Добавил:
Sekretar
kiopkiopkiop18@yandex.ru
t.me/Prokururor I Вовсе не секретарь, но почту проверяю
Опубликованный материал нарушает ваши авторские права? Сообщите нам.
Вуз:
Предмет:
Файл:Ординатура / Хирургия / Библиотека им академика М.И. Перельмана / Книга_5796_Библиотеки_им_академика_М_И_Перельмана.pdf
460
Chapter 16 Craniofacial Anomalies
in 45%, of the metopic in 28%, and of a single coronal
suture in 24%.
66
Crouzon and Apert syndromes are the most common
of the craniosynostosis syndromes. Crouzon syndrome
occurs in ∼1 in 25,000 births. It may be transmitted as an
autosomal dominant genetic condition or appear as a new
mutation. In Crouzon syndrome craniosynostosis usually involves the coronal, sagittal, and lambdoid sutures.
Other common features include hypertelorism, exophthalmos and external strabismus, parrot-beaked nose, short
upper lip, hypoplastic maxilla, and a relative mandibular
prognathism.
67
The phenotype of an infant with Crouzon
syndrome can vary in severity from a mild presentation
with subtle midface characteristics to severe forms with
multiple cranial sutures fused and marked midface and
ocular problems. The incidence of Apert syndrome is ∼1
in 100,000 births, and most cases are fresh mutations. The
general craniofacial features of a child with Apert syndrome are similar to those in Crouzon syndrome; however,
there is not as much variability between cases, and the
degree of presentation is more severe.
67
Pfeiffer syndrome occurs in 1 in 100,000 births and
is characterized by closure of all sutures with cloverleaf
skull (also referred to as Kleeblattschädel syndrome), or
by trigonocephaly, which is due to closure of the metopic
suture resulting in a triangular forehead. Associated anomalies may include broad and deviated thumbs and big toes,
partial syndactyly on hands and feet, hydrocephaly, severe
ocular proptosis, ankylosed elbows, abnormal viscera, and
slow development.
even rarer and presents with anomalies involving the face,
brain, bones, and heart.
68
Shprintzen-Goldberg syndrome is
69
The experience with prenatal diagnosis of craniosynostosis is limited and consists mostly of case reports
and small series of severe types. In general, suspicion
arises because of an abnormal shape of the fetal head
( Figure 16–28 ). Cloverleaf skull has a typical appearance,
although this may appear only in late gestation: The head
contour is polylobulated, with deep notches in the site of
the coronal suture, the metopic suture is widened, and
there is hypertelorism and exophthalmos ( Figures 16–28
and 16–29 ).
6,70–73
Apert syndrome may be suspected early
in pregnancy because of the characteristic “mittenlike”
hand, but craniosynostosis is usually not detected until
the second trimester
74
or even later on,
75
depending on its
severity ( Figure 16–30 ). Three-dimensional US is useful in
these cases because the demonstration of a wide metopic
suture with the maximum mode increases the index of
suspicion ( Figure 16–31 ). Crouzon syndrome has been
demonstrated by the presence of cranial findings similar to
those encountered with Apert syndrome: hypertelorism,
exophthalmos, frontal bossing, notching at the level of the
coronal sutures, and wide metopic suture.
Miller et al
76
reviewed 109 cases of postnatally diag-
6
nosed craniosynostosis, but only 19 prenatal sonographic
images were available for retrospective review; the authors
were able to recognize abnormal findings in only 12 of
them, including children with cloverleaf skull, SaethreChotzen syndrome, Crouzon syndrome, bilateral and unilateral coronal suture synostoses, and trigonocephaly.
Delahaye et al
77
reviewed retrospectively the US findings in 40 fetuses at risk of craniosynostosis; of these,
16 had a familiar history, and 24 had abnormal sonographic findings detected at a standard examination.
Craniosynostosis was suspected when cranial deformation
was present, but a definitive diagnosis was made only after
direct visualization of a loss of normal hypoechogenicity
of any suture.
77
In the group of patients with familiar history, recurrences occurred in five, and although all of them
were diagnosed, the sutures were always open in the four
fetuses examined in the second trimester. In the group of
24 patients referred because of suspicious findings (15 with
dolichocephaly, 1 with brachycephaly, and 8 with facial
dysmorphism), only 3 were affected by syndromic craniosynostosis, and 1 case was a false-positive.
77
This experience suggests that the majority of cases
are missed antenatally, and that there is potential for
false-positive diagnoses. From our experience, we are
aware of many infants who were diagnosed after birth
with craniosynostosis and had completely unremarkable
prenatal sonograms. This may be due to the conjunction
of different factors: Craniosynostosis may develop late in
pregnancy; fetuses with closure of the sagittal suture, the
most frequent type of craniosynostosis, may present with
dolichocephaly, a frequent finding during fetal life that is
uneventful in the vast majority of cases; and imaging sonographically a seemingly open suture does not exclude premature closure at some other segment of the same suture.
A
Figure 16–28. Sonography of normal fetal head and different types of craniosynostosis. (A) Normal fetus. The head has a regular ovular shape, and
the coronal and lambdoid suture are well demonstrated as linear gaps in the ossified calvarium. (B) Bilateral coronal synostosis in a fetus with Crouzon
syndrome. The coronal suture is not seen, and there is a notch in the contour of the head. (C) Trigonocephaly. The forehead is triangular. (D) Cloverleaf
skull. Sutures are not seen, and the contour of the head is markedly irregular. (Reproduced, with permission, from Visual Encyclopedia of Ultrasound in
Obstetrics and Gynecology, www.isuog.org.)
