doi:10.1111/j.1741-4520.2007.00158.x

Congenital Anomalies 2007; 47, 113–118

113

REVIEW ARTICLE

Dandy–Walker syndrome and chromosomal abnormalities
George Imataka, Hideo Yamanouchi, and Osamu Arisaka
Department of Pediatrics, Dokkyo University School of Medicine, Tochigi, Japan

ABSTRACT Dandy–Walker syndrome (DWS) is a brain
malformation of unknown etiology, but several reports havebeen published indicating that there is a causal relationship tovarious types of chromosomal abnormalities and malformation
syndromes. In the present article, we present a bibliographicalsurvey of several previously issued reports on chromosomal
abnormalities associated with DWS, including our case of DWS
found in trisomy 18. There are various types of chromosomal
abnormalities associated with DWS; most of them are reported
in chromosome 3, 9, 13 and 18. We also summarize some otherchromosomal abnormalities and various congenital malformation syndromes.
Key Words: chromosomal abnormality, chromosome, Dandy–
Walker syndrome, trisomy 13, trisomy 18, trisomy 3, trisomy 9,
ZIC1, ZIC4INTRODUCTION
Dandy–Walker syndrome (DWS) is designated by Benda (1954),
following reports on hydrocephalus associated with cysts of theposterior cranial fossa (Dandy et al. 1914; Taggart & Walker 1942).
Absence or hypoplasia of the vermis (Altmen et al. 1992) and theformation of cysts (Murray et al. 1985; de Souza et al. 1994;
Teksam et al. 2005) that communicate with the fourth ventricle ofthe posterior cranial fossa are essential to the definition of thissyndrome. The syndrome occurs in one of 30 000 infants (Ashwal
1999). Reports have been published on various other disorders andcomplications that are similar from a clinical perspective. The complications include deformation of the central nervous system,
hyperdactylia, syndactyly, cleft palate, alloplasia of kidneys, liverand pancreas, and abnormal retina (Hunter et al. 1991). There aremany reports on the complications of chromosomal abnormalities
with DWS (Nyberg et al. 1991; Lee et al. 2005). We report here ourcase of DWS associated with trisomy 18. In addition, we present
a bibliographical survey of the previous reports of association
between DWS and chromosomal abnormalities with new knowledge, as well as various malformation syndromes.

CASE REPORT: DWS ASSOCIATED WITH
TRISOMY 18
A 25-year-old pregnant female underwent fetal ultrasonography.
She was referred to the department of gynecology and obstetrics of
our hospital due to slow fetal growth and suspected ventricularenlargement at the 32nd week of gestation. She had no history ofdelivery or miscarriage, and no history of infection in the early
Correspondence: George Imataka MD, PhD, Department of Pediatrics,
Dokkyo University School of Medicine, 880 Kitakobayashi, Mibu, Shimotsuga, Tochigi 321-0293, Japan. Email: geo@dokkyomed.ac.jp
Received May 14 2007; revised and accepted July 23 2007.

pregnancy period. Her husband was 30 years old and in good
health. Subsequent observation of the course of fetal growth
showed intrauterine growth retardation and polyhydramnios. The
baby was born by spontaneous delivery at 39 weeks gestation.
Apgar score was 3 at 1 min and 4 at 5 min. Because of respiratory
failure, the baby was ventilated mechanically. He was 42 cm tall(-3.2 SD) and weighed 1988 g (-3.0 SD). His head circumference
was 34.4 cm (+1.1 SD), and chest circumference was 27 cm (-3.0
SD). Cardiac ultrasonography showed ventricular septal defect andpatent ductus arteriosus. There were multiple anomalies including
syndactyly, small auricles, undescended testis, dislocation of the hip
joint, hyperrigidity of the four limbs, and rocker bottom feet.
G-banding analysis revealed that the karyotype was 47, XX, +18(Fig. 1). Fluorescent in situ hybridization method showed complete
trisomy 18. Brain ultrasonography revealed a cyst in the posteriorarea (Fig. 2). Brain CT showed cerebellar cyst communicating withthe fourth ventricle, suggesting DWS (Fig. 3). The baby died ofacute respiratory failure without withdrawal from the respirator at
the age of 414 days. No autopsy was performed.

