Amniotic Band Syndrome

(1)

42 Amniotic band syndrome occurs in one of every 5000 to 15,000 births and had been demonstrated in 1–2% of mal- formed infants.

GENETICS/BASIC DEFECTS

1. Streeter intrinsic theory

a. An intrinsic defect of the subcutaneous germ plasm causes soft tissue to slough. The resulting external healing leads to the constriction ring

b. Significant rate of associated anomalies as indirect proof of existence of some genetic force at work to cause the syndrome

2. Torpin extrinsic theory (currently most popular theory) a. Early amniotic rupture leading to the formation of

mesodermal fibrous strands that entangle limbs and appendages

b. Amnion rupture without injury to the chorion result- ing in amniotic bands

c. Oligohydramnios playing a major role in the develop- ment of the constricting bands

d. Higher incidence of club feet possibly resulting from continuous pressure on the feet from the undersized uterus

e. Amniotic bands essentially encircling the affected part resulting in constricting rings

f. Supporting evidence

i. Constriction rings often occurring in a straight line across multiple digits as if one external band affects multiple adjacent digits

ii. Frequent involvement of the central digits iii. Occasional attachment of amnion in the con-

stricting ring

iv. Facial clef ting which does not follow develop- mental planes

3. Other theory: simultaneous occurrence of both extrinsic and intrinsic factors in the development of constriction band syndrome

4. Other factors/mechanisms implicated in the etiology of amniotic band syndrome: The cause of amniotic band syndrome remains elusive and controversial

a. Simple oligohydramnios b. Fetal hypertension c. Venous stasis

d. Localized fetal ischemia caused by uterine contractions e. Intrauterine hemorrhage as the precipitating event

f. Vascular compromise (lack of distal blood flow demonstrated in association with forearm amputation defects)

g. Cocaine drug abuse: cocaine acting as a teratogen by inducing fetal hypoxemia through impaired uteropla- cental fetal blood flow and directly through its vaso- constrictive properties on the fetal vasculature

h. Incompetent cervix

i. Amniocentesis implicated. An increased incidence of anomalies related to amniotic band syndrome in asso- ciation with prenatal amniocentesis in animal models j. Familial occurrences reported despite no evidence for a genetic predisposition to amniotic band syndrome 5. Synonyms and acronyms

a. Congenital band syndrome b. Streeter’s dysplasia c. Simonart’s bands

d. Amniotic band disruption complex e. Congenital annular defects

f. Congenital ring constrictions g. Constriction ring syndrome

h. ADAM (Amniotic Deformity, Adhesion, Mutilations) complex

i. TEARS (The Early Amnion Rupture Spectrum)

CLINICAL FEATURES

1. The nature and severity of deformities: related to the tim- ing and initiating event of amniotic rupture

2. Triad of amniotic band syndrome a. Amnion-denuded placenta

b. Fetal attachment or entanglement by amniotic rem- nants

c. Fetal deformation, malformation, and/or disruption i. Fetal deformation (fetal compression secondary

to oligohydramnios; fetal entanglement by amni- otic bands)

ii. Fetal malformation resulting from amniotic band interfering with the normal sequence of embry- ologic development

iii. Fetal disruption secondary to cleavage of struc- tures that have already developed normally 3. Craniofacial disruptions (up to one third of cases)

a. Facial clefting

i. Most likely associated with swallowing of band at about 5 months of gestation

ii. Unusual extensions with asymmetric locations, such as oblique facial clefting

b. Orbital defects i. Anophthalmos ii. Microphthalmos iii. Enophthalmos

iv. Hypertelorism c. Corneal abnormalities

i. Anomalous eyelid configuration ii. Ineffective eye closure

d. Other ocular abnormalities

i. Strabismus due to defects in extraocular muscles ii. Epiphora related to either lacrimal system

involvement or eyelid abnormalities

(2)

e. CNS involvement: usually associated with amniotic band rupture before 45 days of gestation

i. Neural tube defects (cranioschisis, atypical or asymmetrical meningocele, myelomeningocele, encephalocele, or anencephaly)

ii. Ventriculomegaly

iii. Pressure defects of the parenchyma f. Calvarial defects

g. Cleft lip/palate 4. Limb abnormalities

a. Limb reduction defects b. Intrauterine amputations

c. Ring constrictions with or without distal lym- phedema, clubbing, or syndactyly

i. Deeper rings

ii. Circumferential rings d. Club feet

e. Digital anomalies: frequently involved i. Syndactyly

ii. Acrosyndactyly iii. Digital hypoplasia

iv. Symphalangism v. Symbrachydactyly vi. Camptodactyly

f. Significant neurovascular impairment distal to the constricting band

5. Umbilical cord strangulation by amniotic bands a. Common occurrence (10%)

b. Cord strangulation

c. Severe strangulation of the umbilical cord may result in fetal death

d. Stillbirths observed in about 97% of umbilical cord strangulation by amniotic bands

