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Файл:Ординатура / Хирургия / Библиотека им академика М.И. Перельмана / Книга_5805_Библиотеки_им_академика_М_И_Перельмана.pdf
156
12 Syndromes andAssociations
a
b
c
*
d
*
e
f
*
g
*
Fig. 12.1 Median CLP with holoprosencephaly at
19weeks (TAS). (a) midsagittal section at facial prole
with absence of maxillary line (arrowhead) (b) median
cleft lip (*) (c) absent nose with arrow points to the
Increased uid in the posterior fossa can be a
subtle marker for aneuploidy. Figure 12.6 is an
example of bilateral CLP with increased nuchal
translucency and increased uid in the posterior
fossa. The association of aneuploidy markers
along with bilateral CLP in the rst trimester
depression between the orbits (d) coronal section defect
(*) in base of RNT (e) Rendered view of the face (f) postnatal correlation (g) Cup-shaped monoventricle (*), axial
view of intracranium
emphasizes the need for early genetic testing at
11–14weeks itself.
The degree of associated brain malformation
in CLP can range from major abnormalities like
holoprosencephaly or minor abnormality like
agenesis of the corpus callosum. (Fig.12.7).
ef
12.1 Fetal Brain inOrofacial Clefts
157
a
c
b
A
M
M
d
CP
T
Fig. 12.2 Median CLP with holoprosencephaly at
13weeks. (a) Midsagittal section at facial prole with
absence of maxillary line (arrowhead) (b) coronal section
defect(*) in base of RNT (c) Midline line interruption
(arrow) of the alveolar arch (d) Axial section depressed
nasal bridge (pointer). (e) Crux defect (dotted arrow) of
heart indicating AVSD. (f) Fused thalami with absence of
midline falx. (g) Rendered view of face. (h) Fused choroid
plexues in holoprosencephaly. Choroid plexus (CP),
Thalamus (T), Apex (A) and Mandible (M)
158
cd
12 Syndromes andAssociations
g
Fig. 12.2 (continued)
a
h
CP
b
NB
V
*
M
MV
Fig. 12.3 Bilateral CLP with holoprosencephaly at
22weeks (a) Midsagittal prole illustrating premaxillary
protrusion. (b) Defect (*) in premaxilla. (c) Coronal view
median process (M) with bilateral paramedian cleft
(arrows). (d) Cup-shaped monoventricle (MV) in holoprosencephaly. Nasal bone (NB), Vomer (V)
cd
12.2 Common Syndromes Associated withClefts andMicrognathia
159
a
UL
N
b
*
UL
C
*
C
V
BS
Fig. 12.4 Mediolateral CLP with DWM at 21weeks (a)
Nose chin view illustrating labial defect (*). (b) Axial
view lateralized defect (arrow) in alveolar arch. (c) Axial
view intracranium open fourth ventricle (*) with commu-
Approximately 50% of cases born with cleft
palate occur as part of a known genetic syndrome
or with another malformation (e.g., congenital
nication between cisterna magna and fourth ventricle. (d)
Midsagittal section illustrating hypoplastic and rotated
vermis (V). Nose (N), Upper lip (UL), Brain stem (BS)
and cerebellum (C)
dactyly syndrome. Figure12.10 illustrates unilat-
eral CLP in a case of Goldenhar Gorlin
syndrome.
heart defects), and the other half occur as solitary
defects, referred to often as nonsyndromic clefts.
The most common syndrome associated with
isolated cleft palate is velocardiofacial syndrome (VCFS). This syndrome is a result of
12.2 Common Syndromes
Associated withClefts
andMicrognathia
microdeletions of chromosome 22q11.
Figure 12.8 is an illustration of bilateral CLP
associated with double outlet right ventricle and
single umbilical artery.
Orofacial cleft can be associated with chromosomal syndromes, monogenic syndromes, as a
part of a sequence and multiple congenital anomalies of unknown origin. Figure12.9 illustrates
median cleft lip associated with short rib poly-
Micrognathia is the most commonest association
with orofacial cleft. Micrognathia can be associated with about 270 syndromes and malformations. The common syndromes associated with
cleft of the secondary palate are Pierre Robins
syndrome, Stickler syndrome, Monosomy 22q11
or DiGeorge Syndrome and Treacher Collins
syndrome.
160
ef
12 Syndromes andAssociations
a
NB
ML
b
N
UL
UL
*
c
d
*
CP
*
Fig. 12.5 Bilateral CLP with posterior fossa cyst at
13weeks. (TVS) (a) Midsagittal prole illustrating maxillary gap (arrow) and premaxillary protrusion. (b) Nose
chin view illustrating paramedian clefts (arrowheads). (c)
Axial view illustrating the median process and bilateral
CP
paramedian clefts (arrows). (d) Rendered view of the face.
(e) Dangling choroid plexuses (CP) ventriculomegaly. (f)
Sagittal section showing increased uid (*) in the posterior fossa. Nasal bone (NB), Maxillary line (ML), Nose
(N), Upper lip (UL)
cd
12.3 Pierre Robin Syndrome
161
a
b
MG
V
*
Fig. 12.6 Bilateral CLP with increased NT and increased
uid in the posterior fossa at 13 weeks. (a) Axial view
illustrating complete bilateral CLP (arrows points to bilateral paramedian defects). (b) Midsagittal view of fossa
As external ear anomalies such as anotia or
microtia are common features in Treacher Collins
syndrome, evaluation of external ears should be
included during the ultrasound examination.
Pierre Robins syndrome is a neonatal emergency due to the associated airway obstruction
caused by glossoptosis.
12.3 Pierre Robin Syndrome
showing maxillary gap (MG). (c) Increased uid (*) in the
posterior fossa. (d) Increased nuchal translucency
(arrows), Vomer (V)
for preparing the delivery team for a possible
respiratory emergency.
