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Case Report
Recurrent Short Rib–Polydactyly Syndrome
with Unusual Associations
Betty Shindel, MD, Scott Wise, MD
Department of Radiology, H066, Milton S. Hershey Medical Center, Penn State University College of Medicine,
P.O. Box 850, Hershey, Pennsylvania 17033
Received 1 July 1998; accepted 2 September 1998
ABSTRACT: Short rib–polydactyly syndrome (SRPS)
is manifested by short-limb dwarfism, short ribs with
thoracic hypoplasia, and polydactyly. This inheritable
syndrome has distinct imaging findings on prenatal
sonography, and ancillary findings on both pre- and
postnatal assessments may enable individual cases to
be classified into 1 of 4 subtypes. In this report, we
present a recurrent case of SRPS that was associated
with a cystic hygroma and choroid plexus cysts. Although cystic hygromas are not uncommonly seen in
skeletal dysplasias, the presence of concomitant cystic hygroma and choroid plexus cysts suggests a chromosomal abnormality such as trisomy 18. © 1999
John Wiley & Sons, Inc. J Clin Ultrasound 27:143–146,
Keywords: fetus, ultrasonography; fetus, skeletal system; fetus, abnormalities
hort rib–polydactyly syndrome (SRPS) is a
relatively rare, fatal skeletal dysplasia that
has an autosomal recessive mode of inheritance.
Although at least 4 types of SRPS have been described, cases generally share the features of
short-limb dwarfism, short ribs with thoracic hypoplasia, and polydactyly. We present a case of
SRPS that was associated with a cystic hygroma
and choroid plexus cysts. A previous pregnancy
had also resulted in a fetus with SRPS and cystic
hygroma. To our knowledge, these findings have
not been previously described with SRPS.
Correspondence to: S. Wise
© 1999 John Wiley & Sons, Inc.
VOL. 27, NO. 3, MARCH/APRIL 1999
CCC 0091-2751/99/030143-04
A 30-year-old woman, gravida 3 para 1, was referred to our institution with a prenatal sonographic suspicion of SRPS. The menstrual age
was 18 weeks. Three years previously, a prenatal
sonographic evaluation at 18 weeks’ menstrual
age revealed fetal anomalies suggestive of SRPS,
including polydactyly, clubbed feet, marked
shortening of the extremities, and short ribs. An
additional sonographic feature of this prior pregnancy was the presence of a cystic hygroma. Elective termination of the pregnancy was performed,
and pathologic analysis of the fetus confirmed the
sonographic findings and the SRPS diagnosis.
The fetus had features of all 4 subtypes of SRPS.1
The long bones were curved and had smooth metaphyseal ends, as seen in type II SRPS. Dysmorphic facial features, such as a high arched but
intact palate and hypertelorism, were present as
seen in type II or III SRPS. Renal and pancreatic
cystic dysplasias, features most commonly associated with type I SRPS but which may be seen in
types II or III, were also present. Type IV SRPS
could not be excluded as a possibility, although
polydactyly is not common in type IV SRPS. Chromosomal analysis of the fetus revealed a normal
A subsequent pregnancy led to an uncomplicated term delivery of a normal infant, but the
third pregnancy was complicated by mild vaginal
bleeding that prompted sonographic evaluation at
an outside institution. The cystic hygroma and
short limbs found during the outside study led to
a reevaluation at our institution. Multiple fetal
anomalies of SRPS were identified, including
postaxial polydactyly of the hands and feet,
marked shortening of the humeri and femora, and
thoracic hypoplasia with the ribs mineralized
only to the mid-lateral aspects of the thorax (Figure 1). Additional findings included a cystic hygroma extending down the posterior aspect of the
neck and bilateral choroid plexus cysts measuring
3–4 mm (Figure 2). Elective termination of the
pregnancy was performed with dilatation and curettage. Pathologic analysis of the fetus confirmed
the presence of 6 digits on 1 hand; 7 digits, of
which 2 digits were fused, on the other hand; and
6 digits on each foot with partial syndactyly. The
remaining fetal structures were not intact and
FIGURE 1. Fetal sonograms reveal features of short rib–polydactyly syndrome. (A) Sonogram shows postaxial
polydactyly in the hand (arrow). (B) Oblique axial sonogram shows short ribs (open arrows).
FIGURE 2. Unusual features of short rib–polydactyly syndrome are apparent on the cranial sonograms. (A)
Axial sonogram of the cranium demonstrates a cystic hygroma (arrow). (B) Axial sonogram shows a choroid
plexus cyst (curved arrow).
could not be examined. Chromosomal analysis revealed a normal (46,XX) female karyotype.