REVIEW OF PUBLISHED REPORTS
The cause of DWS is unknown, but there have been many reports ofvarious chromosomal abnormalities associated with DWS. Manycases have been reported with complications of trisomy and partial
trisomy, including trisomy 18, as is reported here. Complications ofsex chromosomal abnormalities and multiple malformation syndromes have also been reported. In the present report we first
discuss the frequency of complications of chromosomal abnormalities with DWS. Second, we focus on chromosomes 3, 9, 13 and 18
as the major chromosomal abnormalities reported in many previous
cases, and summarize the association with DWS. Finally, we reportcomplications of other chromosomes and congenital malformation
syndromes with DWS.
General view of DWS associated chromosomal abnormalities
DWS is rare. It has a frequency of occurrence in one in 30 000
infants (Ashwal 1999). Three papers have been published (Nyberg
et al. 1991; Estroff et al. 1992; Ulm et al. 1997) containing
a statistical analysis of chromosomal abnormalities with DWS(Table 1). According to Table 1, 34 cases of chromosomal abnormalities were observed with 78 cases of DWS. The karyotype ofeach chromosomal abnormality is unknown, but it is important to
conduct a chromosomal test of cases diagnosed as DWS by diagnostic imaging, keeping in mind chromosomal abnormalities.
Chromosome 3 and DWS
In 2004 Girnberg et al. conducted a genetic analysis of six cases of
DWS with interstitial deletion observed in 3q, and defined the firstcritical region associated with DWS in 3q24, encompassing two
adjacent zinc fingers in cerebellum genes ZIC1 and ZIC4 (Girnberg
et al. 2004; Grinberg & Millen 2005; Titomanlino et al. 2005).
© 2007 The Authors
Journal compilation © 2007 Japanese Teratology Society

114

G. Imataka et al.

A

P

Karyotype analysis G-banding method. There was an extra chromosome with the 18th pair in Group E, suggesting trisomy 18.

R

L

Furthermore, the authors pathologically proved that mice with heterozygous deletion of these two linked genes had a phenotype thatclosely resembled DWS and provided a mouse model of this malformation. There have also been four case reports of DWS complicated by chromosome 3 abnormalities including: partial trisomy3p
and partial monosomy 11q (Chen et al. 2002b); partial trisomy 3q(de Azevedo et al. 2005); dup(3q) syndrome (Ounap et al. 2005);
and an interstitial deletion of chromosome 3q [3q25.1–3q25.33](Sudha et al. 2001).

Fig. 2

Fig. 1

1

2

3

6

7

8

13

14

15

19

20

9

21

4

5

10

11

12

16

17

18

22

X

Y

Chromosome 9 and DWS
There is a major participation of chromosome 9 in the chromosome
abnormalities where Dandy–Walker syndrome is concerned.
Sepulveda et al. (2003) conducted diagnostic imaging of nine casesof trisomy 9 and reported that four cases were diagnosed as DWS.
There have been at least 20 case reports on DWS cases complicatedby trisomy 9 (Golden & Schoene 1993). These reports include cases
complicated by DWS such as trisomy 9 mosaic syndrome (Bureau
et al. 1993; Tarani et al. 1994; Murru et al. 2002), partial trisomy 9(Zacharias et al. 1983; Hannam et al. 1999; von Kaisenberg et al.
2000; Chen et al. 2002a, 2005; Metzke-Heidemann et al. 2004),
tetrasomy 9p (Melaragno et al. 1992; Cazorla et al. 2003;
Hengstschlager et al. 2004), and complete trisomy 9 (McDuffie
1994). The number of these reports shows that DWS can be commonly encountered in chromosome 9.
Chromosome 13 and DWS
In an analysis of 33 cases of chromosomes of DWS by Nyberg et al.
(1991), three cases were diagnosed as trisomy 13. One case wasdiagnosed as trisomy 13 in a chromosomal analysis of 17 cases of
DWS by Estroff et al. (1992). According to these two articles,
complication of trisomy 13 was observed in four of 50 cases of
DWS. Four case reports of DWS associated with deletion of the 13q
arm have been reported (Patacchiola et al. 1999; Alanay et al. 2005;
Gul et al. 2005; Kolomietz et al. 2005). Holoprosencephaly is amalformation of the brain known to occur in association with chromosome 13. One of the three cases mentioned above was a case© 2007 The Authors
Journal compilation © 2007 Japanese Teratology Society

Brain ultrasonography. Brain ultrasonography (upper; sagittal
image/lower; axial image) showed enlarged lateral ventricles associated with hypoplasia of the cerebellar vermis (*). A, anterior; P,
posterior.

