D'ARMIENTO, MARIA

MARTINELLI, PASQUALE

PALADINI, DARIO

English

Paladini, D

D’Armiento, M

Martinelli, P

Archivio della ricerca - Università degli studi di Napoli Federico II

Prenatal ultrasound diagnosis of poland syndrome

Dario Paladini

Maria Rosaria D'Armiento

Pasquale Martinelli

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Obstetrics and Gynecology

Prenatal Ultrasound Diagnosis of Poland Syndrome

CASE REPORTPrenatal Ultrasound Diagnosisof Poland SyndromeDario Paladini, MD,Maria Rosaria D’Armiento, MD, andPasquale Martinelli, MDFetal Cardiology Unit, Department of Gynecology and Obstetrics, and Departmentof Pathology, University Federico II of Naples, ItalyBACKGROUND: Poland syndrome is a congenital nongeneticanomaly characterized by unilateral chest wall hypoplasia,ipsilateral hand abnormalities, and hemivertebrae. It hasnot ben described so far in the fetus.CASE: The patient was referred for suspected left-arm hy-pomelia at 22 weeks of gestation. On ultrasonography, weconfirmed the presence of severe left-sided hypomelia anddetected an asymmetry of the rib cage and 3 thoracichemivertebrae. The absence of heart defects led us to makethe putative diagnosis of Poland syndrome. After termina-tion of pregnancy, the diagnosis was confirmed by thepathologist.CONCLUSION: The possibility of diagnosing Poland syn-drome in utero is important for proper management andcounseling. If the syndrome is suspected in a fetus, counsel-ors may refer to specific postnatal data to provide thecouple with survival rates, treatment options, and resultsand morbidity figures. If the pregnancy is terminated, adetailed necropsy is warranted to confirm the diagnosisbecause familial transmission has been reported. (ObstetGynecol 2004;104:00–00. © 2004 by The American Col-lege of Obstetricians and Gynecologists.)Poland syndrome is a rare congenital nongenetic anom-aly with an incidence of 1:7,000 to 1:100,000 live births.1It represents a sporadic condition, but familial transmis-sion has been reported in some cases.2 Poland syndromeis characterized by unilateral chest wall hypoplasia, ipsi-lateral hand abnormalities, and hemivertebrae and af-fects the right side of the body in 60–75% of the cases.1According to the prevailing pathogenetic theory, it is theinterruption of the embryological blood supply to thesubclavian artery at the end of the 6th week of gestationthat causes the syndrome, with the severity of the anom-alies depending on the site and the degree of flow impair-ment.3 In fact, Poland syndrome covers a spectrum ofanomalies ranging from complete absence of pectoralismajor and minor muscles, amastia, severe rib anomalies,and absence of the hand to minor hand abnormalitiesand isolated pectoralis minor muscle aplasia.4 We reporthere the prenatal ultrasound diagnosis of Poland syn-drome made at 22 weeks of gestation in a fetus withsevere left hypomelia and rib cage asymmetry.CASEA gravida 2 was referred to our attention at 22 weeks ofgestation for suspicion of left hypomelia in the fetus. Byultrasonography we confirmed the presence of severehypoplasia of the whole left arm and hand (Fig. 1A). Inparticular, the clavicle, humerus, ulna, and metacarpalswere highly hypoplastic, and the radius was completelyabsent. In addition, we detected an evident asymmetryof the rib cage (Fig. 1B), with at least 4 hypoplastic ribson the right side and the presence of 3 thoracic hemiver-tebrae (Fig. 1C). The absence of heart defects and thedetection of at least 3 hemivertebrae led us to make theputative diagnosis of Poland syndrome, consideringthe presence of CHILD (Congenital Hemidysplasia withIchthyosiform erythroderma and Limb Defects) syn-drome less likely, although not completely excludible.An attempt was made to visualize the left subclavianartery by color Doppler, but the extent of the lesion andthe fixed position of the left hypoplastic arm on thethorax impaired proper visualization. After counseling,the couple opted for termination