphalocele
midline, smooth, with covering of the intestines
Most common cause of oligohydramnios
Renal abnormalities
Most common level of obstruction for fetal hydronephrosis
UPJ
Turners syndrome / Monosomy X
Related to hydrops, cystic hygroma