complicated by DWS and holoprosencephaly with deletion of
the 13q arm (McCormack et al. 2003). It is anticipated that theaccumulation of further case reports will result in the prediction of
the gene loci that will identify candidate genes for DWS fromchromosome 13.
Chromosome 18 and DWS
Three summarized reports have been published regarding chromosome 18 and DWS (Table 2). Nyberg et al. (1991) analyzed the
karyotypes of chromosomes in 33 cases of DWS, and reported 15
cases of trisomy 18. Estroff et al. (1992) reported chromosome
analysis in 17 cases of DWS, and trisomy 18 was observed in twocases. Ulm et al. (1997) reported chromosome analysis 28 cases of
DWS, and trisomy 18 was included in three cases. These threereports show that trisomy 18 occurred in 20 of 78 cases of DWS.
Nyberg et al. stated in the discussion of the article that DWS had ahigh frequency of complication by trisomy 18, and thus ultrasoundor imaging tests should be conducted at an early stage, keeping in
mind trisomy 18 complicated by DWS (Nyberg et al. 1991). Moreover, regarding the early diagnosis of DWS, Chen CP et al. reported
that a prenatal diagnosis could be made for DWS complicated bytrisomy 18 in cases with intrauterine growth retardation, hydrops
amnii, and small placenta observed by fetal ultrasound (Reece et al.

DWS and chromosomal abnormalities

aspect (Imataka et al. 2004, 2006). In our case, the hydrocephalus
associated with DWS was not a candidate for surgery and was not
the direct cause of death. The cause of death in this case wascongenital cardiac disorder associated with trisomy 18. It is generally known that because severe congenital cardiac disorders simultaneously occur with trisomy 18 in many cases, the long-term
survival rate is very low (Rasmussen et al. 2003; Kuroki & Kurosawa 2004; Imataka et al. 2007). Since the statistics show that deathwithin 24 h after birth is observed in approximately 9–15% of cases(Imataka et al. 2007), many cases of deaths that may be reported as
being due to congenital cardiac disorder in trisomy 18, with nodiagnosis of DWS. However, there have been many cases oftrisomy 18 with long-term survival in recent years, and it has beenreported that approximately 10% of cases survived for over 1 year,
depending on the medical situation of the country (Rasmussen et al.
2003; Kuroki & Kurosawa 2004; Imataka et al. 2007). The case oftrisomy 18 that we presented here was a case of long-term survivalof 414 days. No reports on complications of DWS in other karyotypic abnormalities of chromosome 18 have been found.

A B
C D

Fig. 3Brain computed tomography showed hypoplasia of the cerebellar
vermis (A,B) and a cyst communicating with the 4th ventricle(B,C,D), suggesting DWS.

Table 1 Chromosomal abnormalities and Dandy–Walker syndrome (DWS)

Nyberg et al. (1991)
Estroff et al. (1992)
Ulm et al. (1997)
Total

No. cases
with DWS

Chromosomal
abnormalities

33
17
28
78

21
5
8
34

Table 2 Trisomy 18 and Dandy–Walker syndrome (DWS)

Nyberg et al. (1991)
Estroff et al. (1992)
Ulm et al. (1997)
Total

115

No. cases with DWS

Trisomy 18

33
17
28
78

15
2
3
20

1987; Thurmond et al. 1989; Chen et al. 1996, 2002). However,
because the timing of operation for congenital hydrocephalus is thebiggest problem in the early diagnosis of DWS (Aletebi & Fung
1999; Zhang et al. 2004), it is necessary to consider the ethical