6. Associated anomalies a. Hemangiomas b. Cardiac defect

c. Limb/body wall defects d. Thoracoabdominal wall defects

i. Thoracoschisis ii. Extrathoracic heart iii. Omphalocele

iv. Gastroschisis e. Aplasia cutis

f. Short umbilical cord g. Oligohydramnios sequence

7. Patterson’s classification system of congenital ring con- striction based on the severity of the syndrome

a. Simple constriction rings

b. Constriction rings associated with deformity of the distal part, with or without lymphedema

c. Constriction rings associated with soft tissue fusions of distal parts (acrosyndactyly)

d. Intrauterine amputation

8. Hall’s classification system for amniotic band syndrome a. Mild constriction without lymphedema

b. Moderate constriction with lymphedema c. Severe constriction with amputation

9. Weinzweig’s classification system for amniotic band syn- drome

a. Mild constriction without lymphedema

b. Moderate constriction with distal deformity, syn- dactyly, or discontinuous neurovascular or musculo- tendinous structures without vascular compromise

i. Without lymphedema ii. With lymphedema

c. Severe constriction with progressive lymphaticovenous or arterial compromise

i. Without soft-tissue loss ii. With soft-tissue loss d. Intrauterine amputation

10. Lockwood’s classification of fetal anomalies in amniotic band syndrome according to their presumed mechanism a. Anomalies caused by interruption of embryonic mor-

phogenesis

i. Cleft lip and palate ii. Omphalocele iii. Cardiac anomalies

iv. Renal agenesis or dysplasia v. Bladder exstrophy

vi. Imperforate anus

b. Anomalies caused by fetal vascular compromise i. Gastroschisis

ii. Gallbladder agenesis iii. Single umbilical artery

c. Anomalies caused by intrauterine constraint i. Club foot

ii. Clubbed hands iii. Abnormal facies

iv. Valgus-varus deformities v. Kyphoscoliosis

d. Anomalies caused by disruption of normally devel- oped structures

i. Severe central nervous system or calvarial defect ii. Acrosyndacytly

iii. Amputations iv. Constriction bands

v. Facial clefts (anatomically inappropriate) vi. Aplasia cutis

11. Prognosis

a. Prenatally diagnosed amniotic adhesion with a grim prognosis

b. Most cases of cranial and body wall defects incom- patible with extrauterine life

c. Infants born with limited limb abnormalities: better prognosis with good results after surgical repair of the constrictions or syndactyly

DIAGNOSTIC INVESTIGATIONS

1. Radiography

a. Syndactyly with amputation of distal parts b. Intrauterine amputation of limbs and digits 2. MRI imagings

a. Delineate the depth of the constriction band b. Delineate the extent of the resultant lymphedema c. Delineate the integrity of the musculature

d. Define the vascular anatomy, which may be anomalous;

may help to prevent injury to the vessels during surgery

(3)

3. Histology

a. Absence of amniotic membrane on the fetal surface of the chorionic sac, including the placental sac b. Presence of amnion remnant as a cuff of thick

membrane at the base of the umbilical cord at its insertion site

c. Amniotic squames and cellular debris are frequently embedded in the superficial soft tissue of the chorion indicating chronic amniotic rupture

d. Constricting bands encircling digits

GENETIC COUNSELING

1. Recurrence risk

a. Patient’s sib: not increased b. Patient’s offspring: not increased

2. Prenatal diagnosis possible by ultrasonography during second and third trimester

a. Visualization of amniotic sheets or bands attached to the fetus. The diagnosis of amniotic band syndrome should not be made solely on the basis of a membrane observed in the uterine cavity

b. Restricted fetal movement

c. Characteristic asymmetric fetal anomalies d. Constriction bands around the limbs 3. Management

a. Surgery not needed for shallow constriction bands that are not circumferential and without distal swelling b. Distal edema or impairment of neurovascular func-

tion requiring staged constriction band excision, Z- plasty, or W-plasty

c. Digital amputation may be required for a ring so con- strictive that distal edema is massive

d. Multiple plastic surgical procedures required for cor- rections of the complex craniofacial abnormalities e. Procedures for the upper-extremity deformities

i. Band release, Z- or W-plasty ii. Syndactyly/web space release iii. Skin graft

iv. Stump revision v. Osteotomy/osteoclasis vi. Hardware removal

vii. Ray resection/transposition viii. Distraction osteogenesis

ix. Pollicization/osteocutaneous transfer x. Tendon transfer

xi. Excision supernumerary digit xii. Amputation

f. Procedures for the lower-extremity deformities i. Band release, Z- or W-plasty

ii. Syndactyly release iii. Simple revision

iv. Amputation/excision toe v. Clubfoot procedure vi. Hip procedure vii. Tibial derotation viii. Removal of skin tag

g. Careful follow-up on congenital constriction band of the trunk because the evolution of this condition is benign

h. In utero surgical intervention proposed to avoid amputation or permanent damage to the extremity of the fetus, provided the maternal and fetal risks of sur- gery are small

