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DMS333_CA7

Fetal anomalies

QuestionAnswer
T or F: fetal renal tumors are rare. True
What is mesoblastic nephroma? Large, single, solid mass originating from the kidney; appears as isoechoic or hypoechoic to kidney parenchyma.
What is ambiguous genitalia? The sonographic finding that describes the inability to delineate fetal gender.
What is true hermaphroditism? A rare condition in which both ovarian and testicular tissues are present. The internal and external genitalia are variable.
What is false pseudohermaphrodism? The female fetus with pseudohermaphrodism has a 46,XX karyotype.
What is the most common fetal mass in female fetuses? Ovarian cysts
What is skeletal dysplasia? The term used to describe abnormal growth and density of cartilage and bone.
What abnormality of the fetal skeleton occurs secondary to skeletal dysplasia? Dwarfism
What is rhizomelia? Shortening of the proximal bone segment (humerus and femur).
What is mesomelia? This refers to the shortening of the middle segment, radius/ulna and tibia/fibula.
What is Micromelia? This describes the shortening of the entire extremity.
What is hypophosphatasia? A condition that presents with diffuse hypomineralization of the bone caused by an alkaline phosphate deficiency.
What is diastrophic dysplasia? This is a rare disorder characterized by micromelia, talipes, cleft palate, micrognathia, scoliosis, short stature, earlobe deformities, and hand abnormalities.
What is thanatophoric dysplasia? This type of dysplasia is the most common lethal skeletal dysplasia and occurs in one and 4000 to 10,000 birds.
What are the two main subdivisions of thanatophoric dysplasia? Type I, which is characterized by short, curved femurs and flat vertebral bodies. Type II, which is characterized by straight, short femurs, flat vertebral bodies, and a cloverleaf school
What is achondroplasia? The most common nonlethal skeletal dysplasia and occurs in 2.53 of every 100,000 births. Resulting from decreased endochondral bone formation, which produces, short, squat bones.
What is heterogeneous achondroplasia? A type of fetal skeletal malformation inherited from one parent, has a good survival rate with normal intelligence and a normal lifespan.
What is homozygous achondrodysplasia? A type of fetal skeletal malformation inherited from two parents, is considered lethal, with most infants dying shortly after birth from respiratory complications.
What is Osteogenesis imperfecta? This is a rare disorder of collagen production leading to brittle bones; manifestations in the teeth, skin, and ligaments; and blue sclera.
What is the VACTERL association? The VACTERL association is a group of anomalies that may occur together. In this sporadic group of anomalies, vertebral defects, anal atresia, cardiac anomalies, tracheo esophageal fistula, renal anomalies, and limb dysplasia may occur in combination.
Created by: mommy2bca