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Amniotic Band Syndrome of the Upper Extremity: Diagnosis and Management

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Amniotic Band Syndrome of the Upper Extremity: Diagnosis and Management Amniotic Band Syndrome of the Upper Extremity: Diagnosis and Management Steven L. Moran, MD Abstract Mark Jensen, MD Amniotic band syndrome, a condition involving fetal entrapment César Bravo, MD in strands of amniotic tissue, causes an array of deletions and deformations. Band formation most frequently affects the distal segments, including the hand. Because of the heterogeneous nature of expression of this disease, treatment is individualized. Timing of repair and surgical planning are important in improving functional outcome. In the patient with distal edema and acrosyndactyly, early repair portends better prognosis. Improvements in prenatal diagnosis and fetoscopic surgical technique may eventually allow treatment of amniotic band syndrome in utero. mniotic band syndrome (ABS) sions, and mutations complex; an- Ais a rare condition in which fe- nular defects; Simonart’s band; tal parts become entangled in amni- congenital ring-constriction; limb- otic membrane, leading to constric- body wall malformation complex; tion, deformation, and deletion. early amnion rupture sequence; in- Resulting defects from constricting trauterine or fetal amputation; con- Dr. Moran is Associate Professor, bands range in severity from mild striction band syndrome; Streeter’s Orthopaedic and Plastic Surgery, Mayo constriction to complete limb dele- dysplasia2) attests to the difficulty Clinic College of Medicine, Rochester, tion, anencephaly, and fetal demise. physicians have had in determining MN. Dr. Jensen is Resident, General Amniotic bands most commonly af- its etiology. Surgery, Mayo Clinic. Dr. Bravo is Co- fect the extremities, with a predilec- ABS was first defined based on Director, Microvascular, Hand and tion for the distal segments (Figure the presence of constrictive tissue Upper Extremity Section, Carilion Clinic 1). Deformations affecting the upper bands, amniotic adhesions, and Bone and Joint Center, Roanoke, VA. extremity can be disabling and, be- more complex patterns of anoma- None of the following authors or the cause of the unique presentation in lies, designated as the limb-body departments with which they are each individual, pose a treatment wall complex.3-5 Streeter suggested affiliated has received anything of value challenge. that an intrinsic defect in the subcu- from or owns stock in a commercial taneous germplasm resulted in fo- company or institution related directly or cal mesenchymal hypoplasia, tissue indirectly to the subject of this article: Etiology, Embryology, 1 and Demographics loss, and scarring. The proposed Dr. Moran, Dr. Jensen, and Dr. Bravo. mechanism was thought to be simi- Reprint requests: Dr. Moran, Mayo The earliest recorded account of ABS lar to that involved in the develop- Clinic, Mayo 1244 West, 200 First dates to Hippocrates, who made ref- ment of normal skin folds, which ap- Street SW, Rochester, MN 55905. erence to a syndrome of amputation pear very similar histologically. or band formation caused by fetal In contrast, the extrinsic theory J Am Acad Orthop Surg 2007;15:397- membranes encircling the extremi- proposed that the entanglement of fe- 407 ties or digits.1 The number of syn- tal parts by bands of amniotic tissue Copyright 2007 by the American onyms associated with ABS (annular caused deformation. Histologic evi- Academy of Orthopaedic Surgeons. bands; amniotic disruption se- dence of amniotic tissue within con- quence; amniotic deformity, adhe- striction grooves provided support for Volume 15, Number 7, July 2007 397 For personal use only, do not distribute © 2019 American Academy of Orthopaedic Surgeons Amniotic Band Syndrome of the Upper Extremity: Diagnosis and Management Figure 1 genic process. The upper limb buds appear as small bulges at 24 days, with proliferation of an ectodermal ridge overlying mesodermal tissue. Upper limb morphogenesis occurs in weeks 4 through 8; lower extrem- ity development occurs in weeks 5 through 9. By day 33, the hand plate is visible at the end of the limb bud. Digital rays appear during week 6 on the upper extremity and week 7 on the lower extremity. A process of programmed cell death sculpts these rays into fingers and toes. This process is complete by the end of week 8. During week 5, skeletal elements develop from mesodermal condensa- tions that appear along the long axis of the limb bud. Higginbottom et al12 showed that fetal development and timing of amniotic entrapment greatly altered the expression of ABS. Rupture before 45 days’ gesta- tion led to a higher rate of central abnormalities, including severe cen- Frequency of involvement of the extremities (n = 364) (A) and digits (n = 462) tral nervous system malformations, (B) in