Other chromosomes and concurrent cases of malformation
syndrome and DWS
Reports have been published on DWS and chromosome 1 (Wells
et al. 1996; Poot et al. 2007), and two cases of chromosome 2q(Davis et al. 1991; Waters et al. 1993). There are cases of DWS
with complications of trisomy 5p (Kleczkowska et al. 1987) and 5p
deletion syndrome (Vialard et al. 2005) in chromosome 5. There
are reports on partial monosomy 6q26 (Weimer et al. 2006) andsubtelomeric deletions of chromosome 6p (Descipio et al. 2005) inchromosome 6, and partial trisomy 7q (Chen et al. 1996, 2006;
Metzke-Heidemann et al. 2004) in chromosome 7. There arereports on DWS and partial trisomy 8q (Fan & Siu 2001), andtrisomy 8 mosaicism (Nakamura et al. 1985) in chromosome 8.
There are reports on partial trisomy 3 and partial monosomy 11q(Chen et al. 2002), and partial trisomy 11/22 (Katafuchi et al. 1990;
Dean et al. 1991; Chen et al. 1996) in chromosome 11. There arecases of DWS with complications of partial monosomy 12q (Chenet al. 2006) in chromosome 12, distal trisomy 15q (Ieshima et al.
1985) in chromosome 15, chromosome 16 (Aviv et al. 2005), chromosome 17 (Kingston et al. 1993), and non-mosaic trisomy 20(Hsieh et al. 1992) in chromosome 20. There are cases of DWS
associated with trisomy 21 (Constantini et al. 1989; Estroff et al.
1992). There are cases of DWS associated with partial trisomy
11/22 (Katafuchi et al. 1990; Chen et al. 1996), and Fryns’ syndrome and partial trisomy 11/22 (Dean et al. 1991) in chromosome
22. Regarding sex chromosome abnormalities, there are reports of
DWS with X monosomy/Turner syndrome (Nyberg et al. 1991), X
pentasomy, or X-linked inheritance (Cowles et al. 1993), autosomal
X-linked recessive (Ulm et al. 1999), and fragile X syndrome(Klein et al. 2003). Regarding chromosome abnormalities with
polyploidy, there are triploids (Ulm et al. 1997; Blaicher et al.
2002) and tetraploids (Nakamura et al. 2003). There are threereports of regarding premature chromatid separation with division
and DWS (Kajii et al. 1998; Kawame et al. 1999; Furukawa et al.
2003). In addition, there are case reports of DWS complicatedby oro–facial–digital syndrome, Ritscher Schinzel (3C: craniocerebello–cardiac) syndrome (Descipio et al. 2005), Rubinstein–
Taybi syndrome (Agarwal et al. 2002), Meckel syndrome(Al-Gazali et al. 1996), Meckel–Gruber syndrome (Balci et al.
2004), Marden–Walker syndrome (Ozkunay et al. 1995), distal
arthrogryposis type 2B (Pallotta et al. 2000), Shah–Waardenberg
syndrome (Yoder & Prayson 2002), Fryns’ syndrome (Dean et al.
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Journal compilation © 2007 Japanese Teratology Society

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G. Imataka et al.

1991), neurocutaneous melanosis (Arai et al. 2004), callosal agenesis (Klein et al. 2003) and neural tube defects (Murray et al. 1985;
Nyberg et al. 1988; Grinberg & Millen 2005).

CONCLUSION
Complications of chromosomal abnormalities in various cases ofbrain malformation have been reported, and new causative genes
have been identified one after another in recent years. As summarized in the present article, many case reports of DWS with complications of chromosomal abnormalities have been published in
the past. However, only ZIC1 and ZIC4 genes of chromosome 3q24
have been identified as candidate genes in recent years. It is important to accumulate cases regarding DWS and chromosomal abnormalities because DWS involves cases with complications of various
chromosomal abnormalities and malformation syndromes and there
is a high possibility that further candidate genes may be identified inother regions in the near future.

ACKNOWLEDGMENTS
This study was supported by Grant-in-Aid for Young Scientists B(KAKENHI: 18790733) from the Ministry of Education, Culture,
Sports, Sciences and Technology Japan.

