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450
ABC
Figure 16–5.
while the alveolar ridge appears intact. (B) Coronal section of the face demonstrating the cleft extending between the nostril and the oral cavity ( arrow ).
(C) 3D sonogram with surface rendering in the same fetus. (Reproduced, with permission, from Visual Encyclopedia of Ultrasound in Obstetrics and
Gynecology, www.isuog.org.)
Chapter 16 Craniofacial Anomalies
Alveolar ridge
Unilateral cleft lip in the third trimester of gestation. (A) Axial section of the palate demonstrating a defect in the upper lip ( arrow ),
selection of aneuploid fetuses, as well as to the inclusion of
an excess of atypical clefts.
Extrafacial anomalies are found in ∼13% of infants
with cleft lip/palate and up to 60% of fetuses with facial
clefting.
2 , 3 , 19 , 20
A long list of genetic and nongenetic syndromes is associated with facial clefts. The most frequent
malformations are nervous, skeletal, and cardiovascular
anomalies.
The sonographic diagnosis of cleft lip/palate in the
fetus depends on demonstration of a groove extending
from one of the nostrils into the lip and possibly into
the alveolar ridge. With standard 2D US, facial clefts can
be recognized and categorized by a combination of coronal and axial scans ( Figures 16–5 , 16–6 , 16–7 , and 16–8 ).
In our experience, cleft lip is best visualized in an anterior
coronal plane demonstrating a linear defect extending
from one nostril to the oral rim, usually associated with
distortion of both the upper lip and nose ( Figure 16–5 ).
Extension of the defect into the palate is better demonstrated in an axial scan of the maxilla ( Figure 16–7 ).
By angling the transducer or using the 3D approaches
for the previously described posterior palate, it is usually
possible to evaluate the degree of extension of the defect,
that is, to identify whether the lesion is limited to the most
anterior part of the palate, the alveolar ridge, or continues
into the posterior palate. Indirect sonographic findings
can also be noted that correlate with the type of defect.
In the typical form of bilateral cleft lip/palate, the axial
and sagittal views demonstrate a protrusion of the central
portion of the palate and lip that is commonly referred
to as the “maxillary pseudomass”
2
(see Figure 16–8 ). We
would like to emphasize that this maxillary pseudomass
is generated by the “rolled up” tissue of the philtrum and
appears as a hyperechoic protrusion pathognomonic on
a median plane (profile) as well as a coronal or tangential
plane of the upper lip. With bilateral cleft lip/palate there
is a major distortion of facial anatomy and the pseudomass
is a more obvious and reliable finding than the visualization of the clefts that is sometimes difficult. With unilateral cleft lip/palate or bilateral cleft lip the profile view is
Alveolar ridge
A
Figure 16–6. Bilateral cleft lip ( arrows ) in the second trimester. Coronal ( A ) and axial ( B ) 2D sonograms demonstrating the clefts in the upper lip
and the intact alveolar ridge. (C) 3D sonogram with surface rendering in the same fetus. (Reproduced, with permission, from Visual Encyclopedia of
Ultrasound in Obstetrics and Gynecology, www.isuog.org.)
B
C
Cleft lip + palate
Chapter 16 Craniofacial Anomalies
Tongue
451
A
Cleft lip
CDE
Figure 16–7. Unilateral cleft lip/palate: multisectional analysis of an ultrasound (US) volume. (A–D) and 3D sonogram with surface rendering
(E) demonstrate a square-shaped defect in the upper lip and major distortion of the nose. (Reproduced, with permission, from Pilu G. Atlas of Obstetric
Ultrasound, The Global Library of Women’s Medicine, www.glowm.com.)
usually unremarkable. Unilateral cleft lip is always associated with some degree of asymmetry and distortion of the
tip of the nose and nostrils, which is maximal with cleft
lip/palate. A few cases of bilateral cleft lip/palate are not
associated with a pseudomass but rather to flat facies with
B
Cleft palate
nasal hypoplasia.
21
This rare anomaly is probably closely
related to median cleft lip, in that it is found with extreme
flattening of the nose, usually in association with multiple
anomalies and chromosomal aberrations, trisomy 18 in
particular ( Figure 16–9 ).
