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Clin Genet 1999: 56: 462–463Printed in Ireland. All rights reser6ed
Letter to the Editor
Postaxial polydactyly and Dandy–Walkermalformation. Further nosological comments
To the Editor:The association of postaxial polydactyly andDandy–Walker malformation or related brainanomalies can be seen in chromosomal (trisomy 13,trisomy 8), autosomal recessive (hydrolethalus,Meckel, pseudotrisomy 13), and autosomal domi-nant (Pallister Hall, Greig) syndromes. In 1996,Morava et al. (1) reported on a patient withDandy–Walker anomaly and postaxial poly-dactyly, suggesting that this combination of defectscould represent an oligosymptomatic case of hy-drolethalus syndrome. Buttiens et al. (2) and Frynsand Van den Berghe (3) described two unrelatedfamilies whose members presented with an occipitalbone defect and postaxial polydactyly as the mainfeatures, but with a wide variability of expression.With regard to these cases, and commenting on thereport of Morava et al. (1), Fryns (4) suggested thatnot only autosomal recessive, but also the men-tioned autosomal dominant syndrome should beconsidered among the differential diagnoses incases with Dandy–Walker malformation andpostaxial polydactyly.
The presence of only two malformations in aninfant, without other, perhaps minor, anomalies,which could favor the diagnosis of a specific syn-drome, frequently raises doubts as to whether weare dealing with a syndrome or an unspecific asso-ciation.
In order to evaluate the diagnostic value of theassociation postaxial polydactyly – Dandy–Walker malformation or related brain anomalies,we determined in 16 201 multiply malformed in-fants ascertained by the ECLAMC (5): 1) the fre-quency of the association between postaxialpolydactyly and unspecific hydrocephalus; and 2)the frequency of the association between postaxialpolydactyly and Dandy–Walker malformation orrelated anomalies. Finally we analyzed each of theobserved cases individually. These data partiallyoverlap with those reported by Castilla et al. (6).
As the expression of Dandy–Walker malforma-tion is variable, including hydrocephalus, anoma-lies of the posterior fossa, cerebellum, and corpus
callosum, we established the frequency of associa-tion between postaxial polydactyly and any of thefollowing anomalies: Dandy–Walker malforma-tion, anomalies of the cerebellum, corpus callosumor septum pellucidum, with or without hydro-cephalus.
Postaxial polydactyly and unspecific hydro-cephalus are frequent among multiply malformedinfants (52/1000 and 62/1000, respectively;ECLAMC data). However, they do not seem toassociate preferentially with each other. Althoughwithout statistical significance, postaxial poly-dactyly and unspecific hydrocephalus were nega-tively associated (39 observed cases, expected 52;exact probability by Poisson p=0.067).
Conversely, there was a positive association be-tween postaxial polydactyly and specific brainanomalies (Dandy–Walker and related malforma-tions) (ten observed cases, five expected; exactprobability by Poisson p=0.032).
When analyzing the records of the ten observedcases, in nine of them the pediatrician in charge ofthe malformed child had defined or suspected asyndrome, by clinical features, positive family his-tory, or parental consanguinity (trisomy 13 syn-drome 3, hydrolethalus syndrome 2, acrocallosalsyndrome 1, pseudotrisomy 13 syndrome 1, Meckelsyndrome 1, and acromelic frontonasal ‘dysplasia’1). One case with postaxial polydactyly and dysge-nesis of the corpus callosum had a positive familyhistory for polydactyly, so a random co-existenceof two independent traits seemed likely (Table 1).
In conclusion, postaxial polydactyly does associ-ate preferentially with certain specific brain anoma-lies. This fact, plus the analysis of the individualcases and the negative association with unspecifichydrocephalus, suggests that in the presence of anyassociation between postaxial polydactyly andDandy–Walker malformation or related brainanomalies, a syndrome should be suspected.
M RittlerEE Castilla
462
Letter to the Editor
References
1. Morava E, Adamovich D, Czeizel AE. Dandy-Walker mal-formation and polydactyly: a possible expression of hydro-lethalus syndrome. Clin Genet 1996: 49: 211–215.