of pregnancy.The necropsy of the 426-g female fetus confirmed thediagnosis of Poland syndrome. In particular, the follow-ing abnormalities were detected on the babygram: theleft arm was highly hypoplastic, with the hypoplasiainvolving the scapulo-humeral joint, clavicle, humerus,and ulna. The radius was absent. The hand presentedoligo-brachy-syndactyly, with 2 metacarpal rays, agene-sis of the 5th digit, and syndactyly of the 2nd and the 3rdones (Fig. 2). The ipsilateral foot had 3 metatarsal rays.As for the spine, 4 thoracic hemivertebrae were present.At dissection of the specimen, a pterygium-like attach-ment of the malformed left arm to the thorax was noted,with athelia (complete absence of the nipple and areola)and amastia. The sterno-costal head of the pectoralismajor muscle and the whole of the pectoralis minormuscle were absent. The rib cage was asymmetrical,with rib abnormalities on the right side. The heart wasunremarkable.Address reprint requests to: Dario Paladini, MD, Via Petrarca, 72,80122 - Naples, Italy; e-mail: paladini@unina.it.VOL. 104, NO. 2, AUGUST 20041© 2004 by The American College of Obstetricians and Gynecologists. 0029-7844/04/$30.00Published by Lippincott Williams & Wilkins. doi:10.1097/01.AOG.0000128115.55051.90AQ: 1F1F2AQ: 2COMMENTPoland syndrome is an extremely rare condition charac-terized by hypoplasia of the breast and nipple, absence ofthe costo-sternal head of the pectoralis major muscle,absence of the pectoralis minor muscle, rib abnormali-ties, and unilateral brachysyndactyly.3 Although theseabnormalities, when severe, are potentially detectable byultrasonography in utero, this condition has not beendescribed in the fetus before. In particular, we could notfind any article in the English literature describing theoccurrence of Poland syndrome in a human fetus in aMEDLINE search (http://www3.ncbi.nlm.nih.gov/Entrez)conducted with the terms “Poland syndrome” or “Polandsequence” and “fetus,” with no time limits.Differential diagnosis in the fetus is limited to thoseconditions characterized by body asymmetry, such asCHILD syndrome, and to the cluster of anomaliescaused by the occurrence of thoracic hemivertebrae,such as chest asymmetry and rib hypoplasia.5 However,in cases of isolated thoracic hemivertebrae, upper limbmalformations are usually absent. The real problem isrepresented by CHILD syndrome. This rare X-linkedcondition, recognized for the first time in 1968,6 has beendemonstrated to be caused by mutations in the glutathi-one reductase (NADPH) steroid dehydrogenase-likeprotein gene.7 It is characterized by unilateral hypome-lia, skin hypoplasia, and, often but not always, majorheart defects. Because the erythroderma of CHILD syn-drome and abnormalities of the chest muscles of Polandsyndrome are not detectable by ultrasonography inutero, the sonographic appearance of the 2 entities issimilar, both featuring a unilateral limb hypomelia with avariable degree of arm and hand involvement. Thedifferential diagnosis is made even more difficult by thepossible occurrence in CHILD syndrome of vertebralanomalies and rib hypoplasia. A possible hint in thedifferential diagnosis issue is the common occurrence inCHILD syndrome of major heart defects, which areindeed detectable in utero.8 However, the final diagnosiscan be reached only at autopsy, when anomalies of thepectoralis muscles and the athelia/amastia are found inPoland syndrome (as in the index case), and the skindefects (erythroderma, regional alopecia, etc) becomeevident in CHILD syndrome. In conclusion, if unilateralrib, chest, and arm anomalies are found at routine midtri-mester ultrasonography, both Poland and CHILD syn-dromes represent possible diagnoses. In such an occur-rence, the detection of congenital heart disease mightindicate the likely presence of CHILD syndrome,whereas the disclosure of thoracic hemivertebrae wouldsupport a diagnosis of Poland syndrome.The possibility of diagnosing Poland syndrome inutero is important for