OB Chapter 64 Test & Matching
Sonographic features of achondroplasia may not be evident until after __ gestational weeks.
22
A lethal autosomal-recessive short limbed dwarfism that may demonstrate flipper-like appendages.
Achondrogenesis
Caused by cartilage abnormalities that result in abnormal bone formation and hypomineralization.
Achondrogenesis
Lethal autosomal recessive short-limb dwarfism marked by long-bone and trunk shortening, decreased echogenicity of the bones and spine, and flipper-like appendages.
Achondrogenesis
A defect in the development of the cartilage at the epiphyseal centers of the long bones producing short, square bones.
Achondroplasia
The most common non-lethal skeletal dysplasia.
Achondroplasia
Congenital absence of one or more extremities.
Amelia
Which of the following is not a characteristic of Thanatophoric Dysplasia? A.)Cloverleaf skull B.) Microcephaly C.) Extreme Micromelia D.) Short ribs
B.) Microcephaly
Which of the following is a decreased mineralization of the bone? A.) Achondroplasia B.) Osteogenesis Imperfecta C.) Achondrogenesis D.) Thanatophoric Dysplasia
B.) Osteogenesis Imperfecta
Which of the following is NOT true about achondroplasia? A.) Advanced maternal age is a risk factor B.) Patients with heterozygous achondroplasia have a poor survival rate. C.) Achondroplasia is most commonly the result of a spontaneous mutation. D.) Achondroplasia results from decreased endochondral bone formation.
B.) [Patients with HOMOZYGOUS achondroplasia have a poor survival rate.]
Bending of the bone.
Camptomelia
A group of lethal skeletal dysplasias characterized by bowing of the long bones.
Camptomelic Dysplasia
A range of abnormalities of the caudal end of the neural tube.
Caudal Regression Syndrome
Overlapping digits.
Clindactaly
An anomaly caused by an alkaline phosphatase deficiency.
Congenital Hypophosphatasia
Early ossification of the calvarium with destruction of the sutures; hypertelorism frequently found in association; sonographically the fetal cranium may appear brachycephalic.
Craniosynostosis
Which of the following is associated with cloverleaf skull? A.)Achondroplasia B.) Congenital Hypophosphatasia C.) Osteogenesis Imperfecta D.)Thanatophoric Dysplasia
D.) Thanatophoric Dysplasia
Which syndrome, or anomaly, is associated with micromelia and a hitchhiker thumb?
Diastrophic Dysplasia
Which anomaly is associated with the Amish community?
Ellis-van Creveld Syndrome
Short-limb dysplasia that manifests in the second trimester of pregnancy; conversion abnormality of cartilage to bone affecting the epiphyseal growth center; extremities are notably shortened at birth, with a normal trunk and frequent enlargement of the head.
Heterozygous Achondroplasia
Short-limb dwarfism affecting fetuses of achondroplastic parents.
Homozygous Achondroplasia.
Congenital condition characterized by decreased mineralization of the bones resulting in ribbon-like and bowed limbs, underossified cranium, and compression of the chest; early death often occurs.
Hypophosphatasia
The most manifest predictor of lethality is the finding of:
Hypoplastic thorax
The majority of talipes are __________.
Idiopathic. May be due to crowding or oligohydramnios.
Sonographic features of: small thorax, rhizomelia, renal dysplasia, and polydactyly is associated with which syndrome?
Jeune's Syndrome
Webbing across the joints and multiple contractures are sonographic findings of:
Lethal Multiple Pterygium Syndrome
Shortening of the middle bone segments.
Mesomelia
Sonographic findings of: severe micromelia, decreased/absent ossification of the spine, macrocephaly, and micrognathia describes ____________ __________.
Osteogenesis Imperfecta
What's the most likely diagnosis of a fetus with multiple fractures and a compressible calvarium?
Osteogenesis Imperfecta
Metabolic disorder affecting the fetal collagen system that leads to varying forms of bone disease; intrauterine bone fractures, shortened long bones, poorly mineralized calvaria, and compression of the chest found in type II forms.
Osteogenesis imperfecta
Which anomaly has the same ultrasound characteristics as Trisomy 18?
Pena-Shokeir
What is the sonographic criteria to diagnose talipes?
Persistent abnormal inversion of the foot perpendicular to the lower leg. (The foot is turned inward).
Shortening of the limbs so that hands and feet arise near the trunk.
Phocomelia
Extra digits.
Polydactyly
Shortening of the proximal bone segment.
Rhizomelia
Shortening of the proximal portion of the extremity is termed:
Rhizomelia
A rare condition characterized by phocomelia & facial anomalies.
Robert's Syndrome
Foot characterized by a prominent heel and convex sole.
Rocker-bottom feet
Shortening of both proximal and middle extremities.
Severe Micromelia
A lethal skeletal dysplasia characterized by short ribs, short limbs, and polydactyly.
Short rib polydactyly
An anomaly in which there is fusion of the lower extremities.
Sirenomelia
The term used to describe abnormal growth and density of cartilage and bone.
Skeletal dysplasia
Lobster-claw deformity of the hand.
Split hand
Fused digits.
Syndactyly
Clubfoot; deformities of the foot and ankle.
Talipes
Lethal short-limb dwarfism characterized by notable reduction in the length of the long bones, pear-shaped chest, soft tissue redundancy, and frequently cloverleaf skull deformity and ventriculomegaly.
Thanatophoric Dysplasia
The most common lethal skeletal dysplasia.
Thanatophoric Dysplasia
Which classification of osteogenesis imperfecta is considered to be the most severe?
Type II