Pediatr Radiol (2001) 31: 27±30

Ó Springer-Verlag 2001

Peter G. Nikkels Schneckenbecken dysplasia, radiology,

Rob H. Stigter
Irma E. Knol and histology
Hans J. van der Harten

Received: 7 June 2000

Accepted: 3 August 2000
)
P. G. Nikkels ( )
Department of Pathology,
University Medical Centre Utrecht,
P. O. Box 85500, 3508 GA Utrecht,
The Netherlands
e-mail: p. g. j.nikkels@azu.nl
Tel.: + 31-30-2 50 65 67/2 50 65 65
Fax: + 31-30-2 54 49 90
R. H. Stigter
Division of Neonatology and Obstetrics,
University Medical Centre Utrecht,
Utrecht, The Netherlands
I. E. Knol
Division of Medical Genetics,
University Medical Centre Utrecht,
Utrecht, The Netherlands
H. J. van der Harten
Department of Pathology,
Free University Amsterdam, Amsterdam,
The Netherlands
Abstract To our knowledge this is
the first report of Schneckenbecken
dysplasia with the development of
hydrops early in the second trimes-
ter. The radiological findings
showed the typical hypoplastic iliac
bones with medial extension and
very flattened, on lateral view, oval-
shaped vertebral bodies and short
long bones. The histology showed
hypercellular and hypervascular
cartilage with chondrocytes with
centrally located nucleus. The ab-
sence of the lacunar space as de-
scribed before was also observed in
some chondrocytes in our case. This
male fetus was the product of con-
sanguineous parents of Mediterra-
nean origin compatible with
autosomal recessive inheritance.

kenbecken dysplasia that presented with hydrops and

Introduction
Several different types of lethal short-limbed skeletal
dysplasia with platyspondylia have been recognized
with a different mode of inheritance. Schneckenbecken
dysplasia, a rare skeletal dysplasia, is one of them, with
an autosomal recessive mode of inheritance [1]. Some
of the lethal skeletal dysplasias have been reported to
present with hydrops, e. g. achondrogenesis I-A, the
Langer-Saldino dysplasia (achondrogenesis type II, the
platyspondylic lethal chondrodysplasia Torrance and
San Diego type, and some types of the short-rib (poly-
dactyly) syndromes [2]. We describe a case of Schnec-
short-limbed skeletal dysplasia early in the second tri-
mester.
Case report
We describe the clinical, radiographic, and histological features of
a case of Schneckenbecken dysplasia. This was the second child of
consanguineous parents of Mediterranean origin. On ultrasound
at 20 weeks of gestation, a fetus was seen with severe hydrops, ex-
tremely short extremities, and a small thorax. Termination of preg-
nancy was performed at 22 2/7 weeks. The first child had a
congenital fiber-type disproportion, an autosomal recessive disor-
28

Fig. 1 Frontal and lateral view

of the fetus. The severe hydrops
and extreme shortness of the
extremities are obvious

Fig. 2 Anteroposterior (A) and

lateral radiograph (B). Note
the medial extension on the
right side of the ileum (C)
(snail-like pelvis, Schnecken-
becken), oval shape of the ver-
tebral bodies on lateral X-ray
and the dumbbell-like appear-
ance of the short long bones

der of skeletal muscle. At autopsy, a male fetus was seen with hy-
drops (Fig. 1), general shortness of the extremities, a central medial
palatoschisis of the hard and soft palate and lung hypoplasia. The
abdomen was very prominent. Body weight was 360 g, crown-
rump length was 16 cm, and the crown-heel length was 18 cm. The
post-mortem radiographs (Fig. 2) showed some enlargement of
the biparietal diameter. The long bones were extremely shortened
with a dumbbell-like appearance without apparent metaphyseal
abnormalities and a short diaphysis. The vertebral bodies were
flattened, hypoplastic, and on the lateral projection somewhat
oval. There was marked lordosis in the lumbosacral region. The
ribs were short. The scapulae were not abnormal. The medial part
of the iliac wing on the left side showed a peculiar projection
(snail-like pelvis/Schneckenbecken dysplasia; Fig. 2C). There was

Fig. 3 Histology of the epiphy-
sis (A) and resting cartilage of
the femur (B). Trichrome
stain, ” 30 (A) and ” 420 (B).
The cartilage shows an in-
creased amount of vessels and
is hypercellular. The growth
plate is regular. The chondro-
cytes were large with a centrally
located nucleus
no precocious ossification. Histology of the growth plate of femur
and humerus, spine, and trachea examined following routine paraf-
fin embedding showed striking hypercellular cartilage with an ex-
cess of vascular channels with fibrosis in the cartilage of the long
bones and spine, but not in the cartilage from the trachea (Fig. 3).
The chondro±osseous transformation zone in long bones appeared
regular. The chondrocytes were large with centrally located nucle-
us and with electron microscopy some chondrocytes had a normal
lacunar space; in some, this lacunar space was absent.
Discussion
Schneckenbecken dysplasia is a very rare, lethal osteo-
chondrodysplasia. The case presented in this report
showed severe hydrops and short-limbed skeletal dys-
plasia on ultrasound at 20 weeks of gestation. Develop-
ment of hydrops early in the second trimester has not
been reported in these patients before, although third
trimester polyhydramnios is seen [3, 4]. Some soft tissue
edema without mention of hydrops has been observed
[3, 4]. Other more frequent lethal osteochondrodyspla-
sias are well known to present with hydrops, e. g. achon-
drogenesis I-A, the Langer-Saldino dysplasia
(achondrogenesis type II), the platyspondylic lethal
chondrodysplasia Torrance and San Diego type and
some types of the short-rib (polydactyly) syndromes [2,
5]. Schneckenbecken dysplasia should be mentioned in
the differential diagnosis for severe short-limbed skele-
tal dysplasia and hydrops when detected early in preg-
nancy.
29
The radiographic findings are typical for the Schnec-
kenbecken dysplasia, especially the small ilia with medi-
al snail-like projection. In our case it could only be seen
on the right side of the fetus. This could be due to the
way the radiograph was made, not exactly anteroposte-
rior. However, in other reports a similar observation
was made, and it could be a feature of this skeletal dys-
plasia [4]. The other radiographic findings, e. g., platy-
spondylia with oval vertebral bodies on lateral view,
severe lordosis in the lumbosacral region, general short-
ness of long bones with dumbbell-like appearance are
typical for Schneckenbecken dysplasia. The chondro-
osseous morphology in this case is compatible with this
diagnosis. The chondrocytes were large with a round
central nucleus. Hypercellularity and hypervascularity
of the resting cartilage are known as well [3, 4]. Absence
of the lacunar space, as mentioned by Borochowitz et al.
[4], was also observed in some of the cells in our case. It
was not observed in all cells, and could be due to subop-
timal fixation of the post mortem material. It is unlikely
that it is an age-related feature since it was observed in
an 18-week-old fetus as well [4]. It could be speculated
that this histological feature is caused by an abnormal
formation of the chondroid matrix, as was observed in
another group of skeletal dysplasias with a mutation in
a sulphate transporter protein, the diastrophic dysplasia
group of skeletal dysplasias [1].
30
References
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