B
C
D
Chapter 16 Craniofacial Anomalies
461
Figure 16–29. 3D US in a third-trimester fetus with severe Pfeiffer syndrome leading to neonatal death. Note the cloverleaf skull with frontal bossing
and hypertelorism, Eeophthalmus with typically open eyelids, and prognatism. (Reproduced, with permission, from Visual Encyclopedia of Ultrasound
in Obstetrics and Gynecology, www.isuog.org.)
AB CD
EF GH
Figure 16–30.
nal sutures (arrows), also shown in the post abortion CT (E). (B) Median US shows frontal bossing, confirmed following delivery (F) and hypogenesis of the
corpus callosum (arrows). (C) 3D US reconstruction shows the wide opening of the metopic suture and anterior fontanel; this finding was confirmed by post
abortion CT (E) and autopsy (G). Ultrasound (D) and autopsy specimen (H) demonstration of the “mitten-like” hand characteristic of Apert syndrome.
Apert syndrome diagnosed at 22 weeks of gestation. (A) Axial US shows the abnormal shape of the cranium due to synostosis of the coro-
462
Chapter 16 Craniofacial Anomalies
Large metopic suture
Hypertelorism
A
Figure 16–31.
mode rendering demonstrating a wide metopic suture and no demonstrable coronal suture. (Reproduced, with permission, from Visual Encyclopedia of
Ultrasound in Obstetrics and Gynecology, www.isuog.org.)
Cranial findings in a midtrimester fetus with Apert syndrome. (A) 2D US demonstrating hypertelorism. (B), (C) 3D US with maximum
Even severe forms may be associated only with subtle findings, particularly in early gestation.
As suggested by Delahaye et al,
or when the diagnosis of craniosynostosis is suspected,
the initial analysis of the US images should include examination for overall head size, including circumference and
cranial index; symmetry and continuity of the calvarium;
size and shape of the orbits; brain anatomy; and detailed
fetal examination. Following these steps, each suture
should be assessed separately, searching for the loss of
their characteristic hypoechogenic pattern and apparent
overriding of the sutures ( Figures 16–31 and 16–32 ).
We have found that in patients with sagittal craniosynostosis, difficulty in the visualization of the median
plane may be the first, and sometimes the only, sign of
suture closure ( Figure 16–33 ). Recently, reports on 3D
US have described the normal appearance of the cranial
sutures and fontanelles throughout pregnancy,
has been suggested that this technique may be valuable
in the diagnosis of craniosynostosis.
B
77
in high-risk patients
78 , 79
and it
79 – 81
Apart from the
C
demonstration of panoramic views of the cranium using
the standard surface mode, the transparent or maximum
mode allows better visualization of the sutures, which
is particularly useful for demonstrating the abnormal
compensatory opening of the patent sutures that occurs
when there is craniostenosis
The use of MRI in the diagnosis of fetal craniosynostosis has been proposed; published reports showed the
abnormal shape of the head ( Figure 16–36 ) and in some
cases the presence of associated anomalies, but until now
direct demonstration of abnormal sutures has not been
described.
uncertain cases.
83 – 85
Genetic analysis may also be helpful in
86
The neurodevelopmental prognosis of individuals
with craniosynostosis depends fundamentally on the etiology of the disease. Although syndromic cases and those
with associated malformations have more sequelae than
those with isolated, single-suture synostosis, the latter are
at increased risk as well.
found that, even when treated early in life, children with
No coronal suture
82
( Figures 16–31 to 16–35 ).
87
In a recent study, Chieffo et al
88
A
Figure 16–32.
the metopic suture. (B) Metopic craniosynostosis is demonstrated by the presence of a hyperechogenic frontal ridge ( arrows ).
Isolated metopic craniosynostosis at 32 postmenstrual weeks. (A) The shape of the frontal bones raises the suspicion of early closure of
B
Chapter 16 Craniofacial Anomalies
463
Figure 16–33. Autosomal dominant sagittal craniosynostosis at 27
postmenstrual weeks. The anterior portion of the brain appears normal,
but visualization is sharply impaired for the posterior portion of the brain
( arrows ). This phenomenon is due to the fact that the anterior fontanelle
is open, but the sagittal suture is closed.
Figure 16–34. Isolated sagittal craniosynostosis at 27 postmenstrual
weeks. The parietal bones are continuous; the hypechogenic suture is
not demonstrated ( arrow ). Note the acoustic shadow produced by the
synostosis ( arrowheads ).
AB CD
Figure 16–35.
suture and mild hypotelorism ( arrows ). (C) 3D US in maximum rendering mode of the skull confirming mild hypotelorism and no evidence of metopic
suture ( arrow ). (D) 3D maximum mode rendering of the skull in a lateral projection demonstrating a patent coronal suture ( arrow ). (Reproduced, with
permission, from Visual Encyclopedia of Ultrasound in Obstetrics and Gynecology, www.isuog.org.)
Trigonocephaly in a second-trimester fetus. (A), (B) 2D US demonstrating triangular forehead without evidence of central metopic
Figure 16–36. Fetal MRI at 30 postmenstrual weeks in a fetus with
isolated metopic craniosynostosis.