Several studies using standardized objective
methods for diagnosing micrognathia and isolated cleft palate have been proposed. Inferior
facial angle is used in the mid trimester to identify micrognathia. The cleft of the posterior
palate is difcult to identify in mid trimester as
there is also glossoptosis.
Mid trimester suspicion of this syndrome is
mainly on the identication of micrognathia
PRS is a rare congenital malformation characterized by micrognathia, glossoptosis, and airway
obstruction. A “U”-shaped cleft of the second-
ary palate is noted in about 90% of cases with
PRS [10]. Prenatal suspicion of PRS is essential
and glossoptosis. The cleft of the secondary pal-
ate is most often conned to the posterior part of
the secondary palate and is often difcult to visualize on the antenatal scan. Hence mostly, this
syndrome is identied postnatally. There can be
162
a
b
12 Syndromes andAssociations
N
UL
c
e
UL
d
*
f
g
Fig. 12.7 Mediolateral cleft associated with agenesis of
the corpus callosum. (a) Nose chin view mediolateral
defect (*). (b) Axial view midline interruption in the alveolar arch (arrow). (c) Rendered view of the face. (d)
Hypertelorism. (e) Axial view depicting the absence of CSP
and steer horn appearance of frontal horns (arrowheads),
h
Probst bundles (*). (f) Coronal view depicting the absence
of corpus callosum and CSP.The widely separated frontal
horns (arrowheads) with Probst bundles (*) are seen. (g)
Complete absence of hypoechoic band of tissue, the corpus
callosum in midsagittal view. (h) Abnormal course of anterior cerebral artery with the absence of pericallosal artery
12.3 Pierre Robin Syndrome
163
a
b
*
*
dc
BL
*
*
Fig. 12.8 Bilateral CLP with DORV and single umbilical artery at 14 weeks. (a) Axial view bilateral CLP
(arrows). (b) Parallel outow tracts (*). (c) Two great ves-
associated polyhydramnios in the third trimester
in a substantial number of cases [10–12].
Recent literature has quoted many signs to
identify cleft palate in the rst trimester. The
maxillary gap sign and shortening of PMD are
known markers to identify isolated cleft of the
secondary palate. The recent sign which focused
on the vomeromaxillary junction to identify cleft
of secondary palate is absent superimposed line
sign [13].
As the cleft in PRS is most often posteriorly
located and does not extend anteriorly, neither
is the maxillary gap evident, nor is there a shortening of PMD (Fig. 12.11a). As the superim-
posed line sign throws light on the posterior
sels (*) originating from the right ventricle. (d) Single
umbilical artery, Bladder (BL)
aspect of maxillary line it can identify the posterior defect in the secondary palate, which is a
hallmark feature in PRS.It is one of the key features which leads to a suspicion of PRS if micrognathia is identied at 11–14weeks scan.
The other sign for retrognathia in the rst tri-
mester is the absent mandibular gap sign seen
in the retronasal triangle view. The mandible
appears as two dots below the base of RNT in
normal cases, and in retrognathia, the two dots
fuse together in midline obliterating the normal
mandibular gap [14]. In Fig.12.11b, the coronal view shows the absence of the mandibular
gap, which conrms the presence of retrognathia in PRS.
164
de
12 Syndromes andAssociations
a
bc
de f
UL
UL
Fig. 12.9 Median CLP with SRPS at 13+3 weeks. (a)
Median cleft lip (arrow). (b) Occipital encephalocele
(arrow). (c) Narrow thorax and small omphalocele
LL
(arrow). (d) and (e) Shortening of all four limbs. (f)
Polydactyly. Upper limb (UL), Lower limb (LL)
a b c
UL
LL
M
Fig. 12.10 Goldenhar Gorlin syndrome (a) Unilateral
microphthalmos (arrow) (b) Abnormal ear tag (arrow) (c)
Micrognathia (d) Cleft (arrow) alveolar arch (e) Rendered
view of the face, Goldenhar syndrome-hemifacial microsomia. Mandible (M)
cd
12.3 Pierre Robin Syndrome
165
a
NB
ML
M
b
A
M
M
Fig. 12.11 Micrognathia in Pierre robin syndrome at
13 weeks. (a) Receding chin (M), absent superimposed
line sign (ML). (b) Absence of mandibular gap (arrow).
Another characteristic feature in PRS is the
shape of the mandible, which has a U-shaped
appearance instead of the normal V shape. The
axial view of the mandible on 3D evaluation
appears like a boomerang in PRS (Fig.12.11c).
In PRS, micrognathia is more prominent in the
rst trimester, thus the receding chin in the midsagittal prole of the face can easily be identied
(Fig.12.11a, d).
Figure 12.12 illustrates the rendered axial
view of a normal palate and cleft of the secondary
palate using the ipped face view.
The additional nding in PRS, which is glossoptosis is an important component of the syndrome as this causes airway obstruction
postnatally [15]. In PRS the tongue is vertically
(c) Multiplanar image illustrating the mandible (reference
dot). (d) Rendered view of the face. Mandible (M), Nasal
bone (NB) and Apex (A)
positioned and falls back on the airway, creating
a neonatal emergency.
This vertically positioned tongue can be
identied in the rst trimester itself, as shown in
Fig.12.13. Note the presence of amniotic uid in
the oral cavity, which outlines the tongue which
is placed behind the mandible. Video 12.1 illustrates the abnormal tongue movement in PRS.
The presence of micrognathia along with
absent superimposed line sign and abnormal
tongue position are the ultrasound markers for
the diagnosis of Pierre Robin Syndrome in the
rst trimester.
Recurrence of this syndrome can also be
diagnosed early in gestation with these markers, which aids in planning further course of