Antenatal ultrasound and MRI findings of Pena–Shokeir syndrome

Abstract

Introduction
Pena–Shokeir syndrome is an autosomal recessive disorder characterized by arthrogryposis, facial anomalies (micrognathia), camptodactyly, polyhydramnios and lung hypoplasia.
Case report
We report prenatal ultrasonographic, antenatal MR and postnatal examination findings of a fetus with Pena–Shokeir syndrome.
Conclusion
Pena–Shokeir syndrome is a potentially lethal condition and most cases are diagnosed prenatally by ultrasound. Fetal MR can be performed to look associated neurological malformation.

Full text

SHORT COMMUNICATION
Antenatal ultrasound and MRI findings of Pena–Shokeir
syndrome
Prerna Gupta •J. B. Sharma •Raju Sharma •
Ankur Gadodia •Sunesh Kumar •K. K. Roy
Received: 1 May 2010 / Accepted: 22 September 2010
ÓSpringer-Verlag 2010
Abstract
Introduction Pena–Shokeir syndrome is an autosomal
recessive disorder characterized by arthrogryposis, facial
anomalies (micrognathia), camptodactyly, polyhydramnios
and lung hypoplasia.
Case report We report prenatal ultrasonographic, ante-
natal MR and postnatal examination findings of a fetus
with Pena–Shokeir syndrome.
Conclusion Pena–Shokeir syndrome is a potentially
lethal condition and most cases are diagnosed prenatally by
ultrasound. Fetal MR can be performed to look associated
neurological malformation.
Keywords Fetal MR Pena–Shokeir syndrome 
Ultrasound Fetal akinesia
Introduction
Pena–Shokeir syndrome is an autosomal recessive disorder
characterized by arthrogryposis, facial anomalies (micro-
gnathia), camptodactyly, polyhydramnios and lung hypo-
plasia [1–3]. Sonographic diagnosis is based on absent fetal
movement and abnormal limb position [3–6]. To the best
of our knowledge, there are only two reports of antenatal
MR findings in Pena–Shokeir syndrome [7,8]. We report
the prenatal sonographic, MR findings of Pena–Shokeir
phenotype with pathological correlation.
Case history
A 24-year-old woman, gravida 2 para 1, presented to
another institution at 26 weeks’ gestation for routine
antenatal examination. The parents were unrelated and
there was no significant family history of skeletal, genetic
or congenital anomalies. There was no history of exposure
to alcohol, teratogenic drugs. Antenatal ultrasound (US)
performed at 26 weeks at an outside institution revealed
kyphoscoliosis with reduced fetal movements. Amniocen-
tesis was performed at 27 weeks’ gestation and the
karyotype was normal (46, XY). Following amniocentesis
she presented to our hospital at 28 weeks of gestation with
reduced fetal movements. A repeat US and MRI were
performed at 28 weeks and 28 weeks 4 days, respectively.
On US the biparietal diameter (64 mm) and femur length
(44 mm) were consistent with the gestational date
(28 weeks), while the abdominal circumference (182 mm)
revealed growth restriction (22 weeks). MRI (Avanto,
Siemens; Erlangen, Germany) was performed to further
evaluate the fetus using T1-weighted, T2-weighted (half
Fourier single-shot turbo spin echo, HASTE) and Tru-FISP
sequences. US and fetal MR demonstrated distorted spine
with scoliosis, persistent flexion of the bilateral wrist,
elbow joints and knee joints and bilateral club foot
(Fig. 1a, b). Retromicrognathia and pulmonary hypoplasia
were also present and were better depicted on MR images
(Fig. 2a, b). Fetal posture was fixed and there was no
movement during the ultrasound and MR examination.
Also, stomach did not fill over the prolonged scanning
time. MR images demonstrated skin and subcutaneous
P. Gupta J. B. Sharma S. Kumar K. K. Roy
Department of Obstetrics and Gynecology, All India Institute
of Medical Sciences, New Delhi 110029, India
R. Sharma (&)A. Gadodia
Department of Radio-diagnosis, All India Institute of Medical
Sciences, New Delhi 110029, India
e-mail: raju152@yahoo.com
123
Arch Gynecol Obstet
DOI 10.1007/s00404-010-1703-y