464
Chapter 16 Craniofacial Anomalies
sagittal or unilateral coronal craniosynostosis have neurodevelopmental deficits: 7% of those with sagittal craniosynostosis demonstrated visuospatial and constructional
ability defects with associated visual memory recall deficits, 17% also exhibited selective and sustained attention
deficits, and approximately one-third (30%) of the children
with anterior plagiocephaly had processing and planning
speech deficits. Children with metopic craniosynostosis
appear to have a better prognosis.
89
REFERENCES
1. Benacerraf BR, Frigoletto FD, Jr., Bieber FR. The fetal face:
Ultrasound examination. Radiology. 1984;153(2):495–497.
2. Nyberg DA, Sickler GK, Hegge FN, Kramer DJ, Kropp RJ. Fetal cleft
lip with and without cleft palate: US classification and correlation
with outcome. Radiology. 1995;195(3):677–684.
3. Pilu G, Reece EA, Romero R, Bovicelli L, Hobbins JC. Prenatal
diagnosis of craniofacial malformations with ultrasonography. Am J
Obstet Gynecol. 1986;155(1):45–50.
4. Rotten D, Levaillant JM. Two- and three-dimensional sonographic
assessment of the fetal face: 2. Analysis of cleft lip, alveolus and palate. Ultrasound Obstet Gynecol. 2004;24(4):402–411.
5. Rotten D, Levaillant JM, Martinez H, Ducou le Pointe H, Vicaut E.
The fetal mandible: A 2D and 3D sonographic approach to the diagnosis of retrognathia and micrognathia. Ultrasound Obstet Gynecol.
2002;19(2):122–130.
6. Ghi T, Perolo A, Banzi C, Contratti G, et al. Two-dimensional ultrasound is accurate in the diagnosis of fetal craniofacial malformation.
Ultrasound Obstet Gynecol. 2002;19(6):543–551.
7. Jones MC. Prenatal diagnosis of cleft lip and palate: Detection
rates, accuracy of ultrasonography, associated anomalies, and
strategies for counseling. Cleft Palate Craniofac J. 2002;39(2):
169–173.
8. Sohan K, Freer M, Mercer N, Soothill P, Kyle P. Prenatal detection
of facial clefts. Fetal Diagn Ther. 2001;16(4):196–199.
9. Stoll C, Dott B, Alembik Y, Roth M. Evaluation of prenatal diagnosis of cleft lip/palate by foetal ultrasonographic examination. Ann
Genet. 2000;43(1):11–14.
10. Wayne C, Cook K, Sairam S, Hollis B, Thilaganathan B. Sensitivity
and accuracy of routine antenatal ultrasound screening for isolated
facial clefts. Br J Radiol. 2002;75(895):584–589.
11. Campbell S, Lees C, Moscoso G, Hall P. Ultrasound antenatal diagnosis of cleft palate by a new technique: The 3D “reverse face” view.
Ultrasound Obstet Gynecol. 2005;25(1):12–18.
12. Campbell S, Lees CC. The three-dimensional reverse face (3D RF)
view for the diagnosis of cleft palate. Ultrasound Obstet Gynecol.
2003;22(5):552–554.
13. Pilu G, Segata M. A novel technique for visualization of the
normal and cleft fetal secondary palate: Angled insonation and
three-dimensional ultrasound. Ultrasound Obstet Gynecol.
2007;29(2):166–169.
14. Platt LD, Devore GR, Pretorius DH. Improving cleft palate/cleft lip
antenatal diagnosis by 3-dimensional sonography: The “flipped face”
view. J Ultrasound Med. 2006;25(11):1423–1430.
15. Ten PM, Pedregosa JP, Santacruz B, Adiego B, Barron E, Sepulveda
W. Three-dimensional ultrasound diagnosis of cleft palate: Reverse
face, flipped face or oblique face—which method is best? Ultrasound
Obstet Gynecol. 2009;33(4):399–406.
16. 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. 200315;23(12):
970–975.
17. Kazan-Tannus JF, Levine D, McKenzie C, et al. Real-time magnetic
resonance imaging aids prenatal diagnosis of isolated cleft palate.
J Ultrasound Med. 2005;24(11):1533–1540.
18. Bellis TH, Wohlgemuth B. The incidence of cleft lip and palate
deformities in the south-east of Scotland (1971–1990). Br J Orthod.
1999;26(2):121–125.
19. Berge SJ, Plath H, Van de Vondel PT, et al. Fetal cleft lip and palate: Sonographic diagnosis, chromosomal abnormalities, associated
anomalies and postnatal outcome in 70 fetuses. Ultrasound Obstet
Gynecol. 2001;18(5):422–431.
20. Nicolaides KH, Salvesen DR, Snijders RJ, Gosden CM. Fetal facial
defects: Associated malformations and chromosomal abnormalities.
Fetal Diagn Ther. 1993;8(1):1–9.
21. Gabrielli S, Piva M, Ghi T, et al. Bilateral cleft lip and palate without premaxillary protrusion is associated with lethal aneuploidies.
Ultrasound Obstet Gynecol. 2009;34(4):416–418.
22. Mailath-Pokorny M, Worda C, Krampl-Bettelheim E, Watzinger
F, Brugger PC, Prayer D. What does magnetic resonance imaging
add to the prenatal ultrasound diagnosis of facial clefts? Ultrasound
Obstet Gynecol. 2010;36(4):445–451.
