Chapter 58/59 wkbk: test 1

Question 1

Absent eyes

Answer 1

anophthalmia

Question 2

Absence of the nose

Answer 2

arrhinia

Question 3

Protrusion of the brain from the cranial cavity

Answer 3

cephalocele

Question 4

Premature closure of cranial sutures

Answer 4

craniosynostoses

Question 5

Cystic dilatation of the lacrimal sac at the nasocanthal angle

Answer 5

dacryocystocele

Question 6

Abnormal protrusion of the eyeball

Answer 6

exophthalmia

Question 7

Malformation of the lymphatic system that leads to single or multiloculated lymph-filled cavities around the neck

Answer 7

fetal cystic hygroma

Question 8

Enlargement of the thyroid gland

Answer 8

fetal goiter (thyromegaly)

Question 9

Congenital defect caused by an exter chromosome, which causes a deficiency in the forebrain

Answer 9

holoprosencephaly

Question 10

Eyes too far apart

Answer 10

hypertelorism

Question 11

Head smaller than the body

Answer 11

microcephaly

Question 12

Small chin

Answer 12

micrognathia

Question 13

Increased thickness in the nuchal fold area in the back of the neck associated with trisomy 21

Answer 13

nuchal lucency

Question 14

Hereditary disease caused by failure to oxidize an amino acid (phenylalanine) to tyrosine because of a defective enzyme; can lead to mental retardation

Answer 14

phenylketonuria (PKU)

Question 15

Underdevelopment of the jaw and cheek bone and abnormal ears

Answer 15

Treacher Collins syndrome

Question 16

Group of disorders having in common the coexistence of omphalocele, macroglossia, and visceromegaly

Answer 16

Beckwith-Wiedemann syndrome

Question 17

Cystic defect that arises from the primitive brachial apparatus

Answer 17

brachial cleft cyst

Question 18

Teratoma located in the oropharynx

Answer 18

epignathus

Question 19

Abnormal smallness of one side of the face

Answer 19

hemifacial microsomia

Question 20

Eyes too close together

Answer 20

hypotelorism

Question 21

Hypertrophied tongue

Answer 21

macroglossia

Question 22

microphthalmia

Answer 22

small eyes

Question 23

Underdevelopment of the eyes, fingers, and mouth

Answer 23

oculodentodigital dysplasia

Question 24

Underdevlopment of the jaw that causes the ears to be located close together toward the front of the neck

Answer 24

otocephaly

Question 25

Micrognathia, and abnormal smallness of the tongue, usually with a cleft palate

Answer 25

Pierre Robin sequence

Question 26

A cylindrical protuberance of the face that in cyclopia or ethmocephaly represents the nose

Answer 26

proboscis

Question 27

Eye disorder in which optic axes cannot be directed to the same object

Answer 27

strabismus

Question 28

Solid tumor

Answer 28

teratoma

Question 29

Premature closure of the metopic suture

Answer 29

trigonocephaly

Question 30

Condition associated with anencephaly in which there is complete or partial absence of the cranial bones

Answer 30

acrania

Question 31

Most severe form of holoprosencephaly characterized by a single common ventricle and a malformed brain

Answer 31

alobar holoprosencephaly

Question 32

Neural tube defect characterized by lack of development of the cerebral and cerebellar hemispheres and cranial vault; this abnormality is incompatible with life

Answer 32

anencephaly

Question 33

An abnormality or congenital malformation

Answer 33

anomaly

Question 34

Ventriculomegaly in the neonate; abnormal accumulation of cerebrospinal fluid within the cerebral ventricles resulting in compression and, frequently, destruction of brain tissue

Answer 34

cebocephaly

Question 35

Severe form of holoprosencephaly characterized by a common ventricle, fusion of the orbits with one or two eyes present, and a proboscis

Answer 35

cyclopia

Question 36

Increase in size of the jugular lymphatic sacs caused by abnormal development

Answer 36

cystic hygroma

Question 37

Range of abnormalities resulting from abnormal cleavage of the forebrain

Answer 37

holoprosencephaly

Question 38

Congenital absence of the cerebral hemispheres caused by occlusion of the carotid arteries; midbrain structures are present, and fluid replaces cerebral tissue

Answer 38

hydranencephaly

Question 39

Ventriculomegaly in the neonate; abnormal accumulation of cerebrospinal fluid within the cerebral ventricles resulting in compression and, frequently, destruction of brain tissue

Answer 39

hydrocephalus

Question 40

Enlargement of the fetal cranium as a result of ventriculomegaly

Answer 40

macrocephaly

Question 41

Open spinal defect characterized by protrusion of the spinal meninges

Answer 41

meningocele

Question 42

Open spinal defect characterized by protrusion of meninges and spinal cord through the defect, usually within a meningeal sac

Answer 42

meningomyelocele

Question 43

Neural tube defect of the spine in which the dorsal vertebrae fail to fuse together, allowing the protrusion of meninges and/or spinal cord through the defect

Answer 43

spina bifida

Question 44

Closed defect of the spine without protrusion of meninges or spinal cord

Answer 44

spina bifida occulta

Question 45

Abnormal accumulation of cerebrospinal fluid within the cerebral ventricles leading to dilatation of the ventricles; compression of developing brain tissue and brain damage may result; commonly associated with additional fetal anomalies

Answer 45

vetriculomegaly