The Fetal Face and Neck

Ethmocephaly

A condition in which there is no nose and a proboscis is separating two close-set orbits

Anopthalmia

Absence of eyes- linked to trisomy and 18

What most commonly causes hypertelorism?

Anterior cephalocele

What is Macroglossia most commonly associated with?

Beckwith-Wiedmann syndrome

When are nuchal folds typically measured?

Between 15 and 19 weeks

When does the fetal lips close?

Between 7 and 8 weeks

When holoprosencephaly is present what type of abnormalities should be assessed?

Facial abnormalities (hypotelorism, cebocephaly, ethmocephaly, cyclopia, and cleft lip and/or cleft pallate)

Beckwith-Wiedemann syndrome

Growth disorder syndrome synonymous with enlargement of several organs including the skull, tongue, and liver

What most commonly causes hypotelorism?

Holoprosencephaly

Hypertelorism

Increased distance between orbits (interocular distance)

Interlocular diameter

Length between the orbits

Binocular diameter

Length lateral margin of one orbit to the lateral margin of the other orbit

Cystic hygroma

Mass typically found in the neck region, that is the result of an abnormal accumulation of lymphatic fluid within the soft tissue

Ocular diameter

Measurement that is performed from the lateral wall of the orbit to the medial wall of the orbit

Epignathus

Oral teratoma; difficult to differentiate from macroglossia

Hypotelorism

Reduction in distance

Macroglossia

Unusual proturbance of the tongue