23. Sepulveda W, Wong AE, Martinez-Ten P, Perez-Pedregosa J.
Retronasal triangle: A sonographic landmark for the screening
of cleft palate in the first trimester. Ultrasound Obstet Gynecol.
2010;35(1):7–13.
24. 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.
25. David DJ, Moore MH, Cooter RD. Tessier clefts revisited with a third
dimension. Cleft Palate J. 1989;26(3):163–184, discussion 84–85.
26. Kawamoto HK, Jr. The kaleidoscopic world of rare craniofacial
clefts: Order out of chaos (Tessier classification). Clin Plast Surg.
1976;3(4):529–572.
27. Blaas HG, Eriksson AG, Salvesen KA, et al. Brains and faces in
holoprosencephaly: Pre- and postnatal description of 30 cases.
Ultrasound Obstet Gynecol. 2002;19(1):24–38.
28. Pilu G, Romero R, Rizzo N, Jeanty P, Bovicelli L, Hobbins JC.
Criteria for the prenatal diagnosis of holoprosencephaly. Am J
Perinatol. 1987;4(1):41–49.
29. Chervenak FA, Tortora M, Mayden K, et al. Antenatal diagnosis of median cleft face syndrome: Sonographic demonstration of cleft lip and hypertelorism. Am J Obstet Gynecol. 1984;
149(1):94–97.
30. DeMyer W. The median cleft face syndrome: Differential diagnosis
of cranium bifidum occultum, hypertelorism, and median cleft nose,
lip, and palate. Neurology. 1967;17(10):961–971.
31. Asai S, Tanaka M, Miyakoshi K, et al. A case of Tessier number 7 cleft
with severe micrognathia: Prenatal sonographic and three-dimensional
helical computed tomographic images. Prenat Diagn. 2010;30(2):
159–161.
32. Pilu G, Visentin A, Ambrosini G, D’Antona D, Andrisani A. Threedimensional sonography of unilateral Tessier number 7 cleft in a
mid-trimester fetus. Ultrasound Obstet Gynecol. 2005;26(1):98–99.
33. Presti F, Celentano C, Marcazzo L, Dolcetta G, Prefumo F.
Ultrasound prenatal diagnosis of a lateral facial cleft (Tessier
number 7). Ultrasound Obstet Gynecol. 2004;23(6):606–608.
34. Blazer S, Zimmer EZ, Mezer E, Bronshtein M. Early and late
onset fetal microphthalmia. Am J Obstet Gynecol. 2006;194(5):
1354–1359.
35. Bronshtein M, Zimmer E, Gershoni-Baruch R, Yoffe N, Meyer H,
Blumenfeld Z. First- and second-trimester diagnosis of fetal ocular
defects and associated anomalies: Report of eight cases. Obstet
Gynecol. 1991;77(3):443–449.
36. Ghi T, Contro E, Carletti A, et al. Prenatal sonographic imaging
of Goldenhar syndrome associated with cystic eye. Prenat Diagn.
2008;28(4):362–363.
37. Tamas DE, Mahony BS, Bowie JD, Woodruff WW III, Kay HH.
Prenatal sonographic diagnosis of hemifacial microsomia (GoldenharGorlin syndrome). J Ultrasound Med. 1986;5(8):461–463.
38. Rosner M, Bronshtein M, Leikomovitz P, Berkenstat M, Barkai G,
Barishak RY. Transvaginal sonographic diagnosis of cataract in a
fetus. Eur J Ophthalmol. 1996;6(1):90–93.
39. Monteagudo A, Timor-Tritsch IE, Friedman AH, Santos R.
Autosomal dominant cataracts of the fetus: Early detection by transvaginal ultrasound. Ultrasound Obstet Gynecol. 1996;8(2):104–108.
40. Davis WK, Mahony BS, Carroll BA, Bowie JD. Antenatal sonographic detection of benign dacrocystoceles (lacrimal duct cysts).
J Ultrasound Med. 1987;6(8):461–465.
41. Goldberg H, Sebire NJ, Holwell D, Hill S. Prenatal diagnosis of
bilateral dacrocystoceles. Ultrasound Obstet Gynecol. 2000;15(5):
448–489.
Chapter 16 Craniofacial Anomalies
465
42. Bault JP, Quarello E. Retinal coloboma: Prenatal diagnosis using
a new technique, the “virtual fetal eyeground.” Ultrasound Obstet
Gynecol. 2009;33(4):495–496.
43. Paladini D. Fetal micrognathia: Almost always an ominous finding.
Ultrasound Obstet Gynecol. 2012;35(4):377–384.
44. Hsieh YY, Chang CC, Tsai HD, Yang TC, Lee CC, Tsai CH.
The prenatal diagnosis of Pierre-Robin sequence. Prenat Diagn.
1999;19(6):567–569.
45. Lee W, McNie B, Chaiworapongsa T, et al. Three-dimensional
ultrasonographic presentation of micrognathia. J Ultrasound Med.
2002;21(7):775–781.
46. Paladini D, Morra T, Teodoro A, Lamberti A, Tremolaterra F,
Martinelli P. Objective diagnosis of micrognathia in the fetus: The
jaw index. Obstet Gynecol. 1999;93(3):382–386.