oedema. No neurological abnormalities were detected.
Diagnosis of Pena–Shokeir syndrome was made. Parents
were informed of the poor prognosis; however, they deci-
ded to continue the pregnancy. A still born male child was
born at 34 weeks of gestation. Gross pathological exami-
nation revealed scoliosis, flexion deformity at wrist, elbow,
hip and knee joints, micrognathia, club foot and a small
chest (Fig. 3a). Radiography showed scoliosis, bilateral
flexion at the elbows, wrists, and knees (Fig. 3b). No
underlying bony abnormality was seen. Diagnosis of fetal
dyskinesia syndrome, consistent with Pena–Shokeir syn-
drome type 1 was made.
Discussion
In 1974, Pena and Shokeir first described this lethal auto-
somal recessive syndrome characterized by arthrogryposis,
camptodactyly, facial anomalies and pulmonary hypoplasia
in two siblings [1]. In 1985, MacMillan et al. [2] diagnosed
Pena–Shokeir syndrome type I prenatally using sonogra-
phy. Since, then several cases of prenatal sonography
findings have been reported [3–6]. Sonographic diagnosis
is based on absent fetal movement and abnormal limb
position. To the best of our knowledge, there are only two
reports of antenatal MR findings in Pena–Shokeir syn-
drome [7,8]. We report the prenatal sonographic, MR
findings of Pena–Shokeir phenotype with pathological
correlation. It is a rare syndrome with an incidence of
approximately 1 in 12,000 births. Such babies have a poor
prognosis with approximately 30% of affected infants
stillborn and most live births die in early neonatal period
due to complications of pulmonary hypoplasia.
In utero continuous fetal movement is essential for
development of normal respiratory and limb function. If
movements stop, the joints become stiff and muscle mass
decreases. The polyhydramnios and pulmonary hypoplasia
are related to depressed swallowing and absence of normal
Fig. 1 T2W MR coronal
(a) and oblique (b) images
demonstrate persistent flexion
of bilateral wrist and elbow
joints with extension of the
fingers, partial flexion at knee
joint and bilateral club foot
Fig. 2 Fetal T2W MR coronal
(a) image reveals distorted spine
with scoliosis and pulmonary
hypoplasia. Sagittal TRU-FISP
(b) image shows
retromicrognathia. MR images
demonstrate extensive skin and
subcutaneous edema and
polyhydramnios. No
neurological abnormalities
were detected
Arch Gynecol Obstet
123

fetal breathing [9]. Pena–Shokeir syndrome is character-
ized by the arthrogryposis, facial anomalies (microgna-
thia), pulmonary hypoplasia, and dysmorphic features
resulting from fetal akinesia. Pena–Shokeir syndrome
affects the muscles of the back, upper and lower limbs and
the deformities are classically bilateral and symmetrical.
Senocak et al. [7] reported antenatal MR findings of Pena–
Shokeir syndrome and demonstrated muscle atrophy and
accompanying fatty replacement using T2W sequences.
Authors concluded that fetal MR should be done in cases
with arthrogryposis to document CNS and other abnor-
malities. In the present case, muscle atrophy was not seen
using T2W and T1W images; only subcutaneous edema
was seen. The differential diagnosis includes Freeman–
Sheldon syndrome, multiple pterygium syndrome, trisomy
18, trisomy 13, Potter syndrome, Neu–Laxova syndrome,
restrictive dermopathy, Larsen syndrome, and cere-
broocular-facial-skeletal syndrome.
In our case, diagnosis was confidently established on
sonography on the basis of distorted spine, persistent
flexion deformity of knees and wrist, absent fetal move-
ment, retromicrognathia and pulmonary hypoplasia. Fetal
MR was done to look for associated neurological malfor-
mation and look for the MR findings of the syndrome.
Since Pena–Shokeir syndrome is a lethal anomaly with
poor prognosis, search for associated malformation is of
more of academic rather than therapeutic interest.
Conflict of interest None.
References
1. Pena SDJ, Shokeir MHK (1974) Syndrome of camptodactyly,
multiple ankyloses, facial anomalies and pulmonary hypoplasia: a
lethal condition. J Pediatr 85:373–375
2. MacMillan RH, Harbert GM, Davis WD, Kelly TE (1985) Prenatal
diagnosis of Pena–Shokeir syndrome type 1. Am J Med Genet
21(2):279–284
3. Tongsong T, Chanprapaph P, Khunamornpong S (2000) Prenatal
ultrasound of regional akinesia with Pena–Shokeir phenotype.
Prenat Diagn 20:422–425
4. Ochi H, Kobayashi E, Matsubara K, Katayama T, Ito M (2001)
Prenatal sonographic diagnosis of Pena–Shokeir syndrome type I.
Ultrasound Obstet Gynecol 17(6):546–547
5. Tongsong T, Chanprapaph P, Khunamornpong S (2000) Prenatal
ultrasound of regional akinesia with Pena–Shokeir phenotype.
Prenat Diagn 20(5):422–425
6. Horrow MM, Rosenberg HK, Schneider AS, Greenberg CM, Zaeri
N (1995) US case of the day. Pena–Shokeir phenotype. Radio-
graphics 15(3):726–729
7. Senocak EU, Oguz KK, Haliloglu G, Karcaaltincaba D, Akata D,
Kandemir O (2009) Prenatal diagnosis of Pena–Shokeir syndrome
phenotype by ultrasonography and MR imaging. Pediatr Radiol
39:377–380
8. Persutte WH, Lenke RR, Kurczynski TW, Brinker RA (1988)
Antenatal diagnosis of Pena–Shokeir syndrome (type I) with
ultrasonography and magnetic resonance imaging. Obstet Gynecol
72:472–475
9. Ajayi RA, Keen CE, Knott PD (1995) Ultrasound diagnosis of the
Pena–Shokeir phenotype at 14 weeks of pregnancy. Prenat Diagn
15:762–764
Fig. 3 Post-mortem photograph
(a) demonstrates scoliosis,
flexion deformity at wrist,
elbow, hip and knee joints,
micrognathia, club foot and a
small chest. Radiograph of the
abortus (b) reveals scoliosis,
bilateral flexion at the elbows,
wrists, and knees. No
underlying bony abnormality
was seen
Arch Gynecol Obstet
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