REFERENCES
Agarwal R, Aggarwal R, Kabra M, Deorari AK (2002) Dandy-Walker
malformation in Rubinstein–Taybi syndrome: A rare association. Clin
Dysmorphol 11: 223–224.
Alanay Y, Aktas D, Utine E et al. (2005) Is Dandy-Walker malformation
associated with ‘distal 13q deletion syndrome’? Findings in a fetus supporting previous observations. Am J Med Genet A 136: 265–268.
Aletebi FA, Fung KF (1999) Neurodevelopmental outcome after antenatal
diagnosis of posterior fossa abnormalities. J Ultrasound Med 18: 683–
689.
Al-Gazali LI, Abdel Raziq A, Al-Shather W, Shahzadi R, Azhar N (1996)
Meckel syndrome and Dandy-Walker malformation. Clin Dysmorphol 5:
73–76.
Altmen NR, Naidichi TP, Braffman BH (1992) Posterior fossa malformations. AJNR 13: 691–724.
Arai M, Nosaka K, Kashihara K, Kaizaki Y (2004) Neurocutaneous melanosis associated with Dandy-Walker malformation and a meningohydroencephalocele. Case report. J Neurosurg 100: 501–505.
Ashwal S (1999) Cerebellar malformations. In: Swaiman KF, Ashwal S(eds). Pediatric Neurology. Principles and Practice. Mosby, St. Louis,
MO, p. 266.
Aviv H, Wolf R, Edward Davis S, Wallerstein R (2005) Fetus with a de novo
supernumerary marker chromosome 16 and Dandy-Walker malformation
detected on ultrasound. Prenat Diagn 25: 616–618.
Balci S, Teksen F, Dokmeci F et al. (2004) Prenatal diagnosis of Meckel–
Gruber syndrome and Dandy-Walker malformation in four consecutive
affected siblings, with the fourth one being diagnosed prenatally at
22 weeks of gestation. Turk J Pediatr 46: 283–288.
Benda CE (1954) The Dandy–Walker syndrome or so-called atresia of theforamen Magendie. J Neuropathol Exp Neurot 13: 14–19.
Blaicher W, Ulm B, Ulm MR, Hengstschlager M, Deutinger J, Bernaschek
G (2002) Dandy-Walker malformation as sonographic marker for fetal
triploidy. Ultraschall Med 23: 129–133.
Bureau YA, Fraser W, Fouquet B (1993) Prenatal diagnosis of trisomy 9mosaic presenting as a case of Dandy-Walker malformation. Prenat
Diagn 13: 79–85.
Cazorla Calleja MR, Verdu A, Felix V (2003) Dandy-Walker malformationin an infant with tetrasomy 9p. Brain Dev 25: 220–223.

© 2007 The Authors
Journal compilation © 2007 Japanese Teratology Society

Chen CP, Chang TY, Shih JC et al. (2002a) Prenatal diagnosis ofDandy-Walker malformation and ventriculomegaly associated withpartial trisomy 9p and distal 12p deletion. Prenat Diagn 22: 1063–
1066.
Chen CP, Chen CP, Shih JC (2005) Association of partial trisomy
9p and Dandy-Walker malformation. Am J Med Genet A 132: 111–
112.
Chen CP, Lin SP, Lin CC et al. (2006) Spectral karyotyping and fluorescence in situ hybridization analysis of de novo partial trisomy 7p(7p21.2→pter) and partial monosomy 12q (12q24.33→qter). GenetCouns 17: 57–63.
Chen CP, Liu FF, Jan SW, Yang YC, Lan CC (1996) Prenatal diagnosis ofsupernumerary der(22)t(11;22) associated with the Dandy-Walker malformation in a fetus. Prenat Diagn 16: 1137–1140.
Chen CP, Tzen CY, Chang TY et al. (2002b) Prenatal diagnosis of partial
trisomy 3P and partial monosomy 11q in a fetus with a Dandy-Walker
