LymphedemaV1, Istex, Corpus, bibRecord, 006B59

Constriction Rings and Congenital Amputations of the Fingers and Toes in a Mild Case of Amniotic Band Syndrome

Identifieur interne : 006B59 ( Istex/Corpus ); précédent : 006B58; suivant : 006B60

Constriction Rings and Congenital Amputations of the Fingers and Toes in a Mild Case of Amniotic Band Syndrome

Auteurs : Lisa M. Allen ; Robert K. Silverman ; John T. Nosovitch ; Tammy M. Lohnes ; Kathleen D. Williams

Source :

Journal of Diagnostic Medical Sonography [ 8756-4793 ] ; 2007-09.

RBID : ISTEX:E5487E2B88218CAC789B16CA6C3A04DA6573D2E0

Abstract

Amniotic band syndrome (ABS) may result in fetal anomalies that vary in severity from minor to lethal. Although numerous conditions have been grouped with this diagnosis, a subset of this population will have no other intrauterine abnormalities other than isolated defects of the extremities. ABS may present as constriction rings and congenital amputation affecting the limbs and digits. Routine sonographic evaluation of the fetus in the second trimester can identify the major defects associated with ABS. Detailed evaluation of the fetal extremities, including views of the hands and feet, will increase the detection of minor defects.

Url:

https://api.istex.fr/document/E5487E2B88218CAC789B16CA6C3A04DA6573D2E0/fulltext/pdf

