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Ob/gyn 3, The Fetal Face and Neck

Terms in this set (52)

Congenital anomalies of the face affect 1 in ____ births
600
List 5 examples of congenital facial anomalies
Cleft lip
Hypotelorism
Hypertelorism
Micrognathia
Cleft palate
What are the 2 most common facial anomalies that are associated with chromosomal abnormalities
Macroglossia
Micrognathia
What is anterior cephalocele
A protrusion of brain from the cranial cavity
Anterior cephalocele may cause
Hypertelorism
What is craniosynostosis
Premature closure of any or all six of the cranial sutures
In craniosynostosis, the affected sutures, and overall number of sutures that are prematurely fused affect
The shape of the skull and often times the outcome (i.e. The more sutures that prematurely fused, the worse the prognosis)
What is trigonocephaly
Premature closure of the metopic suture, which causes the forehead to have an elongated "tall" appearance in the sagittal plane, and a triangular appearance in the axial plane
What is cloverleaf skull
A form of craniosynostosis where multiple sutures of the skull prematurely fuse, causing the skull to have a clover leaf appearance in the anterior view. It is associated with numerous skeletal dysplasias
What is the most notable skeletal dysplasia that produces a cloverleaf skull
Thanatophoric dysplasia
What is frontal bossing
An unusually prominent forehead
When is frontal bossing observed
In many skeletal dysplasias, in many forms of craniosynostosis, in a lemon shaped skull from spina bifida
What is the banana sign and what is it associated with
A cerebellum shaped like a banana (instead of a peanut shape). It is associated with spina bifida and disappears after 24 weeks
What is another name for midface hypoplasia
Maxillary hypoplasia
What is midface hypoplasia
Underdevelopment of the middle structures of the face
Midface Hypoplasia is seen in fetuses with
Trisomy 21
Craniosynostosis syndromes such as Apert's syndrome
Limb and skeletal abnormalities
The fetal nasal bone may be small or absent in what trisomy
Trisomy 21 - Down syndrome
What is another name for Median cleft face syndrome
Frontonasal Dysplasia
Frontonasal dysplasia consists of a range of midline facial defects involving
Eyes
Forehead
Nose
What abnormalities are included in frontonasal dysplasia
Hypertelorism
Bifid nose
Broad nasal bridge
Midline defect of the frontal bone
Widows peak
What is Nuchal thickness measurement
A measurement, taken in the second trimester, of the fold of skin at the back of the fetal neck. Greater than 6mm would be considered abnormal
What is macroglossia
Enlargement of the tongue
Macroglossia is seen in
Beckwith-Wiedemann syndrome
Some glycogen storage diseases
Down syndrome
What is micrognathia
Abnormally small chin
Micrognathia is a common characteristic of what anomalies
- Chromosome anomalies such as Trisomy 18, Triploidy
- Skeletal dysplasias
- Primary mandibular disorder such as Pierre Robin syndrome and Treacher Collins syndrome
Can ear malformations be seen sonographically
Not reliably
When evaluating orbits what should be assessed
The presence of both eyes
Overall size of eyes
Orbital measurements if called for
What is measured when assessing orbits
Inner-orbital distance - Distance between eyes inner to inner
Outer-orbital distance (binocular distance) - Outer eye to outer eye
What is the name for small eyes
Microphthalmia
What is the name for absent eyes
Anopthalmia
What is the name for eyes set abnormally close together
Hypotelorism
In what 3 anomalies can Hypotelorism be seen
Holoprosencephaly
Microcephaly
Craniosynostosis
What is the name for eyes set abnormally far apart
Hypertelorism
What are we looking for when we are evaluating the nasal triad
Nostril symmetry
Nasal septum integrity
Continuity of the upper lip
There are many nasal anomalies seen with holoprosencephaly. Name 4 of them
Arhinia - absence of nose
Proboscis
Cebocephaly - nose with single nostril
Ethmocephaly - severe hypotelorism with proboscis
What is the most common congenital anomaly of the face
Cleft lip with or without cleft palate
How does cleft lip develop
There is a failure of the primary and secondary palate to fuse
How does cleft palate develop
The lateral palatine processes fail to fuse in the midline
What is the most common neck mass
Cystic hygroma
What is the cause of cystic hygroma
A malformation of the lymphatic system that leads to single or multiloculated lymph filled cavities around the neck
What percent of cystic hygromas are associated with chromosomal abnormalities
50%
What percent of cystic hygromas involve the axillae
20%
What syndrome is cystic hygroma most frequently seen with
Turner's syndrome
Cystic hygroma with fetal hydrops carries a
100% fetal mortality
Why does fetal goiter develop
Because the mother has thyroid disease
Sonographic appearance of fetal goiter
Symmetrical, bilobed, solid, homogenous mass arising from the anterior fetal neck
Fetal goiter can cause esophageal obstruction resulting in
Hydramnios and small fetal stomach
Can the fetus have hypo or hyper thyroid
Yes, either
How is fetal thyroid function tested
PUBS - Percutaneous umbilical blood sampling via the umbilical vein
How is fetal thyroid malfunction treated
Thyroxine can be instilled weekly via amniocentesis
Maternal medications can be increased
Will treatment resolve fetal goiter
Yes
How does a neck teratoma look sonographically
Complex patterns similar to teratomas of other organs
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