variant and trigonocephaly. Prenat Diagn 22: 1112–1113.
Constantini S, Pomeranz S, Hoffman B, Martin O, Rappaport ZH (1989)
Coexistence of Dandy–Walker syndrome and Down’s syndrome. Neurochirugia (Stuttg) 32: 56–57.
Cowles T, Furman P, Wilkins I (1993) Prenatal diagnosis of Dandy-Walker
malformation in a family displaying X-linked inheritance. Prenat Diagn
13: 87–91.
Dandy WE, Blackfan KD (1914) Internal hydrocephalus. An experimental,
clinical and pathological study. Am J Dis Child 8: 406–482.
Davis E, Grafe M, Cunniff C, Jones KL, Bogart M (1991) Interstitialdeletion of chromosome 2q associated with ovarian dysgenesis. Clin
Genet 39: 386–390.
Dean JC, Couzin DA, Gray ES, Lloyd DJ, Stephen GS (1991) Apparent
Fryns’ syndrome and aneuploidy: Evidence for a disturbance of the
midline developmental field. Clin Genet 40: 349–352.
de Azevedo Moreira LM, Neri FB, de Quadrous Uzeda S et al. (2005)
Multiple congenital malformations including severe eye anomalies andabnormal cerebellar development with Dandy-Walker malformation in agirl with partial trisomy 3q. Ophthalmic Genet 26: 37–43.
Descipio C, Schneider L, Youg TL et al. (2005) Subtelomeric deletions ofchromosome 6p: Molecular and cytogenetic characterization of three newcases with phenotypic overlap with Ritscher-Schinzel (3C) syndrome. Am
J Med Genet A 134: 3–11.
de Souza N, Bingham CJ, Cox T (1994) MRI in cerebellar hypoplasia.
Neuroradiology 36: 148–151.
Estroff JA, Scott MR, Benacerraf BR (1992) Dandy-Walker variant:Prenatal sonographic features and clinical outcome. Radiology 185: 755–
758.
Fan YS, Siu VM (2001) Molecular cytogenetic characterization of a derivative chromosome 8 with an inverted duplication of 8p21.3→p23.3 and arearranged duplication of 8q24.13→qter. Am J Med Genet A 102: 266–
271.
Furukawa T, Azakami S, Kurosawa H, Ono Y, Ueda Y, Konno Y (2003)
Cystic partially differentiated nephroblastoma, embryonal rhabdomyosarcoma, and multiple congenital anomalies associated with variegatedmosaic aneuploidy and premature centromere division: A case report.
J Pediatr Hematol Oncol 25: 896–899.
Girnberg I, Northrup H, Ardinger H, Prasad C, Dobyns WB, Millen KJ(2004) Heterozygous deletion of the linked genes ZIC1 and ZIC4 isinvolved in Dandy-Walker malformation. Nat Genet 36: 1053–1055.
Golden JA, Schoene WC (1993) Central nervous system malformation intrisomy 9. J Neuropathol Exp Neurol 52: 71–77.
Grinberg I, Millen KJ (2005) The ZIC gene family in development anddisease. Clin Genet 67: 290–296.
Gul A, Cebeci A, Erol O, Ceylan Y, Basaran S, Yuksel A (2005) Prenatal
diagnosis of 13q syndrome in a fetus with Dandy-Walker malformation.
Obstet Gynecol 105: 1227–1229.
Hannam S, Greenough A, Dawson JM (1999) An unusual presentation oftrisomy 9p syndrome with a partial Dandy-Walker malformation. Eur J
Pediatr 158: 1012.
Hengstschlager M, Bettelheim D, Drahonsky R, Repa C, Deutinger J,
Bernaschek G (2004) Prenatal diagnosis of tetrasomy 9p with DandyWalker malformation. Prenat Diagn 24: 623–626.

