Test 4 Fetal face & neck WB EX 1,2

Question 2

absent eyes

Answer 2

anophthalmia

Question 3

absence of the nose

Answer 3

arhinia

Question 4

group of disorders having in common the coexistence of an omphalocele (intestines outside of abdomen), macroglossia (abnormally large tongue), and visceromegaly (large abdominal organs)

Answer 4

beckwith-wiedemann syndrome

Question 5

a cystic defect that arises from the primitive brachial apparatus

Answer 5

branchial cleft cyst

Question 6

protrusion of the brain from the cranial cavity

Answer 6

cephalocele

Question 7

premature closure of the cranial structures

Answer 7

craniosynostosis

Question 8

cystic dilatation of the lacrimal sac at the nasocanthal angle

Answer 8

dacryoscystocele

Question 9

taratoma located in the oropharynx

Answer 9

epignathus

Question 10

abnormal protrusion of the eyeball

Answer 10

exophthalmia

Question 11

malformation of the lymphatic system that leads to single or mutliloculated lymph-filled cavities around the neck

Answer 11

fetal cystic hygroma

Question 12

enlargement of the thyroid gland

Answer 12

fetal goiter (thyromegaly)

Question 13

abnormal smallness of one side of the face

Answer 13

hemifacial microsomia

Question 14

congenital defect caused by an extra chromosome, which results in a deficiency in the forebrain

Answer 14

holoprosencephaly

Question 15

eyes to far apart

Answer 15

hypertelorism

Question 16

eyes too close together

Answer 16

hypotelorism

Question 17

hypertrophied tongue

Answer 17

macroglossia

Question 18

head smaller than body

Answer 18

microcephaly

Question 19

small chin

Answer 19

micrognathia

Question 20

small eyes

Answer 20

microphthalmia

Question 21

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

Answer 21

nuchal lucency

Question 22

underdevelopment of the eyes, fingers, and mouth

Answer 22

oculodentodigital dysplasia

Question 23

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

Answer 23

otocephaly

Question 24

hereditary disease caused by failure to oxidize an amnio acid to tyrosine because of a defective enzyme; if PKU is not treated early, mental retardation can develop

Answer 24

phenylketonuria (PKU)

Question 25

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

Answer 25

Pierre robin syndrome

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

underdevelopment of the jaw and cheekbone and abnormal ears

Answer 29

treacher collins syndrome

Question 30

premature closure of the metopic suture (runs down center of forehead)

Answer 30

trigonocephaly