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