47. Pilu G, Romero R, Reece EA, Jeanty P, Hobbins JC. The prenatal
diagnosis of Robin anomalad. Am J Obstet Gynecol. 1986;154(3):
630–632.
48. Vettraino IM, Lee W, Bronsteen RA, Harper CE, Aughton D,
Comstock CH. Clinical outcome of fetuses with sonographic diagnosis of isolated micrognathia. Obstet Gynecol. 2003;102(4):801–805.
49. Chervenak FA, Tortora M, Moya FR, Hobbins JC. Antenatal sonographic diagnosis of epignathus. J Ultrasound Med. 1984;3(5):
235–237.
50. Gull I, Wolman I, Har-Toov J, et al. Antenatal sonographic diagnosis
of epignathus at 15 weeks of pregnancy. Ultrasound Obstet Gynecol.
1999;13(4):271–273.
51. Chen CP, Shih JC, Huang JK, et al. Two- and three-dimensional
ultrasound demonstration of a giant epignathus. Ultrasound Obstet
Gynecol. 2003;21(4):407–409.
52. Dar P, Rosenthal J, Factor S, Dubiosso R, Murthy AS. First-trimester
diagnosis of fetal epignathus with 2- and 3-dimensional sonography.
J Ultrasound Med. 2009;28(12):1743–1746.
53. Ruano R, Benachi A, Aubry MC, Parat S, Dommergues M, Manach
Y. The impact of 3-dimensional ultrasonography on perinatal management of a large epignathus teratoma without ex utero intrapartum treatment. J Pediatr Surg. 2005;40(11):e31–e34.
54. Sherer DM, Zigalo A, Abulafia O. Prenatal 3-dimensional sonographic diagnosis of a massive fetal epignathus occluding the oral
orifice and both nostrils at 35 weeks’ gestation. J Ultrasound Med.
2006;25(11):1503–1505.
55. Bornstein E, Boozarjomehri F, Monteagudo A, Santos R, Milla SS,
Timor-Tritsch IE. Diagnostic and prognostic aspects in the sonographic evaluation of a fetus with an oral mass. J Ultrasound Med.
2009;28(5):689–693.
56. Munro IR, Sinclair WJ, Rudd NL. Maxillonasal dysplasia (Binder’s
syndrome). Plast Reconstr Surg. 1979;63(5):657–663.
57. Cook K, Prefumo F, Presti F, Homfray T, Campbell S. The
prenatal diagnosis of Binder syndrome before 24 weeks of gestation:
Case report. Ultrasound Obstet Gynecol. 2000;16(6):578–581.
58. Cuillier F, Cartault F, Lemaire P, Alessandri JL. Maxillo-nasal dysplasia (Binder syndrome): Antenatal discovery and implications.
Fetal Diagn Ther. 2005;20(4):301–305.
59. Lajeunie E, Le Merrer M, Bonaiti-Pellie C, Marchac D, Renier D.
Genetic study of nonsyndromic coronal craniosynostosis. Am J Med
Genet. 1995;55(4):500–504.
60. Boulet SL, Rasmussen SA, Honein MA. A population-based study
of craniosynostosis in metropolitan Atlanta, 1989–2003. Am J Med
Genet A. 2008;146A(8):984–991.
61. Wilkie AO, Byren JC, Hurst JA, et al. Prevalence and complications
of single-gene and chromosomal disorders in craniosynostosis.
Pediatrics. 2010;126(2):e391–e400.
62. Robin NH, Falk MJ, Haldeman-Englert CR. FGFR-related
Craniosynostosis Syndromes. Seattle: University of Washington;
1998.
63. Anderson FM, Geiger L. Craniosynostosis: A survey of 204 cases.
J Neurosurg. 1965;22:229–240.
64. Shillito J, Jr, Matson DD. Craniosynostosis: A review of 519 surgical
patients. Pediatrics. 1968;41(4):829–853.
65. van der Meulen J, van der Hulst R, van Adrichem L, Arnaud E, ChinShong D, Duncan C, et al. The increase of metopic synostosis: A
pan-European observation. J Craniofac Surg. 2009;20(2):283–286.
66. Kolar JC. An epidemiological study of nonsyndromal craniosynostoses. J Craniofac Surg. 2011;22(1):47–49.
67. Carinci F, Pezzetti F, Locci P, et al. Apert and Crouzon syndromes:
Clinical findings, genes and extracellular matrix. J Craniofac Surg.
2005;16(3):361–368.
68. Vogels A, Fryns JP. Pfeiffer syndrome. Orphanet J Rare Dis.
2006;1:19.
69. Greally M. Shprintzen-Goldberg Syndrome. Seattle: University of
Washington; 2006.
70. Brahman S, Jenna R, Wittenauer HJ. Sonographic in utero appearance of Kleeblattschadel syndrome. J Clin Ultrasound. 1979;7(6):
481–484.
71. Salvo AF. In utero diagnosis of Kleeblattschadel (cloverleaf skull).
Prenat Diagn. 1981;1(2):141–145.
72. Benacerraf BR, Spiro R, Mitchell AG. Using three-dimensional
ultrasound to detect craniosynostosis in a fetus with Pfeiffer syndrome. Ultrasound Obstet Gynecol. 2000;16(4):391–394.
73. Saal HM, Bulas DI, Allen JF, Vezina LG, Walton D, Rosenbaum
KN. Patient with craniosynostosis and marfanoid phenotype
(Shprintzen-Goldberg syndrome) and cloverleaf skull. Am J Med
Genet. 1995;57(4):573–578.