Pseudo-mass
Pseudo-mass
A
C
Figure 16–8. Bilateral cleft lip/palate (arrows) demonstrated with multisectional analysis of a US volume. The anterior protrusion of the central portion
of the maxilla in the sagittal (A) and axial (B) views results in a typical premaxillary pseudomass. Coronal sections (C–D) reveal the clefts extending into
the palate (Reproduced, with permission, from Pilu G. Atlas of Obstetric Ultrasound, The Global Library of Women’s Medicine, www.glowm.com.)
B
D
452
AB C
Figure 16–9. Bilateral cleft lip/palate ( arrows ) with flat face. (A), (B)
Antenatal 2D and 3D sonograms. (C) Postnatal appearance. This fetus
was affected by mosaic trisomy 8.
Chapter 16 Craniofacial Anomalies
At times, evaluation of the palate is difficult with sonography, particularly in advanced gestation. MRI is usually
quite effective in depicting the normal and abnormal palate
and may be used in selected cases
16 , 17 , 22
( Fig ure 16–10 ).
The diagnosis of cleft lip/palate, mostly of the bilateral
type, has been described even in early gestation, at 11 to
14 weeks, usually because of the demonstration of indirect
signs of a premaxillary pseudomass or flat face.
21 , 23
Prognosis depends primarily on the presence and type
of associated anomalies. Mild clefts, such as lineal indentations of the lips or submucosal cleft of the soft palate,
may not require surgical correction. Larger defects cause
cosmetic, swallowing, and respiratory problems. Recent
advances in surgical technique have produced good cosmetic and functional results. Cases that are associated with
a defect in the posterior palate represent the greatest challenge for surgical correction, as the soft palate is involved
in the process of swallowing and vocalizing. Furthermore,
inner ear/tubal disorders may lead in time to acoustic
problems and deafness.
Cleft Palate
The term cleft palate refers to a defect of the posterior
portion of the palate (secondary palate) in the presence of
a normal upper lip and anterior (primary) palate. Cleft lip/
palate and cleft palate are two different anomalies. With
exceedingly rare exceptions, recurrences are type specific.
If the index case has cleft lip/palate, there is no increased
risk for cleft palate, and vice versa. Roughly, 25% of facial
clefts are cleft lip, 50% cleft lip/palate, and 25% cleft palate.
In the vast majority of cases, cleft palate has a multifactorial
etiology. Cleft of the palate may include defects of the hard
palate, the soft palate, or both or the submucosal tissue.
At present the US diagnosis of isolated cleft palate
appears difficult. In general 2D US fails to demonstrate
the condition.
3 , 6
Specific 3D US techniques have been
described to overcome the physical limitations of US
( Figure 16–11 ), but very few accurate diagnoses have been
reported thus far.
physical limitations of US and is likely to be more effective
than US ( Figure 16–12 ).
24
Conversely, MRI does not suffer the
16 , 17 , 24
The prognosis of cleft palate depends primarily upon
the presence of associated malformations. Surgical correction is frequently challenging as the soft palate is involved
in the process of swallowing and vocalizing. Furthermore,
tubal disorders may lead in time to acoustic problems and
deafness.
Atypical Facial Clefts
About 3% of clefts occur in portions of the face different
from the line joining the nostrils to the posterior palate. Their prevalence was reported to be much higher in
prenatal studies due to both the high intrauterine fatality
rate that is associated with some of these conditions and
probably the higher detection rate due to the frequency of
associated malformations.
Tessier proposed a classification of these clefts that
is demonstrated in Figure 16–13 .
Tessier cleft 0, is the type most frequently reported in prenatal studies. This is a quadrangular defect in the central
portion of the upper lip and palate, usually associated with
a flattened nose ( Figure 16–14 ). It accounts for 0.2% to
0.7% of all cases of cleft lip. It is considered to represent
the consequence of underdevelopment of the frontonasal prominence, which normally joins the two maxillary
25 , 26
The median cleft, or
ABC
Figure 16–10. Magnetic resonance imaging (MRI) demonstrating a fetal facial cleft. (A), (B) Coronal sections. (C) Median section demonstrating the
central absence of the posterior palate. (Reproduced, with permission, from Ghi T, Tani G, Savelli L, Colleoni GG, Pilu G, Bovicelli L. Prenatal imaging
of facial clefts by magnetic resonance imaging with emphasis on the posterior palate. Prenat Diagn. 2003;23[12]:970–975.)