DWS and chromosomal abnormalities
Hsieh CC, Hsu JJ, Lo LM, Hsieh TT, Soong YK (1992) Non-mosaic
trisomy 20 in cultures of amniotic fluid from a fetus with serious congenital malformation. J Formos Med Assoc 91: 543–544.
Hunter AGW, Jimenez C, Tawagi FGR (1991) Familial renalhepatic-pancreatic dysplasia and Dandy-Walker cyst: A distinct
syndrome? Am J Med Genet 41: 247–207.
Ieshima A, Takeshita K, Shirasaka Y, Nakao Y, Kisa T (1985) Distal 15q
trisomy with Dandy-Walker malformation in a female infant. Jinrui Idengaku Zasshi 30: 227–232.
Imataka G, Nakagawa E, Kuwashima S, Watanabe H, Yamanouchi H,
Arisaka O (2006) Callosal agenesis followed postnatally after prenatal
diagnosis: A case report. Congenit Anom Kyoto 46: 160–162.
Imataka G, Nitta A, Suzumura H, Watanabe H, Yamanouchi H, Arisaka O(2007) Survival of trisomy 18 cases in Japan. Genet Couns 18: 303–308.
Imataka G, Takaya Y, Hagisawa S, Yamanouchi H, Eguchi M (2004)
Trisomy 11/22 diagnosed by spectral karyotyping. Genet Couns 15: 391–
394.
Kajii T, Kawai T, Takumi T et al. (1998) Mosaic variegated aneuploidy withmultiple congenital abnormalities: Homozygosity for total prematurechromatid separation trait. Am J Med Genet 78: 245–249.
Katafuchi Y, Hashino K, Maeno Y et al. (1990) Partial trisomy 22 with
Dandy-Walker malformation. Acta Paediatr Jpn 32: 566–570.
Kawame H, Sugio Y, Fuyama Y et al. (1999) Syndrome of microcephaly,
Dandy-Walker malformation, and Wilms tumor caused by mosaic variegated aneuploidy with premature centromere division (PCD): report of a
new case and review of the literature. J Hum Genet 44: 219–224.
Kingston HM, Nicolini U, Haslam J, Andrews T (1993) 46,XY/
47,XY,+17p+ mosaicism in amniocytes associated with fetal abnormalities despite normal fetal blood karyotype. Prenat Diagn 13: 637–
642.
Kleczkowska A, Fryns JP, Moerman P, Vandenberghe K, Van den Berghe H(1987) Trisomy of the short arm of chromosome 5: autopsy data in amalformed newborn with inv dup (5) (p13.1–p15.3). Clin Genet 32:
49–56.
Klein O, Pierre-Kahn A, Boddaert N, Parisot D, Brunelle F (2003) DandyWalker malformation: Prenatal diagnosis and prognosis. Childs Nerv Syst
19: 484–489.
Kolomietz E, Godbole K, Winsor EJ, Stockley T, Seaward G, Chitayat D(2005) Functional disomy of Xp: Prenatal findings and postnatal
outcome. Am J Med Genet A 134: 393–398.
Kuroki Y, Kurosawa K (2004) No sex differences in 18 trisomy birth in the
Kanagawa Birth Defects Monitoring Program. Congenit Anom Kyoto 44:
97–98.
Lee W, Vettraino IM, Comstock CH et al. (2005) Prenatal diagnosis ofherniated Dandy-Walker cysts. J Ultresound Med 24: 841–848.
McCormack WM Jr, Shen JJ, Curry SM et al. (2003) Partial deletions of thelong arm of chromosome 13 associated with holoprosencephaly and the
Dandy-Walker malformation. Am J Med Genet 118: 384–389.
McDuffie RS Jr. (1994) Complete trisomy 9: case report with ultrasoundfindings. Am J Perinatol 11: 80–84.
Melaragno MI, Brunoni D, Patricio FR et al. (1992) A patient with tetrasomy 9p, Dandy-Walker cyst and Hirschsprung disease. Ann Genet 35:
79–84.
Metzke-Heidemann S, Kuhling-von Kaisenberg H, Caliebe A et al. (2004)
Phenotypical variation in cousins with the identical partial trisomy 9(pter-q22.2) and 7 (q35-pter) at 16 and 23 weeks gestation. Am J Med
Genet A 126: 197–203.
Murray JC, Johnson JA, Bird TD (1985) Dandy-Walker malformation:
Etiologic heterogeneity and empiric recurrence risks. Clin Genet 28:
272–283.
Murru P, Coscia A, Martano C et al. (2002) Complex cerebral malformation
including Dandy-Walker in a newborn with trisomy 9 mosaicism. Radiol
Med (Torino) 103: 261–263.
Nakamura Y, Nakashima H, Fukuda S, Hashimoto T, Maruyama M (1985)
Bilateral cystic nephroblastoma and multiple malformations with trisomy
8 mosaicism. Hum Pathol 16: 754–756.
Nakamura Y, Takaira M, Sato E, Kawano K, Miyoshi O, Niikawa N (2003)
A tetraploid liveborn neonate: Cytogenic and autopsy findings. Arch
Pathol Lab Med 127: 1612–1614.

