Work book chapter 58

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

dacryocstocele

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 cavitites 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 extra 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

micorgnathia

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 (phenylalnine) 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 coexistence of an omphalocele, macroglossia, and visceromeglay

Answer 16

Beckwith-wiedemann syndrome

Question 17

Cystic defect that arises from the primitive branchial apparatus

Answer 17

Branchial 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

hypotelorsim

Question 21

hypertrohpied tongue

Answer 21

macroglossia

Question 22

small eyes

Answer 22

microphthalmia

Question 23

Underdevelompment of the eyes, fingers, and mouth

Answer 23

oculodentodigital dysplasia

Question 24

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

Answer 24

otocephaly

Question 25

Micognathia and abnormal smallness of the tongue, usually with 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 aces 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