Chapter 58: The Fetal Face and Neck

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1

anophthalmia

absent eyes

2

arhinia

absence of the nose

3

Beckwith-Wiedemann syndrome

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

4

branchial cleft cyst

a cystic defect that arises from the primitive branchial apparatus

5

cephalocele

protrusion of the brain from the cranial cavity

6

craniosynostosis

premature closure of the cranial sutures

7

dacryocystocele

cystic dilatation of the lacrimal sac at the nasocanthal angle

8

epignathus

teratoma located in the oropharynx

9

exophthalmia

abnormal protrusion of the eyeball

10

fetal cystic hygroma

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

11

fetal goiter (thyromegaly)

enlargement of the thyroid gland

12

hemifacial microsomia

abnormal smallness of one side of the face

13

holoprosencephaly

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

14

hypertelorism

eyes too far apart

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hypotelorism

eyes too close together

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macroglossia

hypertrophied tongue

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microcephaly

head smaller than the body

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micrognathia

small chin

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microphthalmia

small eyes

20

nuchal lucency

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

21

oculodentodigital dysplasia

underdevelopment of the eyes, fingers, and mouth

22

otocephaly

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

23

phenylketonuria (PKU)

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

24

Pierre Robin syndrome

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

25

proboscis

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

26

strabismus

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

27

teratoma

solid tumor

28

Treacher Collins syndrome

underdevelopment of the jaw and cheekbone and abnormal ears

29

trigonocephaly

premature closure of the metopic suture