The Fetal Spine and Musculoskeletal System Vocabulary

Question 1

Rare, lethal condition resulting in abnormal development of the bones and cartilage

Answer 1

Achondrogenesis

Question 2

A disorder that results in abnormal bone growth and dwarfism

Answer 2

Achondroplasia

Question 3

Group of abnormalities associated with the entrapment of fetal parts in the amnion, often resulting in fetal amputations or clefting

Answer 3

Amniotic Band Syndrome

Question 4

No amniotic fluid

Answer 4

Anhydroamnios

Question 5

Includes bones of the upper extremities, lower extremities, and pelvic girdle

Answer 5

Appendicular Skeleton

Question 6

A way in which a disorder or trait can be inherited by a fetus; at least one of the parents has to be a carrier of the gene for the disease

Answer 6

Autosomal Dominant Disorder

Question 7

Includes the bones of the cranium and spine

Answer 7

Axial Skeleton

Question 8

Syndrome associated with then absence of the sacrum and coccyx; also referred to as sacral agenesis

Answer 8

Caudal Regression Syndrome

Question 9

Protrusions of intracranial contents through a defect in the skull

Answer 9

Cephalocele

Question 10

The abnormal shape of the cranium caused by premature fusion of the sutures in which there is frontal bossing and a cloverleaf shape to the skull

Answer 10

Cloverleaf Skull

Question 11

A malformation of the bones of the foot in which the foot is most often inverted and rotated medially, and the metatarsals and toes lie in the same plane as the tibia and fibula

Answer 11

Clubfoot

Question 12

Abnormal short stature

Answer 12

Dwarfism

Question 13

Denotes the abnormal development of a structure

Answer 13

Dysplasia

Question 14

Protrusion of brain tissue through a defect in the skull

Answer 14

Encephalocele

Question 15

The angling of the frontal bones that produces an unusually prominent forehead

Answer 15

Frontal Bossing

Question 16

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

Answer 16

Hemivertebra

Question 17

Most common nonlethal skeletal dysplasia that is characterized by rhizomelia

Answer 17

Heterozygous Achondroplasia

Question 18

The fatal form of achondroplasia

Answer 18

Homozygous Achondroplasia

Question 19

The combination of both scoliosis and kyphosis in the fetus

Answer 19

Kyphoscoliosis

Question 20

An abnormal posterior curvature of the spine

Answer 20

Kyphosis

Question 21

A group of disorders with sonographic findings including a short or absent umbilical cord, ventral wall defects, limb defects, craniofacial defects, and scoliosis

Answer 21

Limb-Body Wall Complex

Question 22

The coverings of the brain and spinal cord

Answer 22

Meninges

Question 23

Herniation of the cranial or spinal meninges because of an open cranial or spinal defect; contains cerebrospinal fluid but no nerve tissue

Answer 23

Meningocele

Question 24

Mass that results from an open spina bifida that contains the spinal cord and the meninges; also referred to as a myelomeningocele

Answer 24

Meningomyelocele

Question 25

Mass that results from open spina bifida that contains spinal cord only

Answer 25

Myelocele

Question 26

A group of disorders that result in multiple fractures in utero; caused by decreased mineralization and poor ossification of the bones

Answer 26

Osteogenesis Imperfecta

Question 27

Absence or underdevelopment of the radius

Answer 27

Radial Ray Defect

Question 28

Shortening of the proximal segment of the limb

Answer 28

Rhizomelia

Question 29

The nondevelopment of the sacrum

Answer 29

Sacral Agenesis

Question 30

An opening in the skin over the distal spine

Answer 30

Sacral Dimple

Question 31

An abnormal lateral curvature of the spine

Answer 31

Scoliosis

Question 32

A fetal abnormality characterized by fusion of the lower extremities, renal agenesis, and oligohydroamnios; may also be referred to as mermaid syndrome

Answer 32

Sirenomelia

Question 33

Most common form of spina bifida; results in open lesions that are typically not covered by skin and a mass that protrudes from the spine; also referred to as open spina bifida

Answer 33

Spina Bifida Aperta

Question 34

Closed spinal lesions that are completely covered by skin and can be difficult to identify sonographically; also referred to as closed spina bifida

Answer 34

Spina Bifida Ocuclta

Question 35

A group of neural tube defects that describe some manifestation of incomplete closure of the spine

Answer 35

Spinal Dysraphism

Question 36

Turned outward

Answer 36

Splay

Question 37

Most common lethal skeletal dysplasia characterized by a cloverleaf skull with frontal bossing and hydrocephalus

Answer 37

Thanatophoric Dysplasia

Question 38

A wide separation between the middle and ring finger

Answer 38

Trident Hand

Question 39

An acronym for a combination of abnormalities that represent vertebral anomalies, anorectal atresia, cardigan anomalies, tracheoesophageal fistula, renal anomalies, and limb anomalies

Answer 39

VACTERL Association