2. Buttiens M, Fryns JP, Jonckheere P, Brouckmans-ButtiensK, Van den Berghe H. Scalp defect associated with postax-ial polydactyly: confirmation of a distinct entity with auto-somal dominant inheritance. Hum Genet 1985: 71: 86–88.
3. Fryns JP, Van den Berghe H. Congenital scalp defectsassociated with postaxial polydactyly. Hum Genet 1979: 49:217–219.
4. Fryns JP. Dandy-Walker malformation and postaxial poly-dactyly: nosological comments. Clin Genet 1997: 51: 139.
5. Castilla EE, Lopez-Camelo JS. The surveillance of birthdefects in South-America: I. The search for time clusters:epidemics. Adv Mutagen Res 1990: 2: 191–210.
6. Castilla EE, Lugarinho R, Dutra MG, Salgado LJ. Congen-ital anomalies associated to polydactyly. Am J Med Genet1998: 80: 459–465.
Correspondence:Monica Rittler, MD, PhDTucuman 3130, Olivos(1636) Buenos AiresArgentinaTel.: +54-114-799-7570Fax: +54-114-794-1630E-mail: [email protected]
463
Tabl
e1.
Des
crip
tion
ofth
ete
nca
ses
with
post
axia
lpol
ydac
tyly
and
brai
nan
omal
ies
CAS
ES
12
34
56
78
910
Polyd
acty
lyC
ross
ed*
Han
dsbi
late
ral
Cro
ssed
Feet
bila
tera
lH
ands
bila
tera
lH
ands
and
feet
Cro
ssed
Han
dsan
dfe
etPo
lydac
tyly
NFS
Han
dsan
dfe
etbi
late
ral
bila
tera
lbi
late
ral
CN
SAg
enes
isco
rpus
Dys
gene
sisD
andy
–Wal
ker
Dan
dy–W
alke
rM
icro
ceph
aly
Hyd
roce
phal
usH
ydro
ceph
alus
.D
andy
–Wal
ker
Agen
esis
Agen
esis
corp
usAg
enes
isse
ptum
mal
form
atio
nca
llosu
mm
alfo
rmat
ion
Dan
dy–W
alke
rco
rpus
callo
sum
.ca
llosu
mC
ereb
ellu
mco
rpus
callo
sum
mal
form
atio
nO
ccip
ital
anom
aly
pellu
cidu
mm
alfo
rmat
ion
ence
phal
ocel
eEy
esC
olob
oma
Anop
htha
lmia
Mic
roph
thal
mia
Mic
roph
thal
mia
CL/
CP
++
++
+M
icro
gnat
hia
++
+Ki
dney
sH
ydro
neph
rosis
Enla
rged
Hyd
rone
phro
sisG
enita
liaH
ypos
padi
asSm
allp
hallu
sH
ypos
padi
asC
rypt
orch
idism
Cry
ptor
chid
ismO
ther
Hyp
oden
seoc
-Fr
onto
nasa
lH
eart
defe
ctAp
lasia
cutis
cipi
talb
one
dyso
stos
isTi
bial
agen
esis
Mic
rotia
Fam
ilyda
taFa
milia
lpol
y-Br
othe
ral
soaf
-Pa
rent
alco
nsan
-da
ctyly
guin
ityfe
cted
Dia
gnos
isAc
roca
llosa
lsyn
-Tr
isom
y13
syn-
Hyd
role
thal
usTr
isom
y13
syn-
Pseu
dotri
som
yTr
isom
y13
syn-
Hyd
role
thal
usAc
rom
elic
fron-
Mec
kels
yndr
ome
drom
esy
ndro
me
drom
e13
synd
rom
edr
ome
tona
sal‘
dys-
synd
rom
edr
ome
plas
ia’
*Han
ds:p
osta
xialh
exad
acty
ly;fe
et:h
allu
xdu
plic
atio
n.N
FS=
not
furth
ersp
ecifie
d;C
NS
=ce
ntra
lner
vous
syst
em;C
L/C
P=
clef
tlip
/cle
ftpa
late
.