Turner Syndrome (45,X)
KEY FACTS Terminology • Monosomy X is preferred term • Definition: Complete or partial deficiency of X chromosome Imaging • Cystic hygroma (CH) is hallmark finding ○ Large back of…
Sirenomelia
KEY FACTS Terminology • Synonym: Mermaid syndrome • Definition: Lower extremity fusion + other skeletal, gastrointestinal, and genitourinary abnormalities Imaging • Fused lower extremities (variable amount of fusion) ○ Severe…
Echogenic Kidneys
KEY FACTS Imaging • Multiple causes; can be isolated or syndromic • Autosomal recessive polycystic kidney disease is single gene disorder ○ Large, diffusely hyperechoic kidneys most common ○ May…
Succenturiate Lobe
KEY FACTS Terminology • Succenturiate lobe (SL): 1 or more accessory placental lobes connected by submembranous fetal vessels Imaging • 2 or more separate placentas ○ Color Doppler shows connecting…
Placental Abruption
KEY FACTS Terminology • Placenta detachment ○ Most often partial and can see hematoma • Categorized by location of abruption Imaging • Marginal abruption (most common) ○ Hemorrhage from edge…
Clubfoot and Rocker-Bottom Foot
KEY FACTS Terminology • Clubfoot (talipes equinovarus) ○ Foot is turned in at ankle (varus) ○ Foot is pointed (equina) • Rocker-bottom foot (congenital vertical talus) ○ Back of foot…
Conjoined Twins
KEY FACTS Terminology • Fetal fusion of variable degree • Nomenclature ○ Site of fusion + suffix “pagus” – Omphalopagus : Abdomen fused from xiphoid to umbilicus, heart not involved…
Abnormal Hand
KEY FACTS Imaging • Polydactyly ○ 1 or more extra digits or parts of digits ○ May be preaxial (thumb side) or postaxial (pinky side) ○ Nonsyndromal: May be isolated…
Vertebral Column and Spinal Cord
IMAGING ANATOMY Vertebral Bodies • Ossified vertebral body appears echogenic ○ Cartilaginous tip at spinous process appears hypoechoic • Cervical : Upper 7 vertebrae ○ C1 (atlas): No body, spinous…