DOI: 10.1177/8756479307306522

Links to Exploration step

ISTEX:E5487E2B88218CAC789B16CA6C3A04DA6573D2E0

Le document en format XML

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<meta-value>280 Constriction Rings and Congenital Amputations of the Fingers and Toes in a Mild Case of Amniotic Band Syndrome SAGE Publications, Inc.200710.1177/8756479307306522 Lisa M.Allen BS, RDMS, RDCS, RVT Regional Perinatal Center, State University of New York Upstate Medical University at Syracuse, allenlm@upstate.edu Robert K.Silverman MD Regional Perinatal Center, State University of New York Upstate Medical University at Syracuse John T.Nosovitch MD Regional Perinatal Center, State University of New York Upstate Medical University at Syracuse Tammy M.Lohnes RN, RDMS Regional Perinatal Center, State University of New York Upstate Medical University at Syracuse Kathleen D.Williams RDMS, RDCS Regional Perinatal Center, State University of New York Upstate Medical University at Syracuse Amniotic band syndrome (ABS) may result in fetal anomalies that vary in severity from minor to lethal. Although numerous conditions have been grouped with this diagnosis, a subset of this population will have no other intrauterine abnormalities other than isolated defects of the extremities. ABS may present as constriction rings and congenital amputation affecting the limbs and digits. Routine sonographic evaluation of the fetus in the second trimester can identify the major defects associated with ABS. Detailed evaluation of the fetal extremities, including views of the hands and feet, will increase the detection of minor defects. amniotic band syndrome congenital amputation constriction rings prenatal diagnosis sonography Severe forms of amniotic band syndrome (ABS) can be detected by sonography during rou- tine anatomic screening examinations in the sec- ond trimester. However, current sonographic practice guidelines recommend documentation of the extremities (presence or absence of) but do not require evaluation of the fetal hands and feet.1 Therefore, it is reasonable to infer that the type of minor ABS defect described in this case may not be identified until after birth. If views of the hands and feet were to be incorporated into the routine prenatal evaluation of the fetus, minor defects of the hands and feet would be identified with increased frequency. Three-dimensional sonogra- phy can be useful in assessing the bony and soft tis- sue involvement. Although 3D sonography did not have a significant impact on the diagnosis or man- agement in this particular case, the use of this tech- nology served as a visual tool to help prepare the family with realistic expectations as to the extent and the severity of the abnormality. 281 FIG. 1. This image of the fetal left hand demonstrates a constriction ring of the digit (arrow). Case Report A young pregnant girl was referred to the Regional Perinatal Center for consultation and eval- uation due to a suspected abnormality of the fetal hands and feet. She was a late care seeker, and her first prenatal visit to her referring physician was at approximately 20 weeks of gestation. A sonogram was performed to establish gestational age and eval- uate fetal anatomy. The results were consistent with an average gestational age of 20 weeks and 5 days, and no discrete abnormality was detected. A follow- up scan was performed at 29 weeks to calculate the estimated fetal weight, evaluate the amniotic fluid volume, and measure cervical length. An incidental finding at that time was abnormal splaying of the toes of the left foot and failure to extend the digits of the left hand. A more detailed examination two weeks later confirmed the splaying of the great toe of the left foot. An abnormality of the left hand and the possible presence of micrognathia were also sus- pected. She had not undergone chorionic villus sam- pling nor did she have an amniocentesis. Once referred to our facility, a detailed survey of the fetal anatomy was accomplished at 32 weeks' gestation with no major omissions. Sonographic assessment of the placenta, membranes, uterus, and FIG. 2. Standard 2D evaluation of the fetal left hand showed abnormal digits. amniotic fluid volume was unremarkable. Micrognathia was not suspected from the views obtained. No major structural congenital anom- alies were detected. However, 2D sonography demonstrated an abnormal appearance of the cen- tral digits of the left hand with a constriction ring noted around the soft tissue of the second and fourth digits (Figs. 1, 2). Further evaluation of the left hand, implementing 3D sonography, provided an additional perspective (Fig. 3). The views of the left foot revealed an abnormally short great toe with significant splaying noted between the great and second toes (Fig. 4). A right club foot defor- mity was also noted. The prenatal diagnosis of amniotic band syndrome was made based on the presence of constriction rings. The patient was counseled concerning the cosmetic and orthopedic implications of the diagnosis. Due to the fact that this minor presentation of amniotic band syn- drome did not involve any major organ system and was not life threatening, the patient was returned to her referring physician's office for ongoing rou- tine prenatal care. At 36 weeks' gestation, the woman delivered at another facility by repeat Cesarean section without complication. The newborn male was evaluated by pediatric orthopedic specialists