REFERENCES

Al-Qattan MM: Classification of the pattern of intrauterine amputations of the upper limb in constriction ring syndrome. Ann Plast Surg 44:626–632, 2000.

Askin G, Ger E: Congenital constriction band syndrome. J Pediatr Orthop 8:461–466, 1988.

Bagatin M, Der Sarkissian R, Larrabee WF Jr: Craniofacial manifestations of the amniotic band syndrome. Otolaryngol Head Neck Surg 116:525–528, 1997.

Bahadoran P, Lacour JP, Terrisse A, et al.: Congenital constriction band of the trunk. Pediatr Dermatol 14:470–472, 1997.

Baker CJ, Rudolph AJ: Congenital ring constrictions and intrauterine amputations. Am J Dis Child 121:393–400, 1971.

Bourne MH, Klassen RA: Congenital annular constricting bands: Review of the literature and a case report. J Pediatr Orthop 7:218–221, 1987.

Burton DJ, Filly RA: Sonographic diagnosis of the amniotic band syndrome.

Am J Roentgenol 156:555–558, 1991.

Chen H, Gonzalez E: Amniotic band sequence and its neurocutaneous manifestations. Am J Med Genet 28:661–673, 1987.

Day-Salvatore DL, Guzman E, Weinberger B, et al.: Genetics casebook.

Amniotic band disruption sequence. J Perinatol 15:74–77, 1995.

De Pablo A, Calb I, Jaimovich L: Congenital constriction bands: Amniotic band syndrome J Am Acad Dermatol 32:528–529, 1995.

Eppley BL, David L, Li M, et al.: Amniotic band facies. J Craniofac Surg 9:360–365, 1998.

Foulkes GD, Reinker K: Congenital constriction band syndrome: a seventy- year experience. J Pediatr Orthop 14:242–248, 1994.

Garza A, Cordero JF, Mulinare J: Epidemiology of the early amnion rupture spectrum (TEARS) of defects. Am J Dis Child 142:541–544, 1988.

Hall EJ, Johnson-Giebina R, Vascones LO: Management of the ring constriction syndrome: a reappraisal. Plast Reconst Surg 69:532–536, 1982.

Higginbottom MC, Jones KL, Hall BD, et al.: The amniotic band disruption complex: timing of amniotic rupture and variable spectra of consequent defects. J Pediatr 95:544–549, 1979.

Heifitz SA: Strangulation of the umbilical cord by amniotic bands: Report of 6 cases and literature review. Pediatr Pathol 2:285–304, 1984.

Hollsten DA, Katowitz JA: The ophthalmic manifestations and treatment of the amniotic band syndrome. Ophthal Plast Reconstr Surg 6:1–15, 1990.

Keller H, Neuhauser G, Durkin-Stamm MV, et al.: “ADAM complex” (amniotic deformity, adhesions, mutilations)-a pattern of craniofacial and limb defects. Am J Med Genet 2:81–98, 1978.

Kino Y: Clinical and experimental studies of the congenital constriction band syndrome, with an emphasis on its etiology. J Bone Joint Surg Am 57:636, 1975.

Laberge LC, Rszkowski A, Morin F: Amniotic band attachment to a fetal limb:

demonstration with real-time sonography. Ann Plast Surg 35:316–319, 1995.

Laor T, Jaramillo D, Hoffer FA, et al.: MR imaging in congenital lower limb deficiencies. Pediatr Radiol 26:381–387, 1996.

Levy PA: Amniotic bands. Pediatr Rev 19:249, 1998.

Light TR, Ogden JA: Congenital constriction band syndrome. Pathophysiology and treatment. Yale J Biol Med 66:143–155, 1993.

Lockwood C, Ghidini A, Romero R, et al.: Amniotic band syndrome:

Reevaluation of its pathogenesis. Am J Obstet Gynecol 160:1030–1033, 1989.

Lubinsky M, Sujansky E, Sanders W, et al.: Familial amniotic bands. Am J Med Genet 14:81–87, 1983.

Mahony BS, Filly RA, Callen PW, et al.: The amniotic band syndrome: ante- natal sonographic diagnosis and potential pitfalls. Am J Obstet Gynecol 152:63–68, 1985.

