fetal spine and bone

The sonographic features of achondroplasia may not be evident until after _____ weeks' gestation.

22

A protein produced by the yolk sac and fetal liver that is found in excess in the maternal circulation in the presence of a neural tube defect is:

AFP

Sonographic findings of severe micromelia, decreased or absent ossification of the spine, macrocephaly, and micrognathia describe which one of the following conditions?

Achondrogenesis

Which one of the following conditions is caused by cartilage abnormalities that result in abnormal bone formation and hypomineralization?

Achondrogenesis

A disorder that results in abnormal bone growth and dwarfism is:

Achondroplasia

The disorder associated with fetal amputations is:

Amniotic band syndrome

The lemon sign denotes

An abnormal shape of the fetal skull

A group of lethal skeletal dysplasias characterized by bowing of the long bones is which one of the following abnormalities?

Camptomelic dysplasia

In VACTERL association, the letter "C" stands for:

Cardiac

An absent sacrum and coccyx is referred to as:

Caudal regression syndrome

Talipes equinovarus is associated with:

Clubfoot

The abnormal lateral ventricle shape in which there is a small frontal horn and enlarged occipital horn is referred to as:

Colpocephaly

All of the following are clinical or sonographic findings consistent with LBWC except:

Decreased MSAFP

Which one of the following anomalies is associated with micromelia and a "hitchhiker thumb"?

Diastrophic dysplasia

All of the following are characteristics of spina bifida occulta except:

Elevated MSAFP

Which one of the following anomalies is associated with the Amish community?

Ellis-van Creveld syndrome

All of the following are associated with spina bifida except:

Enlarged posterior fossa

What is the maternal dietary supplement that has been shown to significantly reduce the likelihood of the fetus suffering from a neural tube defect?

Folate

Achondroplasia is associated with all of the following except:

Frontal bossing

What is the anomaly of the spine in which there is absence of all or part of a vertebral body and posterior element?

Hemivertebra

Sonographic features of a small thorax, rhizomelia, renal dysplasia, and polydactyly are associated with which one of the following conditions?

Jeune syndrome

Webbing across the joint and multiple contractures are sonographic findings of which one of the following abnormalities?

Lethal multiple pterygium syndrome

The thalamic tissue located within the third ventricle of the brain that can become enlarged with Arnold-Chiari II malformation is the:

Massa intermedia

All of the following are characteristic sonographic findings of achondrogenesis except:

Multiple dislocated joints

All of the following are characteristics of spina bifida cystica except:

Normal MSAFP

A bell-shaped chest and multiple fetal fractures are indicative of:

Osteogenesis imperfecta

A congenital condition characterized by a disorder of collagen production is which one of the following?

Osteogenesis imperfecta

Which one of the following diagnoses is most likely when multiple fractures and a compressible calvarium are identified?

Osteogenesis imperfecta

Which one of the following statements about achondroplasia is incorrect?

Patients with heterozygous achondroplasia have a poor survival rate.

A diagnosis of talipes may be made with which one of the following characteristics?

Persistent abnormal inversion of the foot perpendicular to the lower leg

Absent long bones with the hands and feet arising from the shoulders and hips describes:

Phocomelia

Which of the following would increase the likelihood of a fetus developing sirenomelia and caudal regression syndrome?

Preexisting maternal diabetes

Absence of the radius is referred to as:

Radial ray defect

Which one of the following terms describes a shortening of the proximal portion of the extremity?

Rhizomelia

All of the following are signs of Arnold-Chiari II malformation except:

S-shaped spine

The exaggerated distance between the first toe and the second toe is:

Sandal gap

The abnormal lateral curvature of the spine is referred to as:

Scoliosis

A lethal skeletal dysplasia characterized by short ribs, short limbs, and polydactyly is which one of the following?

Short-rib polydactyly

Rhizomelia denotes:

Shortening of the proximal segment of a limb

What term is defined as fusion of the digits?

Syndactyly

All of the following are associated with amniotic band syndrome except:

Synechiae

The most common lethal skeletal dysplasia is which one of the following conditions?

Thanatophoric dysplasia

Which one of the following anomalies is associated with a cloverleaf skull?

Thanatophoric dysplasia

Which of the following is true for the diagnosis of clubfoot?

The metatarsals and toes lie in the same plane as the tibia and fibula.

The majority of talipes is _______________.

idiopathic

All of the following are characteristics of thanatophoric dysplasia except:

microcephaly.

A rare condition characterized by phocomelia and facial anomalies is which one of the following syndromes?

roberts