OB CH. 58 MATCHING

Anophthalmia

Absent eyes

Arrhinia

Absence of the nose

Cephalocele

Protrusion of the brain from the cranial cavity

Craniosynostoses

Premature closure of cranial sutures

Dacryocystocele

Cystic dilatation of the lacrimal sac at the nasocanthal angle

Exophthalmia

Abnormal protrusion of the eyeball

Fetal cystic hygroma

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

Fetal goiter (thyromegaly)

Enlargement of the thyroid gland

Holoprosencephaly

Congenital defect of caused by an extra chromosome which causes a deficiency in the forebrain

Hypertelorism

Eyes too far apart

Microcephaly

Head smaller than the body

Micrognathia

Small chin

Nuchal lucency

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

Phenylketonuria (PKU)

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

Treacher Collins syndrome

Underdevelopment of the jaw and cheek bone and abnormal ears

Beckwith-wiedemann syndrome

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

Brachial cleft cyst

Cystic defect that arises from the primitive brachial apparatus

Epignathus

Teratoma located in the oropharynx

Hemifacial microsomia

Abnormal smallness of one side of the face

Hypotelorism

Eyes too close together

Macroglossia

Hypertrophied tongue

Microphthalmia

Small eyes