Chapter 16 Craniofacial Anomalies
453
Anterior palate
Cleft
Figure 16–11. 3D sonographic diagnosis of cleft palate. (Reproduced, with permission, from Benacerraf BR, Sadow PM, Barnewolt CE, Estroff JA,
Benson C. Cleft of the secondary palate without cleft lip diagnosed with three-dimensional ultrasound and magnetic resonance imaging in a fetus with
Fryns’ syndrome. Ultrasound Obstet Gynecol. 2006;27[5]:566–570.)
prominences creating the philtrum. Development of the
midface is induced by the prechordal mesenchyma, which
is also responsible for the differentiation of the midline
structures of the brain. This explains the frequent association of median clefts with orbital anomalies ( Figure 16–15 )
and cerebral malformations. There is a striking correlation between severe holoprosencephaly and craniofacial
malformations, including mostly cyclopia, median cleft lip
with hypotelorism, absence of the nose, and the presence
of a proboscis
holoprosencephaly both have a very severe prognosis.
3 , 27 , 28
( Figure 16–16 ). Alobar and semilobar
27
Median cleft lip may also occur in association
with hypertelorism (increased interorbital diatance), a
AB
Figure 16–12. Same case as in Figure 16–11. MRI effectively confirms
the central defect in the posterior palate (arrows) both in the coronal
plane (A) as well as sagittal plane (B). (Reproduced, with permission, from
Benacerraf BR, Sadow PM, Barnewolt CE, Estroff JA, Benson C. Cleft of
the secondary palate without cleft lip diagnosed with three-dimensional
ultrasound and magnetic resonance imaging in a fetus with Fryns’ syndrome. Ultrasound Obstet Gynecol. 2006;27[5]:566–570.)
12
14
0
A
B
10
13
11
1
2
9
4
3
8
1
2
3
4
5
30
14
0
13
12
11
1
2
3
3
4
0
2
3
1
30
7
6
7
10
4
9
8
7
6
5
7
6
Figure 16–13. Tessier classification of craniofacial clefts (A) soft
tissues, (B) skull.
454
AB C
Figure 16–14. Median cleft lip ( arrows ). (A), (B) Coronal and axial 2D
sonograms. (C) 3D sonogram with surface rendering. (Reproduced, with
permission, from Visual Encyclopedia of Ultrasound in Obstetrics and
Gynecology, www.isuog.org.)
combination that is pathognomonic of the median cleft
face syndrome or frontonasal dysplasia.
Chapter 16 Craniofacial Anomalies
29 , 30
The pathogenesis is much different in these cases. The premaxilla is
present, as well as the nose, which is usually bifid; however,
the brain is normal in most cases.
The prognosis of median cleft lip depends entirely on
the association with other anomalies. Median cleft face
syndrome is associated in 80% of cases with normal intel-
30
ligence.
In such cases radical cosmetic surgery may be
required. The most common atypical cleft found at birth
is the lateral one (or Tessier 7), which has an estimated
incidence of 1 in 3000 to 5600 live births and may be either
unilateral (more frequently on the left side) or bilateral. It
is probably due to defective development of the branchial
arches and is characterized by a variable degree of widening of the oral commissure (macrostomia) associated
with hypoplasia of the lateral skeleton of the face (maxilla,
zygomatic bone, and ascending branch of the mandible)
and external ear. A handful of cases have been diagnosed
antenatally. Sonographic findings include unusual deepening of the corners of the mouth and asymmetry between
the two sides of the face. 3D US is particularly valuable
for recognizing lateral clefts. The central portion of the
face, nose, lips, and alveolar ridge is well visualized with a
standard 2D scan; however, the lateral part of the fetal face
may not be easy. A panoramic view of the entire face using
the surface mode of 3D US is certainly the best approach
to establish the diagnosis ( Figure 16–17 ).
