OB II Unit 4 - Slides 105- 125 Abnormilites of Skull and Face

How many births do congenital anomalies of the face affect?

1 in 600 births 

What is a routine part of basic US protocol?

Fetal Facial evaluation

What causes an increased factor for scanning the face?

If family history or congenital anomalies are found

When are facial features identified?

End of the first trimester

What are these images showing?

Facial Evaluation 

What view is best for the cleft lip and palate?

Modified Coronal View

What are these images showing?

Cleft Lip and Palate

What is the best view for evaluating the maxilla and orbits?

Coronal Plane

What do you also evaluate in the coronal plane?

Lens of the eyes

What is this image showing?

Coronal view of facial structures (maxilla, upper lip, mandible, nasal bones, lower eyelids

What view do you use when evaluating the nasal bones, soft tissue, and mandible(chin)?

Longitudinal view 

What view do you use when evaluating the orbital abnormalies, intraorbital distances, maxilla, mandible & tongue?

Transverse View

What is this image showing?

Transverse view of fetal face

How do you evaluate the abnormalities of the forehead?

• Evaluated by profile 

  • Series of midsagittal scans through the face

How do you evaluate the abnormalities of the frontal bone?

• Use a curvlinear surface

• Differentiation of forehead, nose, lips, & chin

What are differential diagnosis for abnormalities of the face?

• Anterior cephaloceles

• Hypertelorism 

What do you evaluate when scanning the skull?

Its shape

What is craniosynostosis?

• Premature closure of any or all six of the cranial sutures

What is Clover Leaf abnormality?

A misshapen skull

What is associated with a Clover Leaf skull?

• Assoc. with skeletal dysplasias (thanatophoric dysplasia) (dwarfism)

• Ventriculomegaly

What are these images showing?

Misshaped skulls

What is Trigonocephaly?

• Premature closure of metopic suture

What is the sonographic appearance of trigonocephaly?

• Elongated (tall) forehead in sagittal

• Triangular shape in axial

What is this image showing?

Trigonocephaly

What is frontal bossing?

Lemon shaped head

What is Strawberry shaped?

Bulging of the frontal bones

What is this image showing?

Frontal Bossing

What is this image showing?

Strawberry Shaped Skull

What is Midface Hypoplasia or Maxillary Hypoplasia?

• With depressed or absent nasal bridge

• Underdevelopment of middle structures of face

What are Midface Hypoplasia or Maxillary Hypoplasia associated with?

• Chromosomal anomalies (Trisomy 21)

• Craniosynostosis syndromes (Apert’s)

• Limb & skeletal abnormalities

What can be absent and how is its absence used in midface hypoplasia?

• Fetal nasal bone may be small or absent

  • Used as predictor for Chromosomal anomalies (Trisomy 21)

What are these images showing?

Midface Hypoplasia or Maxillary Hypoplasia

What is this image showing?

Absent nasal bone What

What is frontonasal dysplasia?

• Median cleft syndrome

  • Defects involving eyes, forehead, & nose

What are the sign/ ultrasound appearance of Frontonasal dysplasia?

• Hypertelorism – primary US finding

• Bifid nose – cleft or division, split

• Broad nasal bridge

• ML defect of frontal bone

• “Widow’s peak” hairline

When is the Nuchal Translucency measured?

• Measured between 11 & 13 weeks 6 days

  • CRL should be within range of 45-84 mm

What is the normal measurement of the nuchal translucency?

< 3 mm is considered normal

What does an increased nuchal translucency measurement associated with?

• Aneuploidy 

  • Dependent on size and extent

What are these images showing?

Nuchal Translucency

What is included in the nasal triad?

1.Nostril symmetry

2.Nasal septum integrity

3.Continuity of upper lip

What also should be ruled out when scanning the upper nose and lip?

• Cleft Lip 

• Cleft Palate 

• Tumors

  • Epignathus

  • Teratoma

What is this image of?

Upper lip and nose

What part of ultrasound can help make the diagnosis of nose or upper lip abnormality (cleft lip or palate)?

3D/4D

What is Macroglossia?

• Protrusion or enlarged tongue

What is macroglossia associated with?

• Beckwith-Wiedemann Syndrome

• Trisomy 21

What is Micrognathia?

• Small/depressed chin

• Seen in profile

What is associated with Micrognathia?

• Chromosomal anomalies

  • Trisomy 18 & Triploidy

• Skeletal dysplasia’s

• Primary mandibular disorders

What is polyhydramnios associated with in relation to the tongue?

Inability to swallow

What is this image showing?

Micrognathia

What is this image showing?

Macroglossia

Where is the fetal mandible(chin) seen best?

In a profile view

What else should a sonographer evaluate when scanning through the mandible?

Check for masses of the face and identify the origin 

What are these images showing?

Micrognathia

Are malformations of the ear predicted on US?

No, are rarely predicted on US

If malformations of the ear are found, what are they?

•Low-set ears

•Small ears

What are these images showing?

Fetal Ears