74. Skidmore DL, Pai AP, Toi A, Steele L, Chitayat D. Prenatal diagnosis of Apert syndrome: Report of two cases. Prenat Diagn.
2003;23(12):1009–1013.
75. Filkins K, Russo JF, Boehmer S, et al. Prenatal ultrasonographic
and molecular diagnosis of Apert syndrome. Prenat Diagn.
1997;17(11):1081–1084.
76. Miller C, Losken HW, Towbin R, et al. Ultrasound diagnosis of craniosynostosis. Cleft Palate Craniofac J. 2002;39(1):73–80.
77. Delahaye S, Bernard JP, Renier D, Ville Y. Prenatal ultrasound
diagnosis of fetal craniosynostosis. Ultrasound Obstet Gynecol.
2003;21(4):347–53.
78. Ginath S, Debby A, Malinger G. Demonstration of cranial sutures
and fontanelles at 15 to 16 weeks of gestation: A comparison
between two-dimensional and three-dimensional ultrasonography.
Prenat Diagn. 2004;24(10):812–815.
79. Chaoui R, Levaillant JM, Benoit B, Faro C, Wegrzyn P, Nicolaides
KH. Three-dimensional sonographic description of abnormal
metopic suture in second- and third-trimester fetuses. Ultrasound
Obstet Gynecol. 2005;26(7):761–764.
80. Esser T, Rogalla P, Bamberg C, Kalache KD. Application of the
three-dimensional maximum mode in prenatal diagnosis of Apert
syndrome. Am J Obstet Gynecol. 2005;193(5):1743–1745.
81. Lam H, Lo TK, Lau E, Chin R, Tang L. The use of 2- and 3-dimensional sonographic scans in the evaluation of cranial sutures: Prenatal
diagnosis of Apert syndrome. J Ultrasound Med. 2006;25(11):
1481–1484.
82. Faro C, Chaoui R, Wegrzyn P, Levaillant JM, Benoit B,
Nicolaides KH. Metopic suture in fetuses with Apert syndrome
at 22–27 weeks of gestation. Ultrasound Obstet Gynecol. 2006;
27(1):28–33.
83. Itoh S, Nojima M, Yoshida K. Usefulness of magnetic resonance
imaging for accurate diagnosis of Pfeiffer syndrome type II in utero.
Fetal Diagn Ther. 2006;21(2):168–171.
84. Fjortoft MI, Sevely A, Boetto S, Kessler S, Sarramon MF, Rolland
M. Prenatal diagnosis of craniosynostosis: Value of MR imaging.
Neuroradiology. 2007;49(6):515–521.
85. Weber B, Schwabegger AH, Vodopiutz J, Janecke AR, Forstner R,
Steiner H. Prenatal diagnosis of Apert syndrome with cloverleaf
skull deformity using ultrasound, fetal magnetic resonance imaging
and genetic analysis. Fetal Diagn Ther. 2010;27(1):51–56.
86. Nazzaro A, Della Monica M, Lonardo F, et al. Prenatal ultrasound diagnosis of a case of Pfeiffer syndrome without cloverleaf
skull and review of the literature. Prenat Diagn. 2004;24(11):
918–922.
87. Kapp-Simon KA, Speltz ML, Cunningham ML, Patel PK, Tomita T.
Neurodevelopment of children with single suture craniosynostosis:
A review. Childs Nerv Syst. 2007;23(3):269–281.
88. Chieffo D, Tamburrini G, Massimi L, et al. Long-term neuropsychological development in single-suture craniosynostosis treated early.
J Neurosurg Pediatr. 2010;5(3):232–237.
89. Warschausky S, Angobaldo J, Kewman D, Buchman S, Muraszko
KM, Azengart A. Early development of infants with untreated
metopic craniosynostosis. Plast Reconstr Surg. 2005;115(6):
1518–1523.
This page intentionally left blank
Chapter 17
VERTEBRAL ANOMALIES
Yinon Gilboa ● Eldad Katorza ● Reuven Achiron
KEY POINTS
1. Sonographic evaluation of the vertebral column and
the spine is a requirement of almost all governing
bodies.
2. Starting the 13th postmenstrual weeks it is possible
to ascertain a normal spine as well as a number of its
anomalies.
3. 3D ultrasound is increasingly used and became
instrumental in imaging the vertebral column in the
three orthogonal planes using the X-ray or maximum
mode rendering.
4. MRI may at times be necessary to complete the workup.
The assessment of the fetal vertebral column by transabdominal ultrasound (US) is an essential part of the secondtrimester anatomical scan. The possibility of evaluating
the spine at as early as 13 weeks of gestation by transvaginal high-resolution US has greatly improve its diagnostic
capabilities and enabled the diagnosis of some of the
common vertebral anomalies at this stage of pregnancy.
Because not all spinal anomalies may be diagnosed during
the late first or early second trimester, transabdominal US
continues to be the “everyday” tool in the diagnosis of spinal and spinal cord malformations.
1
One example of this is
the tethered cord that may be visible, in some but not all
the cases, from the the midsecond trimester as the terminal spinal cord becomes more clearly defined.
The introduction of volume US with minimum intensity projection, or radiograph mode, contributes to projecting and locating the exact level of the malformation.