in the neonatal 282 FIG. 3. Three-dimensional surface rendering of the left hand and abnormal digits. FIG. 4. Image of the left foot showing splaying and a defi- cient great toe (arrow). period. He was placed in a closed cast regiment for a right clubbed foot. The remaining physical examination revealed a deficient great toe of the left lower extremity. It was absent from the level of the interphalangeal joint (Fig. 5). The left hand showed absent tips of the index, middle, and ring fingers, and constriction rings were apparent (Figs. 6, 7). Micrognathia was not present. The physical description was most consistent with congenital FIG. 5. Postnatal photograph of the boy's left foot confirm- ing prenatal findings (arrow) (compare with Fig. 4). FIG. 6. Postnatal photograph of the left hand demonstrat- ing congenital amputations and constriction rings of the dig- its (arrows). amputations and constriction rings as a result of ABS. There was no need for prosthetic or adapta- tion devices at this early age. The boy will be reevaluated when he is one year old. Discussion ABS has been defined as a set of congenital mal- formations ranging from minor constriction rings and lymphedema of the digits to complex and bizarre multiple congenital anomalies that are attributed to amniotic bands that stick, entangle, and disrupt fetal 283 FIG. 7. A postnatal photograph of the left hand clearly demon- strates the constriction ring seen prenatally in Figure 1 (arrow). parts.2 Common sonographic findings include but are not limited to extremity anomalies, asymmetric encephaloceles and facial clefts, scoliosis, and ante- rior abdominal wall defects. Several synonyms for ABS are identified in the literature, including ADAM complex (amniotic deformities, adhesion, mutilation), amniotic band sequence, amniotic disruption com- plex, annular grooves, congenital amputation, con- genital constricting band syndrome, stricter bands, transverse terminal defects of limb, aberrant tissue bands, amniochorionic mesoblastic fibrous strings, and amniotic bands.3,4 The reported frequency is 1 in 1200 to 1 in 15,000 live births.5 There have been reports of familial amniotic bands and an association with connective tissue disorders.6,7 A proposed asso- ciation with amniotic band syndrome and amniocen- tesis has been reported.8,9 In addition, isolated asymmetric limb defects have also been linked to chorionic villus sampling.10,11 Although the etiology is not precisely known, some theories have suggested teratogenic, multi- factorial, and genetic factors that cause a rupture of an amnion. Despite the controversy over the pathogenesis of ABS, the generally accepted theory in the obstetric literature is that of Torpin.5 This exoge- nous theory suggests that the amniotic bands themselves cause the fetal anomalies. Early amnion rupture, for whatever reason, in early pregnancy leads to entrapment of fetal structures with subsequent multiple fetal anomalies. It has been speculated that these “sticky” mesodermal fibrous strings develop and encircle the fetal parts to produce constriction rings of the extremities and other bizarre asymmetric anomalies. These con- striction bands lead to a decreased vascular supply and venous congestion to the constricted structure, resulting in swelling, lymphedema, and subse- quent natural amputation. In contrast, the alterna- tive theory suggests that constriction bands may represent lesions of the germinal disk. According to this endogenous theory, ABS may result from a ter- atogenic event occurring during the formation of the amniotic cavity and the laying down of the germinal disk. This hypothesis may explain the internal anomalies that have been described in association with amniotic band syndrome.12 Based on this pro- posed mechanism, the occurrence of the amniotic band should be considered more the result of the defect rather than the cause of the fetal anomalies.13 In 1995, a fetal lamb model of amniotic band syn- drome was developed to study the pathophysiology of banded extremities and evaluate the possibility of an in utero treatment with potential for functional recov- ery. This model studied the effects of extremity con- striction in utero and assessed the morphological, histological, and functional response of the fetal lamb to fetoscopic release of constrictive bands. It was con- cluded that the model replicated all the clinical fea- tures of ABS in human fetuses affected by constrictive extremity bands.14 The findings of this model seem to support Torpin's exogenous theory. Prenatal sonographic demonstration of congenital constriction rings involving the extremities has been described.15,16 A review of the literature revealed several cases where surgical intervention was beneficial when there was limb involvement. In 1997, Quintero and colleagues17 reported two cases that represent the first successful prenatal surgical intervention used to treat constricting amniotic bands in humans. In 2003, fetoscopic release of amniotic bands for threatened limb amputation in two patients was described.18 In 2006, a case was reported that involved both fetal legs, and blood flow to the distal extremities was compromised. The constriction ring was successfully released by a minimally invasive 284 endoscopic surgical technique avoiding severe limb dysfunction or amputation.19 Sentilhes and col- leagues20 describe a favorable outcome in a case involving a tight constriction band located