117

Nyberg DA, Cyr DR, Mack LA, Fitzsimmons J, Hickok D, Mahony BS(1988) The Dandy-Walker malformation prenatal sonographic diagnosis
and its clinical significance. J Ultrasound Med 7: 65–71.
Nyberg DA, Mahony BS, Hegge FN, Hickok D, Luthy DA, Kapur R (1991)
Enlarged cisterna magna and the Dandy-Walker malformation: Factors
associated with chromosome abnormalities. Obestet Gynecol 77: 436–
442.
Ounap K, Ilus T, Bartsch O (2005) A girl with inverted triplication ofchromosome 3q25.3→q29 and multiple congenital anomalies consistent
with 3q duplication syndrome. Am J Med Genet A 134: 434–438.
Ozkunay F, Ozyurek AR, Bakiler AR et al. (1995) A case of Marden–
Walker syndrome with Dandy-Walker malformation. Clin Genet 47: 221–
223.
Pallotta R, Ehresmann T, Fusilli P (2000) Occurrence of Dandy-Walker
anomaly in a familial case of distal arthogryposis type 2B. Am J Med
Genet 95: 477–481.
Patacchiola F, Carta G, Iovenitti P et al. (1999) Apropos of a case of
Dandy–Walker syndrome associated with chromosome abnormalities.
Minerva Ginecol 51: 95–98.
Poot M, Kroes HYVD, Wijst SE et al. (2007) Dandy-Malker complex in aboy with a 5 Mb deletion of region 1q44 due to paternal t (1; 20) (q44;q13.33). Am J Med Genet A 143: 1038–1044.
Rasmussen SA, Wong LY, Yang Q, May KM, Friedman JM (2003)
Population-based analysis of mortality in trisomy 13 and trisomy 18.
Pediatrics 111: 777–784.
Reece EA, Goldstein I, Pilu G, Hobbins JC (1987) Fetal cerebellar growth
unaffected by intrauterine growth radiation: A new parameter for prenatal
diagnosis. Am J Ovstet Gynecol 157: 632–638.
Sepulveda W, Wimalasundera RC, Taylor MJ, Blunt S, Be C, De La Fuente
S (2003) Prenatal ultrasound findings in complete trisomy 9. UltrasoundObstet Gynecol 22: 479–483.
Sudha T, Dawson AJ, Prasad AN, Konkin D, de Groot GW, Prasad C (2001)
De novo interstitial long arm deletion of chromosome 3 with facial
dysmorphism, Dandy-Walker variant malformation and hydrocephalus.
Clin Dysmorphol 10: 193–196.
Taggart JK Jr, Walker AE (1942) Congenital atresia of the foramens of
Luschka and Magendie. Arch Neurol Psychiatry 48: 583–612.
Tarani L, Colloridi F, Raguso G et al. (1994) Trisomy 9 mosaicism
syndrome. A case report and review of the literature. Ann Genet 37:
14–20.
Teksam M, Ozyer U, McKinney A, Kirbas I, Cakir B (2005) Fetal MRI
of a severe Dandy-Walker malformation with an enlarged posterior
fossa cyst causing severe hydrocephalus. Fetal Diagn Ther 20: 524–
527.
Thurmond AS, Nelson DW, Lowsensohn RI, Young WP, Davis L (1989)
Enlarged cisterna magna in trisomy 18: Prenatal ultrasonography. Am J
Obstet Gynecol 161: 83–85.
Titomanlino L, Pierri NB, Romano A et al. (2005) Cerebeller vermis
aplasia: Patient report and exclusion of the candidate genges EN2 andZIC1. Am J Med Genet A 136: 198–200.
Ulm B, Ulm MR, Deutinger J, Bernaschek G (1997) Dandy-Walker malformation diagnosed before 21 weeks of gestation: Associated malformations and chromosomal abnormalities. Ultrasound Obstet Gynecol 10:
167–170.
Ulm B, Ulm MR, Deutinger J, Bernaschek G (1999) Isolated Dandy-Walker
malformation: Prenatal diagnosis in two consecutive pregnancies. Am J
Perinatol 16: 61–63.
Vialard F, Robyr R, Hillion Y, Molina Gomes D, Selva J, Ville Y (2005)
Dandy–Walker syndrome and corpus callosum agenesis in 5p deletion.
Prenat Diagn 25: 311–313.
von Kaisenberg CS, Caliebe A, Krams M, Hackloer BJ, Jonat W (2000)
Absence of 9q22–9qter in trisomy 9 does not prevent a Dandy-Walker
phenotype. Am J Med Genet 95: 425–428.
Waters BL, Allen EF, Gibson PC, Johnston T (1993) Autopsy findings in aseverely affected infant with a 2q terminal deletion. Am J Med Genet 47:
1099–1103.
Weimer J, Cohen M, Wiedemann U, Heinrich U, Jonat W, Arnold N (2006)
Proof of partial imbalances 6q and 11q due to maternal complex balanced
translocation analyzed by microdissection of multicolor labeled chromo-© 2007 The Authors
Journal compilation © 2007 Japanese Teratology Society

118
somes (FISH-MD) in a patient with Dandy-Walker variant. Cytogenet
Genome Res 114: 235–239.
Wells SR, Kuller JA, Rao KW, Aylsworth AS (1996) Multiple congenital
malformations in an infant prenatally diagnosed with mosaicism for dup(1q) and del (Xq). Clin Genet 49: 216–219.
Yoder BJ, Prayson RA (2002) Shah–Waardenburg syndrome and DandyWalker malformation: An autopsy report. Clin Neuropathol 21: 236–240.

© 2007 The Authors
Journal compilation © 2007 Japanese Teratology Society

G. Imataka et al.
Zacharias S, Nazer J, Lacassie I, Ibarra A, Valencia JM (1983) Prenatal
diagnosis of the Dandy–Walker syndrome associated with partial trisomyof chromosome 9. Rev Chil Obstet Ginecol 48: 414–418.
Zhang WS, Tan JX, Yue SJ (2004) A case of Dandy-Walker malformation
futus and 18-trisomy. Zhong Nan Da Xue Xue Bao Yi Xue Ban 29:
10.