Chapter 58

Question 1

absent eyes

Answer 1

anophthalmia

Question 2

absence of the nose

Answer 2

arhinia

Question 3

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

Answer 3

Beckwith-Wiedmann syndrome

Question 4

a cystic defect that arises from the primitive branchial apparatus

Answer 4

branchial cleft cyst

Question 5

protrusion of the brain from the cranial cavity

Answer 5

cephalocele

Question 6

premature closure of the cranial sutures

Answer 6

craniosynostosis

Question 7

cystic dilatation of the lacrimal sac at the nasocanthal angle

Answer 7

dacryocystocele

Question 8

teratoma located in the oropharynx

Answer 8

epignathus

Question 9

abnormal protrusion of the eyeball

Answer 9

exophthalmia

Question 10

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

Answer 10

fetal cystic hygroma

Question 11

enlargement of the thyroid

Answer 11

fetal goiter or thyromegaly

Question 12

abnormal smallness of one side of face

Answer 12

hemifacial microsomia

Question 13

congenital defect caused by extra chromosome, which results in deficiency of forebrain

Answer 13

holoprosencephaly

Question 14

eyes too far apart

Answer 14

hypertelorism

Question 15

eyes too close together

Answer 15

hypotelorism

Question 16

hypertrophied tongue

Answer 16

macroglossia

Question 17

head smaller than body

Answer 17

microcephaly

Question 18

small chin

Answer 18

micrognathia

Question 19

small eyes

Answer 19

microphthalmia

Question 20

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

Answer 20

nuchal lucency

Question 21

underdevelopment of the eyes, fingers, and mouth

Answer 21

oculodentodigital dysplasia

Question 22

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

Answer 22

otocephaly

Question 23

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

Answer 23

phenylketonuria (PKU)

Question 24

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

Answer 24

Pierre Robin syndrome

Question 25

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

Answer 25

proboscis

Question 26

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

Answer 26

strabismus

Question 27

solid tumor

Answer 27

teratoma

Question 28

underdevelopment of the jaw and cheekbone and abnormal ears

Answer 28

Treacher Collins syndrome

Question 29

premature closure of the metopic suture

Answer 29

trigonocephaly