Diagnostic ultrasound ( PDFDrive )

CHAPTER 33 The Fetal Face and Neck 1153
14
15 10 1211
1 2 9
8
1
2
3
6
7
sequence, Treacher Collins syndrome, Stickler syndrome, and
velocardiofacial syndrome. hree-dimensional sonography is
oten helpful in assessing the secondary palate, given a favorable
fetal position and gestational age and adequate amniotic luid. 14-
16,96-99
Sagittal fetal MRI is helpful in delineating the normal sot
tissues of the palate and in accurately characterizing palatal
cleting, even when isolated to the posterior secondary (sot)
palate. 88,89,100
4 5 7
30
Soft tissue clefts of the face
14
0 1 2
3
11 10 9
8
3
4
5 6
7
LOWER FACE ABNORMALITIES
Macroglossia and Oral Masses
Macroglossia, an abnormally enlarged tongue, has a variety of
causes and can, at times, be identiied on fetal sonography,
visualized as the tongue protruding outside the oral cavity,
typically on sagittal or axial views (Fig. 33.27). he etiology of
macroglossia includes Beckwith-Wiedemann syndrome, trisomy
21, and vascular malformations such as lymphatic malformation
or hemangioma. 101 If macroglossia is identiied, a careful evaluation
for the associated indings of Beckwith-Wiedemann
syndrome and for markers of trisomy 21 should follow.
15
12
3
7 7 8
Conditions Associated With Macroglossia
0
1 2
Bony clefts of the face
FIG. 33.22 Classiication of Tessier Clefts. These clefts are classiied
by the relationship of the cleft to the mouth, nose, and eye sockets and
are numbered from 1 to 14 with the midline designated as 0. Knowledge
of these types of clefts is important for prenatal imaging, so that when
unusual clefts are seen, they can be recognized as part of this spectrum.
(Modiied from Tessier P. Anatomical classiication: facial, cranio-facial
and latero-facial clefts. J Maxillofac Surg 1976;4:69-92. 92 )
Tessier clets can involve either the sot tissues (e.g., hairline,
eyebrows, eyelids, nostrils, lips, ears) or the skeleton. 92 In some
cases 3-D ultrasound has identiied facial clets not detectable
on 2-D images. 93
Isolated Cleft of Secondary Palate
Isolated clets of the secondary palate are embryologically distinct
from clet lip or palate and are less common, occurring in
approximately 1 per 2500 live births. 64 his abnormality is rarely 94
identiied on prenatal sonography because of shadowing from
overlying bony structures. Sonographic diagnosis is based on
secondary signs, such as abnormal oropharyngeal luid low with
color Doppler imaging 71 and high position of the tongue. 74,76,95
Clet sot palate without clet lip is more strongly associated with
syndromes and chromosomal anomalies than clet palate in
concert with clet lip. 76
Syndromes associated with clets of the secondary palate
(without clet lip) include Goldenhar syndrome, Pierre-Robin
Beckwith-Wiedemann syndrome
Trisomy 21
Congenital hypothyroidism
Lymphangioma
Hemangioma
Inborn error of metabolism
Isolated autosomal dominant trait
Lingual thyroid
Neuroibroma
Epignathus
Micrognathia and Retrognathia
Micrognathia is a small chin, and retrognathia (retrognathism)
is a posteriorly displaced chin. hese are distinct abnormalities
that frequently occur together. Pierre-Robin sequence is the
clinical triad of micrognathia, glossoptosis (downward displacement
of the tongue), and subsequent airway obstruction, oten
associated with clet sot palate (Fig. 33.28). his inding is
associated with syndromes (e.g., Stickler, velocardiofacial, Miller-
Diecker, Beckwith-Wiedemann, Treacher Collins, Pfeifer,
femoral-facial); chromosomal anomalies (typically trisomy 18
or 13); and skeletal dysplasias (e.g., diastrophic, spondyloepiphyseal,
congenital, camptomelic). If the abnormality is severe
enough to interfere with fetal swallowing in utero, polyhydramnios
may result. Micrognathia can lead to substantial feeding diiculties
and problems with airway management ater birth. Prenatal
diagnosis is thus critical to delivery planning.
Micrognathia is best seen on midsagittal views of the fetal
face and is identiied by subjective assessment by the sonologist
(Video 33.4). Although there have been attempts to standardize