in the lower third aspect of the right leg at 24 weeks' gesta- tion despite a failed attempt at surgical intervention. In 2004, Paladini and colleagues21 described a case of a constriction band at the supracondylar level of the left arm noted at 28 weeks. Three-dimensional sonog- raphy was instrumental in the diagnosis, counseling, and multidisciplinary consultation. Spontaneous reso- lution or lysis of an amniotic band attached to the fetal elbow has also been described.22 Another case of ABS has been reported where the process of in utero limb amputation was documented with serial sonographic and Doppler observations. Initial sonographic evalua- tion demonstrated lower limb edema and the presence of a constriction ring around both legs. Color Doppler revealed blood flow distal to the level of insult. Subsequent examinations revealed absence of blood flow in this location with gradual amputation of the leg distal to the knee.23 Management of amniotic band syndrome depends on the severity and distribution of anom- alies. The prognosis is variable based on the extent of fetal involvement. Counseling options would include termination of pregnancy in severe cases or where findings are incompatible with life. Prenatal referrals to pediatric specialists may be appropriate if continuation of pregnancy is chosen, and delivery at a tertiary care center should be arranged. Cases of minor involvement would require no prenatal inter- vention but would necessitate proper postnatal evaluation so that the appropriate management and treatment can be determined. Three-dimensional surface rendering may prove superior to conven- tional 2D sonography for diagnosis, counseling, and interdisciplinary consultation.21 Serial sonograms and the use of Doppler technology have been shown to be effective to assess vascular compromise and evaluate the severity and impact of constriction rings of the extremities.20,23 It has been suggested that fetal surgical intervention for nonlethal isolated limb con- striction may be indicated in cases where it has been determined that the fetal benefits outweigh the risks.14,18-20 Due to the fact that the most common finding in amniotic band syndrome is constriction rings of the fingers and toes, one might consider including evaluation of the hands and feet in the detailed sonographic assessment of the fetal anatomy.24 This could increase the frequency of pre- natal detection of this minor manifestation of amni- otic band syndrome. Conclusion Prenatal diagnosis of amniotic band syndrome of varying severity has been reported extensively. Case studies of constriction rings and congenital amputations of the extremities have been described, but a review of the literature failed to find any reports with images describing the subtle isolated defects of the fingers and toes. If defects are confined to the digits, the prognosis is excel- lent, and the functional needs of the baby can be assessed in the postnatal period. References AIUM Practice Guidelines for the Performance of an Antepartum Obstetric Ultrasound Examination. American Institute of Ultrasound in Medicine, 2003. Available at: http:// aium.org/publications/clinical/obstetrical.pdf. Callen PW: Ultrasonography in Obstetrics and Gynecology. 4th ed. Philadelphia, W. B. Saunders , 2000. Buyse ML: Birth Defects Encyclopedia. Cambridge, UK, Blackwell Scientific , 1990. Seeds JW, Cefalo RC, Herbert WN: Amniotic band syndrome. Am J Obstet Gynecol 1982;144:243—248. Torpin R.: Amniochorionic mesoblastic fibrous strings and amniotic bands: associated constricting fetal malformations or fetal death. Am J Obstet Gynecol 1965;91:65—75. Lubinsky M., Sujansky E., Sanger W., Salyards P., Severn C.: Familial amniotic bands. Am J Med Genet 1983 ;14:81—87. Young ID, Lindenbaum RH, Thompson EM, Pembrey ME: Amniotic bands in connective tissue disorders. Arch Dis Child 1985;60:1061—1063. Lage JM, VanMarter LJ, Bieber FR: Questionable role of amniocentesis in the etiology of amniotic band formation: a case report. J Reprod Med 1988;33:71—73. Moessinger AC , Blane WA, Byrne J., Andrews D., Warburton D., Bloom A.: Amniotic band syndrome associated with amniocentesis . Am J Obstet Gynecol 1981;141:588—591. Boyd PA, Keeling JW, Selinger M., Mackenzie IZ: Limb reduction and chorion villus sampling. Prenat Diagn 1990;10:437—441. Golden CM, Ryan LM, Holmes LB: Chorionic villus sampling: a distinctive teratogenic effect on fingers. Birth Defects Res (Part A) 2003;67:557—562. 285 Streeter GL: Focal deficiencies in fetal tissues and their relation to intra-uterine amputation . Contrib Embryol 1930;22:1—44. Bronshtein M. , Zimmer EZ: Do amniotic bands ampute fetal organs? Ultrasound Obstet Gynecol 1997;10:309—311. Crombleholme TM, Dirkes K., Whitney TM, Alman B., Garmel S., Connelly RJ: Amniotic band syndrome in fetal lambs: I. Fetoscopic release and morphometric outcome. J Pediatr Surg 1995;30:974—978. Laberge LC, Ruszkowski A., Morin E.: Amniotic band attachment to a fetal limb: demonstration with real-time sonography . Ann Plast Surg 1995;35:316—319. Hill L., Kislak S., Jones N.: Prenatal diagnosis of a forearm constriction band. J Ultrasound Med 1998;7:293—295. Quintero RA , Morales WJ, Philips J., Kalter CS, Angel JL: In utero lysis of amniotic bands. Ultrasound Obstet Gynecol 1997;10:316—320. Keswani SG, Johnson MP, Adzick NS, et al: In utero limb salvage: fetoscopic release of amniotic bands for threatened limb amputation. J Pediatr Surg 