2
The
additional value of this technology is still controversial,
and the projection of a three-dimensional (3D) acquisition
of the spine is not always reassuring, as it may miss small
lesions in the lower spine.
3
Magnetic resonance imaging (MRI) has been proposed as an additional tool in the diagnosis and counseling
of patients with spinal cord anomalies, particularly regarding the evaluation of the spinal canal and its contents. So
far this technology has not been widely used, but initial
reports appear promising.
4 , 5
In this chapter, the terms
changeably.
DEVELOPMENT OF THE
SPINE AND SPINAL CORD
The vertebrae develop during the sixth postmenstrual
week of gestation, when chondrification centers appear for
each mesenchymal vertebra. Each vertebral body has two
primary ossification centers, one dorsal and one ventral.
These centers fuse to form the centrum, which creates
three primary ossification loci by the end of embryonic
development; one develops in the vertebral body and the
other two on each half of the vertebral arch.
6
According to
US studies, by 16 postmenstrual weeks, S1 and S2 ossification centers are almost all visualized in coronal planes, but
S3 is present in only about half of these fetuses; the nucleus
of S4 develops slightly later and is observed in all fetuses at
21 weeks.
7
The posterior arch synchondrosis is not ossified
in fetuses.
Closure of the neural tube seems to begin separately
at several different levels. Progressive folding and closure
of the neural structures and separation from ectoderm
proceed both cranially and caudally from the point of
initial closure, closing the neural tube in both directions.
The most caudal end of the neural tube closes by 27 days
of gestation. By 38 days, the lowest segment eventually
becomes the most caudal portion of the conus medullaris,
filum terminale, and ventriculus terminalis (focal dilation
of the central canal in the conus medullaris).
8
Because development and growth of the spinal cord
are different from that of the vertebrae, the position of
the conus medullaris in relation to the vertebral column
is variable throughout pregnancy. On sagittal images,
between 13 and 18 postmenstrual weeks, the conus medullaris is located below or at the level of L4 in all fetuses.
Then it undergoes progressive ascent until term, when it is
always located above the level of L2–L3 ( Figure 17–1 ).
9
10
ULTRASONOGRAPHIC EVALUATION
OF THE FETAL SPINE
Technique and Normal Anatomy
Whenever possible, US should be performed, when the fetal
spine is positioned close to the transducer. Manipulation
of the fetal body to correctly position the fetus is usually
468
Chapter 17 Vertebral Anomalies
16w
S1
L5
A
Figure 17–1. Normal anatomy of the spine and the spinal cord in fetuses at 16 (A), 24 (B), and 28 (C) postmenstrual weeks in the sagittal section.
Conus medullaris ( large arrow ); dura mater ( small arrow ). Note the progressive displacement of the position of the conus medullaris from L5 at 16 post-
menstrual. Weeks to L2–L3 at 28 postmenstrual weeks.
relatively easy during the late first and early second trimesters. Closer to term it may be more difficult and in some
cases impossible due to fetal size and the relatively lower
amount of amniotic fluid. If possible, one should minimize
the applied pressure to the transducer to leave amniotic
fluid between the proximal uterine wall and the spine, to
serve as an acoustic window. It is important to remember
that the quality of US images is highly influenced by maternal habitus and fetal position, therefore in some cases
optimal visualization of the fetal spine may be difficult or
even impossible. Two-dimensional (2D) US evaluation of
the spine is adequately covered in most US textbooks. We
would like to discuss here the somewhat less employed but
highly diagnostic yield of 3D US imaging the vertebrae.
The spine may be evaluated using three planes: sagittal, coronal, and axial ( Figure 17–2 ). Usually only two
of these planes may be obtained by 2D US. Sonographic
evaluation of the fetal spine is possible due to the presence
of the previously mentioned ossification centers within the
fetal vertebrae.
1 , 11
24w 28w
L3
L4
L3
BC
L2
The sagittal planes enable visualization of the lateral
ossification centers and each vertebral body. This is done
by tilting the transducer from the midline (where the
vertebral bodies are depicted) by about 15° to the right or
left to reveal the lateral ossification centers. Fetal kyphosis
may be identified in this plane. The skin, represented by
an echogenic contour, should be meticulously evaluated to
rule out the presence of skin-covered spinal dysraphism,
which may be difficult or even impossible to detect,
particularly before the third trimester. The curvature of
the sacrum should be evaluated to include the normal
anatomy of the rump to exclude sacral agenesis or sacrococcygeal teratoma. The spinal cord and meninges may
be clearly visualized in these planes. Cord visualization is
optimal in the fetus during the first and second trimesters
due to partial bone mineralization and the small amount
of soft tissue at the dorsum, creating a better sonolucent
region than in the third trimester (see Figure 17–2 ).
The spinal cord is recognized as a hypoechoic tubular structure bordered by two echogenic lines, each line
formed by the juxtaposed arachnoid and pia mater, with a
hyperechoic central line representing the neural canal or
the anterior median fissure.
12
As pregnancy advances, the
conus medullaris, which is the lower end of the spinal cord,
ascends. A significant ascent of the conus medullaris is
detected between 13 and 40 postmenstrual weeks from the
level of L4 or below (between 13 and 18 weeks) to a level
above L2 at term
9
(see Figure 17–1 ). The visualization of a
low-reaching conus medullaris during pregnancy should
raise the suspicion of tethering.