SRPS has an autosomal recessive mode of inheritance and a 25% chance of recurrence in subsequent pregnancies.2–4 In addition to the dominant
features of short-rib thoracic hypoplasia and polydactyly, fetuses with SRPS may have variable
syndactyly, genital abnormalities, median cleft
VOL. 27, NO. 3, MARCH/APRIL 1999
lip, and visceral anomalies. The constellation of
abnormalities can be detected by transvaginal sonography, beginning in the early second trimester.
Four types of SRPS have been described:
Saldino-Noonan, type I; Majewski, type II;
Verma-Naumoff, type III; and Beemer-Langer,
type IV. The overlap of anomalies among the different SRPS types has led investigators to theorize that SRPS results from mutant alleles on a
single locus with variable expressivity and possi145
bly from intrauterine modification of the phenotype.3,6,7 In our case, the features of the first fetus
could not be classified as a specific subtype of
SRPS by either pathologic or radiographic postmortem assessment, further emphasizing the
variable expressivity seen in this syndrome. The
third fetus could not be assessed for SRPS subtype.
To our knowledge, we report the first association of cystic hygroma and choroid plexus cysts
with SRPS. Although the sonographic features of
a skeletal dysplasia such as SRPS do not usually
pose a diagnostic dilemma, unusual coexistent
findings such as cystic hygroma and choroid
plexus cysts could suggest the possibility of a
chromosomal abnormality. Choroid plexus cysts
are common and are usually identified in fetuses
with a normal outcome. However, such cysts have
been associated with trisomy 18 and, to a lesser
extent, trisomy 21.8,9 The presence of choroid
plexus cysts in our case could have been coincidental and therefore unrelated to the SRPS. Cystic hygromas have been associated with other
skeletal dysplasias but, to our knowledge, have
not been previously described with SRPS. The
presence of cystic hygromas in the first and third
fetuses is presumably uniquely inherent to the
SRPS expressed in these fetuses and may be representative of an additional type of SRPS or a
variation in genetic expression of a previously described type. Cystic hygromas are due to obstruction of jugular lymphatics and are associated with
aneuploidy in 47–73% of cases, classically in
Turner’s syndrome but also in cases of trisomies
13, 18, and 21.10 Hence, the presence of both cystic hygroma and choroid plexus cysts could lead to
the consideration of aneuploidy, particularly trisomy 18 or 21, if the dominant findings of SRPS
are not recognized as the primary anomalous condition.
Our case emphasizes the importance of identifying the underlying skeletal dysplasia and any
ancillary findings, such as choroid plexus cysts
and cystic hygroma, that may suggest a chromosomal abnormality such as trisomy 18. The
uniqueness of this case of recurrent SRPS with its
associated features of cystic hygroma and choroid
plexus cysts further emphasizes the variable expressivity in this genetic disorder.
1. Buyse ML, editor. Birth defects encyclopedia. Dover: Blackwell Scientific Publications; 1990.
2. Thomson GSM, Reynolds CP, Cruickshank J. Antenatal detection of recurrence of Majewski dwarf
(short-rib polydactyly syndrome type II Majewski).
Clin Radiol 1982;33:509.
3. Gembruch U, Hansmann M, Fodisch HJ. Early
prenatal diagnosis of short rib–polydactyly (SRP)
syndrome type I (Majewski) by ultrasound in a
case at risk. Prenat Diagn 1985;5:357.
4. Wladimiroff JW, Neirmeijer MF, Laar J, et al. Prenatal diagnosis of skeletal dysplasia by real-time
ultrasound. Obstet Gynecol 1984;63:360.
5. den Hollander NS, van der Harten HJ, Laudy
JAM, et al. Early transvaginal ultrasonographic
diagnosis of Beemer-Langer dysplasia: a report of
two cases. Ultrasound Obstet Gynecol 1998;11:298.
6. Meizner I, Bar-Ziv J. Prenatal ultrasonic diagnosis
of short-rib polydactyly syndrome (SRPS) type III:
a case report and a proposed approach to the diagnosis of SRPS and related conditions. J Clin Ultrasound 1985;13:284.
7. Benacerraf BR. Prenatal sonographic diagnosis of
short rib–polydactyly syndrome type II, Majewski
type. J Ultrasound Med 1993;12:552.
8. Chinn D, Miller E, Worthy L, et al. Sonographically detected fetal choroid plexus cysts: frequency
and association with aneuploidy. J Ultrasound
Med 1991;10:255.
9. Shields L, Uhrich S, Easterling T, et al. Isolated
fetal choroid plexus cysts and karyotype analysis:
is it necessary? J Ultrasound Med 1996;15:389.
10. Mahoney BS. Ultrasound evaluation of the fetal
musculoskeletal system. In: Callen PW, editor. Ultrasonography in obstetrics and gynecology. Philadelphia: WB Saunders; 1994. p 270.
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