Mishima K, Sugahara T, Mori Y, et al.: Three cases of oblique facial cleft. J Cranio-Maxillofac Surg 24:372–377, 1996.

Moerman P, Fryns JP, Vandenberghe L, et al.: Constrictive amniotic bands, amniotic adhesions, and limb body wall complex, discrete disruption sequence with pathogenic overlap. Am J Med Genet 42:470–479, 1992.

(4)

Nishi T, Nakano R: Amniotic band syndrome: Serial ultrasonographic observa- tions in the first trimester. J Clin Ultrasound 22:275–278, 1994.

Ossipoff V, Hall BD: Etiologic factors in the amniotic band syndrome: a study of 24 patients. Birth Defects Orig Artic Ser 13:117–132, 1977.

Patterson TJS: Congenital ring constrictions. Br J Plast Surg 14:1–31, 1961.

Quintero RA, Morales WJ, Phillips J, et al.: In utero lysis of amniotic bands.

Ultrasound Obstet Gynecol 10:316–320, 1997.

Seidman JD, Abbondanzo SL, Watkins WG, et al.: Amniotic band syndrome.

Arch Pathol Lab Med 113:891–897, 1989.

Streeter GL: Focal deficiencies in fetal tissues and their relationship to intrauterine amputation. Contributions to Embryology of the Carnegie Institute 22:1–44, 1930.

Takayuki M: Congenital constriction band syndrome. J Hand Surg Am 9:82, 1984.

Temtamy SA, McKusick VA: Digital and other malformations associated with congenital ring constrictions. Birth Defects 14:547, 1978.

Torpin R: Amniochorionic mesoblastic fibrous strings and amniotic bands;

associated constricting fetal malformations or fetal death. Am J Obstet Gynecol 91:65–75, 1965.

Torpin R: Intrauterine amputation with the missing member found in the fetal membranes. JAMA 198:205–207, 1966.

Trasler DG: Congenital malformations produced by amniotic sac puncture.

Science 124:439, 1988.

Walter JH Jr, Goss LR, Lazzara AT: Amniotic band syndrome. J Foot Ankle Surg 37:325–333, 1998.

Weinzweig N: Constriction band-induced vascular compromise of the foot:

classification and management of the “intermediate” stage of constriction-ring syndrome. Plast Reconstr Surg 96:972–977, 1995.

Yamaguchi M, Yasuda H, Kuroki T, et al.: Early prenatal diagnosis of amniotic band syndrome. Am J Perinatol 5:5–7, 1988.

Yang SS: ADAM sequence and innocent amniotic band: Manifestations of early amnion rupture. Am J Med Genet 37:562–568, 1990.

(5)

Fig. 1. A small stillborn fetus (110 gm) showing amniotic constriction band at left ankle. Amputation and pseudosyndactyly of fingers and toes are present.

Fig. 2. A small stillborn fetus (60gm) with a fibrous amniotic band constricting a portion of the head and facial cleft.

Fig. 3. A small fetus with a large amniotic band which caused anen- cephaly.

(6)

Fig. 4. The left hand of a 1–100 gm fetus showing in utero amputa- tion of the 3rd and 4th fingers.

Fig. 5. A placenta with a long strand of amniotic band which was pulled out of the mouth of the premature neonate at birth. The baby did not have amniotic band syndrome.

Fig. 6. Cord strangulation by amniotic band.

Fig. 7. A fetus with a large meningoencephalocele and an amniotic band attaching to its base. Facial defects, a large gastroschisis, and tal- ipes equinovarus were also present. Histology of the scalp shows an amniotic band fused with the soft tissue of the upper dermis. The amniotic epithelium of the band is visible as a darker line on the surface.

The epidermis of the scalp is denuded at the site of band attachment.

(7)

Fig. 8. A fetus with marked craniofacial defects and the site of amni- otic band attachment at the base of the skull. The fetus also had amputation of the distal left great toe (not shown). Prenatal ultrasonography showed a complex structures arising from the top and front of the craniofacial region.

Fig. 9. An infant with marked craniofacial anomalies, a constricting ring of a finger with distal lymphedema, and an amputation of the 5th finger.

Fig. 10. An infant with club left hand with a missing finger, constrict- ing rings with marked distal lymphedema of the right index finger, and pseudosyndactyly of the right foot.

(8)

Fig. 11. An infant with deep constricting groove around the lower one- third of both legs. The patient also had terminal amputation and constriction rings of fingers with a small amniotic band still attached to the constricting ring of the second finger (not shown).

Fig. 12. A hand of an infant with constriction bands of the fingers with amputations, shown by the radiograph.