AB
The filum terminale, a delicate strand of fibrous tissue,
appears as an echogenic midline string extending caudally
from the conus medullaris through the coccyx.
thickening of the filum terminale has been reported in
postnatal cases of tethered cord.
13
12
Abnormal
The coronal planes display paired parallel ossification centers of the spine and help in the evaluation of the
degree of scoliosis.
1
Visualization of vertebral asymmetry
raises the suspicion of hemivertebra ( Figure 17–3 ).
CD
Figure 17–2.
shows the sagittal ( A ), axial ( B ), and coronal ( C ) planes. 3D reconstruction ( D ) enables evaluation mot only of individual vertebrae but also of
ribs and iliac crests.
Three-dimensional (3D) multiplanar imaging of the spine
The axial planes are produced by a dynamic shift
starting either at the level of the head or from the sacrum
cephalad and on the way demonstrate three ossification
centers for each vertebra (see Figure 17–3 ). This plane
is commonly used to exclude spinal defects and evaluate
AB
Figure 17–3. Hemivertebra with scoliosis. (A) At 14 postmenstrual
weeks, the hemivertebra ( black arrow ) is clearly demonstrated in the
coronal plane. (B) At 23 postmenstrual weeks, fusion of a normal vertebra
and a hemivertebra is depicted as a large ossification center ( white arrow )
causing compression of the anterior and posterior borders of the cord
( arrowhead ).
Chapter 17 Vertebral Anomalies
469
the overlying soft tissues.
14
Chapter 5 contains additional,
mostly 3D volume scans, with orthogonal displays and 3D
renderings of the vertebral column.
HEMIVERTEBRA
Hemivertebra is a relatively common congenital anomaly
of the spine in which only one-half of the vertebral body
develops. The reported incidence of hemivertebra is
0.5 to 1.0 per 1000 births,
0.31 for multiple vertebral anomalies and 0.68 for solitary
vertebral anomalies. 16 In this malformation, a portion of
the vertebra does not develop, producing a wedge-shaped
vertebra. Depending on which ossification center fails
to develop, the hemivertebra may be lateral or dorsal.
The main prenatal sonographic feature of hemivertebra
is disruption of the normal spine alignment that leads to
congenital scoliosis. When the suspicion of hemivertebra
is raised, US is usually accurate in predicting the level and
type of it. Usually the coronal plane allows the diagnosis
by the display of the wedge-shaped hemivertebra and
scoliosis (see Figure 17–3 ). By using the 3D multiplanar
display with the volume acquisition in the midsagittal plane, the malformation may be projected forward,
allowing observation of the exact level of the hemivertebra ( Figure 17–4 ).
The diagnosis of isolated hemivertebra usually has
a favorable outcome,
associated with other congenital anomalies, and a meticulous anatomical scan should follow its diagnosis. The
whole spine, ribs, pelvis, and limbs should be scanned, as
hemivertebra may be part of syndromes involving other
skeletal anomalies.
21
cardiac and genitourinary tract anomalies, have been
reported. They may be part of genetic syndromes, including Jarcho-Levin, Klippel-Feil, and VATER association
(vertebral defects, imperforate anus, tracheoesophageal
fistula, and radial and renal dysplasia).
Wax et al
23
described a series of 19 fetuses with
hemivertebra diagnosed during a period of 10 years.
The diagnosis was made at a mean gestational age of
20.5 weeks; 14 (73.7%) fetuses had additional anomalies, of
which 5 (35.7%) were syndromic (4 with cloacal exstrophy
15
with a male/female ratio of
17
18 – 20
but hemivertebra is frequently
Extraskeletal anomalies, particularly
22
Figure 17–4. Multiplanar 3D ultrasound (US) helps to detect the level
of the hemivertebra and demonstrates the severity of kyphoscoliosis.
and omphaloceles and 1 with Jarcho-Levin syndrome).
Fourteen (73.7%) neonates were live born, 2 (14.3%) of
these neonates died; both had cloacal exstrophy and large
omphaloceles. The remaining pregnancies were terminated or had a fetal death.
23
From our experience, the progression of isolated
cases cannot be predicted accurately, as demonstrated in
Figure 17–5; in this case, the angle of scoliosis improved
throughout pregnancy.
DIASTEMATOMYELIA
Diastematomyelia, or split cord malformation (SCM), is a
rare form of spinal dysraphism characterized by the presence of a sagittal cleft in the spinal cord. This condition is
the result of the presence of an osseous or fibrocartilaginous septum producing a complete or incomplete sagittal
division of the spinal cord into two hemicords. It may be
isolated or associated with other segmental anomalies of
the vertebral bodies.
Splitting of the spinal cord may be partial or complete
and can result in symmetrical or asymmetrical hemicords,
which usually reunite caudally. Each segment has a central
canal and dorsal as well as ventral nerve roots. Pang et al 24
proposed a classification for diastematomyelia. Type I
SCM consists of two hemicords, each contained in a separate dural tube and separated by an osseocartilaginous septum. Type II SCM consists of a single dural sac containing
both hemicords, the two hemicords being separated by a
nonrigid fibrous septum. Type I split cords are technically
more difficult to correct and are associated with more surgical morbidity than type II, especially if there is an oblique
septum dividing the cords asymmetrically.
Ultrasound in the axial plane may identify the hemicords and also the spur, which is usually echogenic
( Figure 17–6 ). Diastematomyelia occurs most commonly
24 , 25
25