25 , 26 , 31 – 33
Lateral
clefts of the face are usually isolated malformations. Their
surgical correction is possible but is extremely challenging
due to the association with underlying skeletal abnormalities involving the mandible. Ear abnormalities are also frequent, further compounding the operative task.
ORBITAL AND OCULAR DEFECTS
In early development, the eyes are placed laterally in the
primitive face in a fashion similar to that of lower animals
with panoramic vision. As gestation progresses, they
migrate toward the midline, creating favorable conditions
for the development of stereoscopic vision. Abnormalities
of orbital diameters include hypotelorism (decreased
interorbital distance) and hypertelorism (increased orbital
distance) ( Figure 16–15 ). Hypotelorism is almost always
found in association with other severe anomalies, and
in particular with holoprosencephaly.
which depends on the associated anomalies, is usually
very poor. Hypertelorism can be either an isolated finding or associated with many clinical syndromes or malformations. Mild hypertelorism is a common variant.
However, there is a high likelihood of mental retardation
when either associated anomalies or an extreme degree of
hypertelorism are found. The most common anomalies
with hypertelorism are the “median cleft face syndrome,”
craniosynostoses such as Apert, Crouzon, and Pfeiffer
syndromes, agenesis of the corpus callosum and anterior
encephaloceles. Hypertelorism per se results only in cosmetic problems and possible impairment of stereoscopic
binocular vision. For severe cases, a number of operative
procedures, such as canthoplasty, orbitoplasty, surgical
positioning of the eyebrows, and rhinoplasty, have been
proposed.
Microphthalmia is defined as a decreased size of the
eyeball, and anophthalmia refers to the absence of the eye;
however, the term anophthalmia should be reserved for
the pathologist, who must demonstrate not only absence
of the eye but also of optic nerves, chiasma, and tracts.
Microphthalmia/anophthalmia, which is either unilateral
or bilateral, is frequently associated with genetic and
nongenetic syndromes. Prenatal diagnosis of microphthalmia is based on the demonstration of decreased ocular diameter and careful examination of the intraorbital
anatomy is indicated to identify lens, pupil, and optic
nerve ( Figure 16–18 ).
34 , 35
It has been reported that at least
in some cases this anomaly may develop throughout gestation and early prenatal diagnosis may be impossible.
Congenital microphthalmia is frequently associated with
visual disorders and with other anomalies. Goldenhar
syndrome is characterized by hypoplasia of one half of the
face (hemifacial microsomia) that often includes unilateral
anophthalmia, ear, dental, and facial abnormalities.
3 , 28
The prognosis,
36 , 37
34
ABC
Figure 16–15.
Visual Encyclopedia of Ultrasound in Obstetrics and Gynecology, www.isuog.org.)
Abnormalities of interorbital distance. (A) Normal fetus. (B) Hypotelorism. (C) Hypertelorism. (Reproduced, with permission, from
ABC
Figure 16–16.
prosencephaly. (A) Cyclopia. (B) Ethmocephaly. (C) Median cleft lip with
hypotelorism. (Courtesy of T. Esser, MD.)
Craniofacial abnormalities associated with severe holo-
A cataract is a clouding of the lens in the eye that
affects vision. Most cataracts are related to aging. Cataracts
are very common in older people. Rarely, this is found at
birth, and in these cases the disease is usually bilateral.
Sonographically, cataract is associated with an echogenic
lens (see Figure 16–18 ). Prenatal diagnosis of cataracts
have been reported.
38 , 39
In the majority of cases, they are a
part of multiple anomalies and syndromes, or are associated with congenital infections. Congenital cataracts can
be treated by removal of the lens. The prognosis however
depends largely upon the associated anomalies.
Congenital obstruction of the nasolacrimal duct
results in cystic dilatation of the proximal part of the duct,
or dacrocystoceles. This has been identified prenatally as
an anechoic mass medial and slightly inferior to the eye.
