KEY FACTS Terminology • Complex genetic disorder with principle features including macrosomia, macroglossia, and omphalocele Imaging • Macroglossia most consistent finding ○ Persistent protruding tongue throughout exam with inability to…
KEY FACTS Terminology • Lethal skeletal dysplasia ○ Thanatophoric is Greek for death bearing • Divided into 2 subtypes based on morphologic findings Imaging • Features seen in both TD1…
KEY FACTS Terminology • Disorders of sexual development (DSD) • Most common DSD if karyotype is XY (male) ○ Hypospadias: Urethra opens on underside of penis ○ Epispadias (less common):…
KEY FACTS Terminology • Syndrome composed of classic triad of findings ○ Renal cystic dysplasia in 95-100% ○ Encephalocele or other central nervous system (CNS) abnormality in 90% ○ Postaxial…
KEY FACTS Terminology • Membranes insert on fetal surface of placenta instead of along edge ○ Edges not “tacked down” & curl away from uterine wall Imaging • Edge of…
KEY FACTS Terminology • Lethal skeletal dysplasia with 3 clinical subtypes ○ Type IA (poorly ossified skull, unossified spine) ○ Type IB (poorly ossified skull, rib fractures) ○ Type II…
KEY FACTS Terminology • Abnormality of renal fusion &/or ascent Imaging • Horseshoe kidney (fused lower poles) ○ Isthmus = central bridging tissue – Isthmus is anterior to aorta ○…
KEY FACTS Terminology • Incomplete uterine evacuation with retention of placental/trophoblastic tissue within endometrial cavity Imaging • Solid, heterogeneous, echogenic mass ○ Early loss often has small cystic areas ○…
KEY FACTS Terminology • Newborn with birth weight > 4,000 or 4,500 g (10 lb) • Fetus is considered at risk for macrosomia if estimated fetal weight (EFW) is >…
KEY FACTS Terminology • Genetically and clinically, heterogeneous group of connective tissue disorders presenting with osteoporosis and fractures ○ 90% of cases due to abnormalities in type I collagen •…