proper management and counsel-ing. Should the syndrome be suspected in a fetus, thecounselors may refer to specific postnatal data to providethe couple with survival rates, treatment options, andresults and morbidity figures. In case of termination ofpregnancy, the prenatal recognition of the syndromestrengthens the need for a detailed necropsy to confirmthe diagnosis because familial transmission has beenreported in some instances.2 In these families, the abilityto reassure the couple that the reoccurrence of Polandsyndrome can be excluded during the second trimesterof pregnancy is of the utmost importance. However,taking into consideration the variable expression of thesyndrome and the ultrasound findings in the index case,2 further points need be addressed: 1) It is likely that, inhigh-risk families, full-blown forms of the syndromecould be detected by ultrasonography as early as the12th–13th gestational weeks, whereas mild forms, fea-Figure 1. A. Oblique scan of the fetal thorax showing thesevere hypomelia. The arm is flexed at the elbow. Note thatno radial and ulnar ossification nuclei are visible in theforearm and that the single digits cannot be distinguishedbecause of the oligo-brachy-syndactyly (arrowhead). B. Trans-verse view of the fetal upper abdomen, showing the hypopla-sia of the ribs on the right side (arrows). The sonolucent arearegularly positioned in the left hemi-abdomen is the stomach.C. Coronal view of the upper thoracic spine demonstrating oneof the hemivertebrae (arrowhead).Paladini. Prenatal Diagnosis of Poland Syndrome. Obstet Gynecol 2004.Figure 2. The specimen at birth. Note the hypomelia, thedeformation of the chest, and the oligo-brachy-syndactyly(magnification of the hand in the lower right-end panel).Paladini. Prenatal Diagnosis of Poland Syndrome. Obstet Gynecol 2004.2 Paladini et al Prenatal Diagnosis of Poland Syndrome OBSTETRICS & GYNECOLOGYAQ: 3AQ: 4turing only pectoralis minor muscle hypoplasia/aplasiaand subtle digit anomalies, may escape prenatal ultra-sound diagnosis completely. 2) Ultrasound differentialdiagnosis between Poland and CHILD syndromes maybe impossible in some cases, with the final diagnosisbased only upon postmortem findings.REFERENCES1. Freire-Maia N, Chautard EA, Opitz JM, Freire-Maia A,Queice-Salgado A. The Poland syndrome: clinical andgenealogical data, dermatoglyphic analysis, and incidence.Hum Hered 1973;23:97–104.2. Sujansky E, Riccardi VM, Mathew AL. The familial occur-rence of Poland syndrome. Birth Defects Orig Artic Ser1977;13:117–21.3. Bavinck JN, Weaver DD. Subclavian artery supply disrup-tion sequence: hypothesis of a vascular etiology for Poland,Klippel-Feil, and Möbius anomalies. Am J Med Genet 1986;23:903–18.4. Fokin AA, Robicsek F. Poland’s syndrome revisited. AnnThorac Surg 2002;74:2218–25.5. Fraser FC, Teebi AS, Walsh S, Pinsky L. Poland sequencewith dextrocardia: which comes first? Am J Med Genet1997;73:194–6.6. Falek A, Heath CW Jr, Ebbin AJ, McLean WR. Unilaterallimb and skin deformities with congenital heart disease intwo siblings: a lethal syndrome. J Pediatr 1968;73:910–3.7. Konig A, Happle R, Fink-Puches R, Soyer HP, BornholdtD, Engel H, et al. A novel missense mutation of NSDHL inan unusual case of CHILD syndrome showing bilateral,almost symmetric involvement. J Am Acad Dermatol 2002;46:594–6.8. Paladini D, Russo MA, Teodoro A, Pacileo G, Capozzi G,Martinelli P, et al. Prenatal diagnosis of congenital heartdisease in the Naples area during the years 1994–1999: theexperience of a joint fetal-pediatric cardiology unit. PrenatDiagn 2002;22:545–52.Received November 3, 2003. Received in revised form January 20,2004. Accepted February 5, 2004.3VOL. 104, NO. 2, AUGUST 2004 Paladini et al Prenatal Diagnosis of Poland Syndrome

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Prenatal ultrasound diagnosis of poland syndrome

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Archivio della ricerca - Università degli studi di Napoli Federico II