40 , 41
Although the differential diagnosis includes an anterior
encephalocele, hemangioma, and a dermoid cyst, the sonographic appearance is typical ( Figure 16–19 ). Postnatally,
dacrocystoceles resolve spontaneously in ∼90% of cases
within the first 6 months of life.
A coloboma is a congenital gap in one of the structures of the eye. It may involve the iris, retina, choroid, or
optic disc. The prenatal sonographic diagnosis of retinal
coloboma has been described recently.
42
This appeared as
an irregular extroflession of the posterior contour of the
Chapter 16 Craniofacial Anomalies
eye ( Figure 16–20 ). Retinal colobomas are an important
cause of visual impairment. The main interest in diagnosing this condition antenatally is, however, its association
with syndromes including CHARGE and PHACE.
MICROGNATHIA AND RETROGNATHIA
The mandible arises from the merging of the two mandibular prominences that inferiorly delimit the stomodeum. The
mandible forms the floor of the oral cavity and contains the
tongue. If the mandible is severely hypoplastic (micrognathia) or posteriorly displaced (retrognathia) a typical
sequence of malformations occurs: the tongue is displaced
superiorly and posteriorly, leading to both abnormal closure
of the palatine process, that results in either a cleft palate or
a high arched palate, and glossoptosis that may cause suffocation at birth. This sequence is frequently referred to as
the Robin anomalad, that may be a sporadic isolated finding
(in ∼40% of cases) or it may be associated with other anomalies or with recognized genetic and nongenetic syndromes.
Micrognathia/retrognathia is frequently associated with
genetic syndromes (eg, Treacher Collins, Robin, and Robert
syndromes), chromosomal abnormalities (mainly trisomy
18 and triploidy) and teratogenic drugs (eg, methotrexate).
Otocephaly is a rare, lethal, sporadic abnormality characterized by severe hypoplasia of the mandible (agnathia)
and severe midline defects, including holoprosencephaly,
anterior encephalocele, cyclopia, aglossia, microstomia,
and midfacial location of the ears (“ear head”).
Micrognathia/retrognathia encompasses a wide spectrum of severity, and probably most mild cases cannot be recognized in utero. Conversely, severe forms
can be identified since early gestation and different
approaches have been suggested from time to time.
Probably, the simplest one is the profile view to demonstrate that the midportion of the mandible is not aligned
with the maxilla.
47
In this view, the upper lip is usually
very prominent and the chin is receding ( Figure 16–21 ).
This, however, is a subjective observation, and at times it is
associated with many uncertainties. The index of suspicion
increases when the tongue appears displaced posteriorly
43
42
3 , 5 , 6 , 44 – 47
455
AB C
Figure 16–17. Lateral cleft of the face (Tessier type 7 cleft). (A) 2D coronal sonogram demonstrating asymmetry of the mouth ( arrow ). (B), (C) 3D
sonograms. (Reproduced, with permission, from Pilu G, Visentin A, Ambrosini G, D’Antona D, Andrisani A. Three-dimensional sonography of unilateral
Tessier number 7 cleft in a mid-trimester fetus. Ultrasound Obstet Gynecol. 2005;26[1]:98–99. )
456
Figure 16–18.
from Visual Encyclopedia of Ultrasound in Obstetrics and Gynecology, www.isuog.org.)
Chapter 16 Craniofacial Anomalies
ABC
Ocular anomalies. (A) Unilateral microphthalmia. (B) Bilateral microphthalmia. (C) Cataract ( arrow ). (Reproduced, with permission,
and superiorly
46
( Figure 16–22 ). Measurement of the mandible has also been proposed. Distinguishing micrognathia
from retrognathia is not simple, and the two conditions
frequently coexist. Intrauterine development of micrognathia, limiting early prenatal diagnosis has been suggest-
47
The use of 3D US has been suggested to increase the
ed.
accuracy of 2D US diagnosis
45
( Fig ure 16–23 ).
Severe micrognathia can be a neonatal emergency due
to airway obstruction by the normal tongue in the small
oral cavity. If prenatal diagnosis is made a pediatrician
should be present in the delivery room and be prepared
to intubate the infant.
48
The prognosis however depends
mostly on the presence of associated anomalies. Probably,
only the most severe cases and those with associated malformations are detected in utero, and this may explain the
poor outcome of most neonatal series.