2003;38:848—851. Ronderos-Dumit D., Briceno F., Navarro H., Sanchez N.: Endoscopic release of limb constriction rings in utero. Fetal Diagn Ther 2006;21:255—258. Sentilhes L. , Verspyck E., Eurin D., et al: Favourable outcome of a tight constriction band secondary to amniotic band syndrome. Prenat Diagn 2004;24:198—201. Paladini D. , Foglia S., Sglavo G., Martinelli P.: Congenital constriction band of the upper arm: the role of three-dimensional ultrasound in diagnosis, counseling and multidisciplinary consultation. Ultrasound Obstet Gynecol 2004;23:520—522. Pedersen TK , Thomsen SG: Spontaneous resolution of amniotic bands . Ultrasound Obstet Gynecol 2001;18:673—674. Tadmor OP, Kreisberg GA, Achiron R., Porat S., Yagel S.: Limb amputation in amniotic band syndrome: serial ultrasonographic and Doppler observations. 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<mods version="3.6"><titleInfo lang="en"><title>Constriction Rings and Congenital Amputations of the Fingers and Toes in a Mild Case of Amniotic Band Syndrome</title>
</titleInfo>
<titleInfo type="alternative" lang="en" contentType="CDATA"><title>Constriction Rings and Congenital Amputations of the Fingers and Toes in a Mild Case of Amniotic Band Syndrome</title>
</titleInfo>
<name type="personal"><namePart type="given">Lisa M.</namePart>
<namePart type="family">Allen</namePart>
<namePart type="termsOfAddress">BS, RDMS, RDCS, RVT</namePart>
<affiliation>Regional Perinatal Center, State University of New York Upstate Medical University at Syracuse,</affiliation>
<affiliation>E-mail: allenlm@upstate.edu</affiliation>
</name>
<name type="personal"><namePart type="given">Robert K.</namePart>
<namePart type="family">Silverman</namePart>
<namePart type="termsOfAddress">MD</namePart>
<affiliation>Regional Perinatal Center, State University of New York Upstate Medical University at Syracuse</affiliation>
</name>
<name type="personal"><namePart type="given">John T.</namePart>
<namePart type="family">Nosovitch</namePart>
<namePart type="termsOfAddress">MD</namePart>
<affiliation>Regional Perinatal Center, State University of New York Upstate Medical University at Syracuse</affiliation>
</name>
<name type="personal"><namePart type="given">Tammy M.</namePart>
<namePart type="family">Lohnes</namePart>
<namePart type="termsOfAddress">RN, RDMS</namePart>
<affiliation>Regional Perinatal Center, State University of New York Upstate Medical University at Syracuse</affiliation>
</name>
<name type="personal"><namePart type="given">Kathleen D.</namePart>
<namePart type="family">Williams</namePart>
<namePart type="termsOfAddress">RDMS, RDCS</namePart>
<affiliation>Regional Perinatal Center, State University of New York Upstate Medical University at Syracuse</affiliation>
</name>
<typeOfResource>text</typeOfResource>
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<place><placeTerm type="text">Sage CA: Los Angeles, CA</placeTerm>
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<dateIssued encoding="w3cdtf">2007-09</dateIssued>
<copyrightDate encoding="w3cdtf">2007</copyrightDate>
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<language><languageTerm type="code" authority="iso639-2b">eng</languageTerm>
<languageTerm type="code" authority="rfc3066">en</languageTerm>
</language>
<physicalDescription><internetMediaType>text/html</internetMediaType>
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<abstract lang="en">Amniotic band syndrome (ABS) may result in fetal anomalies that vary in severity from minor to lethal. Although numerous conditions have been grouped with this diagnosis, a subset of this population will have no other intrauterine abnormalities other than isolated defects of the extremities. ABS may present as constriction rings and congenital amputation affecting the limbs and digits. Routine sonographic evaluation of the fetus in the second trimester can identify the major defects associated with ABS. Detailed evaluation of the fetal extremities, including views of the hands and feet, will increase the detection of minor defects.</abstract>
<subject><genre>keywords</genre>
<topic>amniotic band syndrome</topic>
<topic>congenital amputation</topic>
<topic>constriction rings</topic>
<topic>prenatal diagnosis</topic>
<topic>sonography</topic>
</subject>
<relatedItem type="host"><titleInfo><title>Journal of Diagnostic Medical Sonography</title>
</titleInfo>
<genre type="journal">journal</genre>
<identifier type="ISSN">8756-4793</identifier>
<identifier type="eISSN">1552-5430</identifier>
<identifier type="PublisherID">JDM</identifier>
<identifier type="PublisherID-hwp">spjdm</identifier>
<part><date>2007</date>
<detail type="volume"><caption>vol.</caption>
<number>23</number>
</detail>
<detail type="issue"><caption>no.</caption>
<number>5</number>
</detail>
<extent unit="pages"><start>280</start>
<end>285</end>
</extent>
</part>
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<identifier type="istex">E5487E2B88218CAC789B16CA6C3A04DA6573D2E0</identifier>
<identifier type="DOI">10.1177/8756479307306522</identifier>
<identifier type="ArticleID">10.1177_8756479307306522</identifier>
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Constriction Rings and Congenital Amputations of the Fingers and Toes in a Mild Case of Amniotic Band Syndrome

Constriction Rings and Congenital Amputations of the Fingers and Toes in a Mild Case of Amniotic Band Syndrome

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