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Letters to the Editor

Antenatal Sonographic Features


of Poland Syndrome on 2- and
3-Dimensional Sonography
To the Editor: A 32-year-old woman, gravida 5,
para 3, was referred to our prenatal diagnostic
center at 27 weeks 6 days of gestation for further
clarification of hand aplasia of the right upper
limb on sonography. Amniocentesis had shown
a normal 46,XY karyotype.
A Volusion E8 ultrasound system (GE Healthcare,
Milwaukee, WI) with a transabdominal (4- to
8-MHz) probe was used for high-resolution 2dimensional and 3-dimensional (3D) imaging.
The presence of severe hypoplasia of the right
forearm and aplasia of the right hand (Figure 1)
was confirmed. A secondary cesarean delivery
was performed at 40 weeks 2 days of gestation
because of a breech presentation, and a 3525-g
neonate was delivered (Apgar scores, 9, 10, and
10 at 1, 5, and 10 minutes, respectively). The
umbilical cord pH was 7.33; body length, 52 cm;
and head circumference, 37 cm, all in normal
condition. There were no open limbs at the time
of birth; no corrective surgery was attempted
postnatally; and the placenta revealed no abnormality. On a postnatal radiograph, radial and
ulnar dysplasia of the right forearm and total
aplasia of the right hand were verified (Figure 2).
From the outer appearance, the 3-month old
boy was lively and aroused, attempting use of his
right forearm (Figure 3). His right body half was
trained to prevent hypotrophy and degeneration.
The other limbs were formed normally, and the
nipples appeared further apart because of the
missing pectoralis major muscle on the right side.
As reported by Jones1 and Lord et al,2 Poland
syndrome is the most common condition in
which upper limb and pectoral muscle anomalies are observed, accounting for an incidence of
1 per 7000 to 100,000 live births. It has been
described more often in boys than girls (ratio 3:1)
and occurs in 60% of 75% of cases on the right
side.3,4 The etiology is still unknown, but an insult
during vascular differentiation in the sixth week
of gestation may be responsible for this anomaly.5 Precise imaging of the limb defects in utero is
important for proper management and counseling. Suspicious findings on high-resolution

sonography should be referred to specific postnatal data sets to compare for survival chances,
treatment options, and results.6 Classifications
divide hand anomalies into 7 types according to
the severity of the deformity: from the least severe
involvement with hypoplasia alone (type 1) to the
most severe involvement, in which no functional
digits are present (type 7). Our case of a hand
anomaly would be classified as type 7 Poland
syndrome with an additional chest deformity.
Upper limb anomalies and syndactyly can also
be associated with other syndromes, such as
CHILD syndrome (congenital hemidysplasia with
ichthyosiform erythroderma and limb defects),
Holt-Oram syndrome, and Apert syndrome.7
Figure 1. A, Second-trimester 3D sonogram showing the radial and ulnar dysplasia of the right forearm and the aplasia of the
right hand, in contrast to the normally developed left hand of
the fetus. B, Second-trimester 3D sonogram showing the whole
upper right limb with the right hand aplasia in close-up. The
radial and ulnar dysplasia is also shown.

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Letters to the Editor

raphy can be used to narrow down the possible


diagnoses. Further tests, including molecular
genetics, help in assessing the findings.8
Ania L. Berdel
Wolfgang Henrich, MD
Department of Obstetrics
Charit
Virchow Clinic Campus
Berlin, Germany

Figure 2. Postnatal radiograph of the right arm obtained on the


day of birth (courtesy of Christian Bassir, MD, Department of
Pediatric Radiology, Charit). The total aplasia of the hand and
the dysplasia of the radius and ulna can be seen clearly. This
image confirms the accuracy with which the right forearm
deformation was described antenatally on 3D sonography.

References

Accurate depiction of the defect on 3D sonography can help in better predicting physical development. Its high specificity was confirmed in our
case (to our knowledge the first case with antenatal 3D sonography of the upper limb published)
by postnatal radiography of the right arm.
Possible malformations that may coexist with
Poland syndrome have been described in the different body systems,5 making a thorough physical
examination antenatally and postnatally necessary. In a recent study concerning the antenatal
sonographic diagnosis of skeletal dysplasias, it
was shown that a specific confirmation of the dysplasias severity is often possible by prenatal
sonography alone. In inconclusive cases, sonog-

1.

Jones HW. Congenital absence of the pectoral muscles. Br


Med J 1926; 6:5960.

2.

Lord MJ, Laurenzano KR, Hartmann RW Jr. Polands syndrome. Clin Pediatr (Phila) 1990; 29:606609.

3.

Fokin AA, Rubicsek F. Polands syndrome revised. Ann


Thorac Surg 2002; 74:22182225.

4.

Moir CR, Johnson CH. Polands syndrome. Semin Pediatr


Surg 2008; 17:161166.

5.

Al-Qattan MM. Classification of hand anomalies in Polands


syndrome. Br J Plast Surg 2001; 54:132136.

6.

Paladini D, DArmiento MR, Martinelli P. Prenatal ultrasound diagnosis of Poland syndrome. Obstet Gynecol
2004; 104:11561159.

7.

Syndactyly. eMedicine website. http://emedicine.medscape.


com. Accessed February 5, 2009.

8.

Schramm T, Gloning KP, Minderer S, et al. Prenatal sonographic diagnosis of skeletal dysplasias. Ultrasound Obstet
Gynecol 2009; 34:160170.

Figure 3. Three-month-old boy with Poland syndrome showing


the deformity of the right forearm with radial and ulnar dysplasia and aplasia of the right hand. The absence of the right pectoralis muscle can also be seen, hence the resulting large distance between the nipples.

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