43
TUMORS OF THE FACE
Epignathus is a very rare teratoma arising from the oral
cavity or pharynx. Most cases of epignathus arise from the
sphenoid bone. Some arise from the hard and soft palate,
the pharynx, the tongue, and jaw. From their sites of origin,
the tumors grow into the oral or nasal cavity or intracrani-
ally. The tumors, which are usually benign, consist of tissues derived from any of the three germinal layers; most of
them contain adipose tissue, cartilage, bone, and nervous
tissue. Prenatal diagnosis in the first and second trimester
was published demonstrating a solid tumor arising from
the oral cavity; calcifications and cystic components may
also be present
49 – 54
( Figure 16–24 ). Polyhydramnios (due
to pharyngeal compression) is frequently found. A careful
examination of the brain is important because the tumor
may grow intracranially. The outcome depends on the size
of the lesion and the involvement of vital structures. Lesions
detected antenatally have been very large. Polyhydramnios
has been associated with poor prognosis. The major cause
of neonatal death is asphyxia due to airway obstruction.
Surgical resection and normal postoperative course are
possible. Figure 16–25 describes a case in which a growing epiguatus (epidic) was longitudinally watched from
22 to 39 postmenstrual weeks throughout the delivery.
57
3D US and Doppler studies were performed to establish
the diagnosis and develop management strategies.
Myoblastoma is a very rare benign tumor that usually
arises from the oral cavity. The tumor occurs in females
exclusively, and it may be the consequence of excessive
production of estrogens by the fetal ovaries under human
chorionic gonadotropin stimulation. The US features
are those of a large solid mass protruding from the fetal
mouth. Vascular connections between the tumor and the
floor of the oral cavity may be demonstrated using color
Doppler US. Polyhydramnios (due to pharyngeal compression) is common.
Intracranial teratoma, which is considered in detail
elsewhere in this book (Chapter 13), may grow outside the
skull, protruding from the orbits.
Figure 16–19. Dacrocystoceles ( arrows ). (Reproduced, with permission,
from Visual Encyclopedia of Ultrasound in Obstetrics and Gynecology,
www.isuog.org.)
FACIAL DYSMORPHISM
Modern high-resolution US allows detailed evaluation of the
fetal face and an expert sonologist can now perform an anatomical examination on a living fetus in early gestation that
in many ways is similar to clinical evaluations performed on
live infants. Subtle facial dysmorphism is now amenable to
antenatal detection and 3D US is certainly valuable in this
setting. The detection of even the most subtle facial findings
has been useful to diagnose or corroborate the diagnosis of
Chapter 16 Craniofacial Anomalies
457
ABC
Figure 16–20.
eyeball ( arrow ). (B) Visualization of the fetal coloboma at the level of the papilla using 3D US (the virtual fetal eyeground). (C) A normal retina visualized
using the technique at the same gestational age. (Reproduced, with permission, from Bault JP, Quarello E. Retinal coloboma: prenatal diagnosis using a
new technique, the “virtual fetal eyeground.” Ultrasound Obstet Gynecol. 2009;33[4]:495–496.)
Retinal coloboma in a fetus at 27 postmenstrual weeks. (A) 2D US image of the left eye showing a small notch on the bottom of the
A
B
C
Figure 16–21. Median scan demonstrating the facial profile. (A) In a normal midtrimester fetus. (B) In a midtrimester fetus with multiple anomalies
and severe micrognathia ( arrow ). (C) In a fetus with multiple anomalies and severe micrognathia at 12 postmenstrual weeks. (Reproduced, with permis-
sion, from Visual Encyclopedia of Ultrasound in Obstetrics and Gynecology, www.isuog.org.)
Soft palate
Pharynx
A
Tongue
B
Soft palate
Pharynx
Tongue
Figure 16–22. Median scans in demonstrating the oral cavity in midtrimster fetuses. (A) Normal anatomy. Note the tongue, soft palate, and open
pharynx during swallowing. (B) Fetus with multiple anomalies and severe micrognathia. The floor of the oral cavity is small because of the diminutive mandible, and the tongue is displaced posteriorly, compressing the pharynx. When this pattern is persistent, it is highly suggestive of glossoptosis
and carries a high risk of respiratory failure after delivery. (Reproduced, with permission, from Visual Encyclopedia of Ultrasound in Obstetrics and
Gynecology, www.isuog.org.)