amniotic band syndrome.6 (Reproduced with permission from the Mayo truncal defects, and abortion. Later Foundation.) rupture more frequently entrapped the limbs and spared the central structures.12 this idea. Case reports of formed, am- ner, mesenchymal, and outer layers. Protruding fetal structures are putated extremities within the amni- The inner and mesenchymal layers more vulnerable and much more otic cavity suggested that the syn- play an important role in secreting likely to be entrapped than are oth- drome was a deformation rather than collagen, fibronectin, and lamin to er anatomic structures. Numerous a true malformation.1,6 Houben7 and provide a strong elastic and tensile observational studies have indicated Kino8 duplicated similar limb dele- layer. The outer layer, also known as that involvement is more common tions and syndactyly by performing the spongy layer, is adjacent to the in the upper extremities, with a pre- early amniocentesis on rat embryos. chorion; it can swell to accommodate dilection for the distal segments of These authors suggested that extrin- sliding of the amnion across the the hand.1,8,13 Middle digits are most sic forces on the limb buds led to chorion. The membranes are seen on commonly involved, with relative hemorrhage of the distal marginal ultrasound as two separate and dis- sparing of the thumb. This pattern blood sinuses, which in turn led to tinct entities until approximately correlates with fetal positioning, hematoma formation, scarring, dele- 3 months’ gestation, when the with either outstretched fingers or a tion, and acrosyndactyly. Medical chorion and amnion fuse. Defects or clenched thumb in the palm, pro- imaging technology has confirmed tears of the inner membrane can lead tected by the other digits.1,8,13 the extrinsic theory by demonstrat- to fetal entrapment. Transient oligo- No two cases of constriction ing the presence of constricting bands hydramnios caused by the loss of am- bands are identical. Fetal banding of fetal membranes that lead to niotic fluid also may contribute to gives rise to varying degrees of de- deformation.9-11 deformation of early limb buds, in- fects, ranging from skin dimpling and Fetal membranes are composed of cluding the occurrence of clubfoot soft-tissue constriction rings to com- two distinct layers: the amnion and deformity.8 plete deletion (Figure 2). Soft-tissue the chorion. The inner amnion, The stage of limb development at strictures can disrupt neurovascular which provides the majority of ten- time of entrapment determines the bundles, resulting in distal anes- sile strength, is composed of the in- physical appearance of the patho- thesia, peripheral nerve palsy, vascu- 398 Journal of the American Academy of Orthopaedic Surgeons For personal use only, do not distribute © 2019 American Academy of Orthopaedic Surgeons Steven L. Moran, MD, et al Figure 2 Amniotic band syndrome can present with a spectrum of deformity. A, Mild involvement may present with only skin dimpling or banding. B, A 4-year-old with nerve compression and lymphedema caused by more severe circumferential banding. C, The hand of the same child as in panel A, demonstrating evidence of a noteworthy deformity, with truncation of finger length and evidence of acrosyndactyly. lar insufficiency, venous congestion, with scar formation and ingrowth of calcaneovalgus, pes valgo planus, and lymphedema (Figure 2,B).14 ectoderm. The mechanism may, in congenital hip dislocation, and con- Finger involvement may result in fact, represent a composite of these genital vertical talus.20,21 Clubfoot de- acrosyndactyly, which is character- theories. formity associated with ABS is often ized by a constriction ring around The incidence of ABS has been re- more challenging to treat than its id- adjacent digits, with distal soft- ported at 1:1,200 births, with equal iopathic counterpart because of rigid tissue webbing and epithelial sinus expression in males and females.5 No equinovarus deformity and frequent tracts at the base of the proximal autosomal inheritance pattern has deep distal circumferential banding phalanx (Figure 3). Complete digit been identified, nor has a connection of the skin and soft tissue.22 Other separation proximal to the band is been made to any infectious agent.1,16 anomalies, such as cleft lip, cleft pal- common15 (Figure 3, A). The mecha- Some studies have shown a racial ate, hemangioma, meningoceles, ab- nism of acrosyndactyly is not fully predisposition, but these findings dominal wall defects, and skin tags understood, but several theories may be influenced by selection or re- have been noted to occur in associa- have been postulated. Some investi- ferral bias rather than evidence of a tion with ABS.13 Associated hand gators have suggested that early true predisposition.17-19 An associa- anomalies include syndactyly, acro- bands block programmed
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