458
Chapter 16 Craniofacial Anomalies
A
Figure 16–23.
corresponding 3D images ( B), (D ). (Reproduced, with permission, from Visual Encyclopedia of Ultrasound in Obstetrics and Gynecology, www.isuog.org.)
3D US adds a further dimension to the diagnosis of micrognathia. In both cases, the 2D sonograms ( A), (C ) are less remarkable than the
A
Figure 16–24.
Epignathus. (A) Antenatal sonogram. (B) Postnatal image. (C) Postnatal radiogram. ( B, C courtesy of Frank Chervenak, MD.)
B
B
C
D
C
AB
C
E
D
Figure 16–25. 2D and 3D evaluation of epignathus arising from the left lower lobular. Arrows show the mass. (A) Axial section. (B) Parasagittal
section. (C) Vascular supply by power Doppler. (D) 3D surface rendering. (E) The neonate at birth (From Bornstein E, et al,
55
2009, with permission).
Chapter 16 Craniofacial Anomalies
AB
Figure 16–26.
a small, flat nose that does not form an angle with the forehead; the maxilla and mandible are prominent. (Reproduced, with permission, from Visual
Encyclopedia of Ultrasound in Obstetrics and Gynecology, www.isuog.org.)
2D ( A ) and 3D ( B ) sonograms of the profile of a midtrimester fetus demonstrating the pathognomonic findings of Binder syndrome:
459
syndromes in pregnancies at increased risk. However, some
caution is necessary since facial features may demonstrate
extreme variations even in normal individuals.
One of the conditions that can be reliably identified is Binder syndrome or “maxillonasal dysplasia” that
is characterized by the association of an extremely small
and flat nose, a convex upper lip, and malocclusion.
Prenatal diagnosis of this condition has been reported.
56
57 , 58
The profile view is particularly striking, with an extremely
small and flat nose that does not form an angle with the
forehead ( Figure 16–26 ). This condition does not seem to
affect neurological development and surgical treatment is
available. An association with chondrodysplasia punctata
has also been described.
56
CRANIOSYNOSTOSIS
Premature ossification and closure of the cranial sutures
results in abnormal shape and size of the skull. In severe
cases, this condition can also cause compression on cranial
nerves and increased pressure on the growing brain. The
final result depends upon the sutures that are involved
and the time the closure takes place ( Figure 16–27 ).
Craniosynostosis (or craniostenosis) occurs in about 1 of
2100 to 2500 births.
59 , 60
In most cases, only one suture is affected, and the
condition is isolated and sporadic. However, in a minority of cases, closure of multiple sutures is possible, and
associated anomalies are present. Craniosynostosis is part
of many genetic syndromes. The genetic defect underlying
some of these has been identified.
is a mutation in the genes encoding the fibroblast growth
factor receptors.
62
61
Most frequently, this
The most frequent craniosynostosis is due to closure
of the sagittal suture that is responsible for about half of
the cases, resulting in an elongated head (scaphocephaly).
The second most frequent type has changed over the
years from coronal to metopic craniosynostosis;
cause of this change is not yet clear.
65 , 66
In a recent study
involving 629 patients with single-suture nonsyndromal
craniosynostosis, closure of the sagittal suture was found
63 , 64
the
A
Figure 16–27. Schematic representation of the main types of craniosynostosis. (A) Normal head. (B) Premature closure of sagittal suture ( arrow )
or scaphocephaly. (C) Premature closure of both coronal sutures ( arrows ). (D) Premature closure of metopic suture ( arrow ) or trigonoscephaly.
(E) Premature closure of multiple sutures ( arrows ) leading to cloverleaf skull. (Reproduced, with permission, from Visual Encyclopedia of Ultrasound in
Obstetrics and Gynecology, www.isuog.org.)
BCD
E