Rawal Medical Journal An official publication of Pakistan Medical Association Rawalpindi Islamabad branch Established 1975 Volume 36 Number 2 March- June 2011 Case Report Amniotic band syndrome; a case report Osama T. Abu-Salah Neonatal Unit, King Hussein Medical Center, Amman, Jordan ABSTRACT We describe a Jordanian infant with congenital malformations with multiple bands of various organs. (Rawal Med J 2011;36:159-162). Key words Amniotic bands, cleft lip, cleft palate, hypertelorism. INTRODUCTION Amniotic band syndrome is a sporadic constellation of congenital malformations with varying clinical presentation that ranges from mild localized limb lymphedema to severe lethal malformations such as anencephaly. Between these extremes, various organs can be affected, most commonly the fingers and toes. 1 Amniotic bands attach to body parts and cause disruption in their formation and development. We report a case of a Jordanian neonate with cleft lip and palate as well as amputations in the fingers and toes. CASE PRESENTATION The baby was a male infant born at 34 weeks gestation. His mother was a healthy 20 years old primigravida and pregnancy was uncomplicated. There was no radiation or drug exposure and or an infection during pregnancy. The family history was negative to similar conditions and there was no consanguinity. Routine antenatal investigations were normal. Fig 1. Cleft lip and palate with low set ears and deformed nose.
Examination showed a weight of 2200 grams and head circumference of 33cm and length of 48 cm. He had cleft lip and palate, abnormal nose, low set ears as well as hypertelorism (Fig 1). Fig 2. Left hand showing amputations and amniotic band is visible encircling the distal part of the ring finger. There is localized lymph edema of the index finger. The right hand had normal thumb but digit II had constriction band at the base and lymph edema distally. Digit III was amputated from the level of the proximal interphalyngeal joint. Digit IV shows a tourniquet like amniotic band wrapped around the finger at the level of the distal interphalyngeal joint with distal gangrenous discoloration and swelling. The fifth digit was unaffected (Fig 2). Fig 3. Both hands showing visible amniotic bands, swelling, edema and ischemic changes. The left hand showed that digits III, IV and V were affected. There was an amniotic band visible, encircling digit III with distal rudimentary phalanx. The other digits show amputation distally (Fig 3). Fig 4. Both feet showing amputations of various toes of varying degree.
In both feet, there are amputations affecting the toes. In the right foot, all toes are affected, again with amputation, visible amniotic band and lymph edema of the unamputated first toe. The left first toe was completely amputated. There are amputations in the distal toes II and III. Toes IV and V are not affected (Fig 4). DISCUSSION The amniotic band syndrome (ABS) has a reported incidence of 1 in 10000 to 450000 births, with incidence among abortions of as high as 178:10.000. 2 The visualization of the amniotic band is considered diagnostic of ABS. This precludes the need for further etiological investigations, such as karyotying and genetic studies. 3 There is negative family history of similar conditions in this case. This is consistent with previous report of the sporadic nature of this condition in most cases. 2 However, association with family history of Ehlers Danols 4 and epidermilosis bullosa 5 was noted in previous reports. Rare reports of autosomal familial ABS cases are found in the literature. 6 There are various theories attempting to explain the pathogenesis of ABS. The most popular is the amniotic disruption (exogenous) theory proposed by Torpin in 1965. 7,8 in this theory, Tropin suggested that once the amnion is ruptured, the fetus lies outside the amniotic cavity and bands extending from the chorionic side of the cavity entrap various parts of the fetus and disturb normal development. 8 The severity depends upon the period of gestation during which the bands develop, 9 especially when accompanied with oligohydramnios. 10 The second popular theory is the embryonic dysplasia (endogenous) theory which was proposed in 1930 by Streeter. 11 He suggested that abnormal histogenesis causes fetal disruption leading to defective tissue which later sloughs and its healing resulting in constricting rings. Patterson study of skin creases made him to suggest that amniotic bands are abnormal creases because of the histological similarities between creases and amniotic bands. 12 In the vascular disruption theory, proposed by van Allen, 13 congenital malformations are a result of vascular insults. The most frequent organs involved in ABS are the fingers and toes, with or without association with cleft lip and palate. 14 Feet abnormalities such as club feet and fingers abnormalities such as syndactyly, cranial, cardiac, abdominal wall defect and abdominal organs extrophy, chest wall defect with heart extrophy are reported. 10,15 Etiological associations have been reported with abdominal trauma, intrauterine devices, cerclage
and chorionic villous sampling. 5,16 However, none is confirmed. It is possible to diagnose ABS antenatally with antenatal ultrasounds but minor defects are unlikely to be diagnosed. 7 In conclusion, ABS is sporadic condition without agreeable etiology and pathogenesis. It has a wide spectrum of clinical most are mild and involving the limbs but severe abnormalities may be present and can be lethal. Received: December 28, 2010 Accepted: February 7, 2011 REFERENCES 1. Fiedler JM, Phelan JP. The amniotic band syndrome in monozygotic twins. Am J Obstet Gynecol 1983;14:863-4. 2. Foulkes GD, Reinker K. Congenital construction and band syndrome: a seventyyear experience. J Pediatr Orthop 1994;14:242-8. 3. Burton DJ, Filly RA. Sonographic diagnosis of the amniotic band syndrome. AJR 1991;156:555-8. 4. Burk CJ, Aber C, Connelly EA. Ehlers-Danlos syndrome type IV: keloidal plaques of the lower extremities, amniotic band limb deformity, and a new mutation. J Am Acad Dermatol 2007;56(2 Suppl):S53-S54. 5. Dyer JA, Chamlin S. Acquired Raised Bands of Infancy: Association with Amniotic Bands. Pediatr Dermatol 2005;22 (4):346-9. 6. Etches PC, Stewart AR, Ives EJ. Familial congenital amputations. J Pediatr 1982;101:448-9. 7. Pedersen TK, Thomsen SG. Spontaneous Resolution of Amniotic Bands. Ultrasound Obstet Gynecol 2001;18:673-4. 8. Torpin R. Amniochorionic fibrous strings and amniotic bands. Am J Obstet Gynecol 1965;91:65-75. 9. Higginbottom MC, Jones KL, Hall BD, Smith DW. The amniotic band disruption complex: timing of amniotic rupture and variable spectra of consequent defects. J Pediatr 1979;95:544-9. 10. Halder A Amniotic band syndrome and/or limb body wall complex: split or lump Applic Clin Genet 2010;3:7-15. 11. Streeter GL. Focal deficiencies in fetal tissues and their relation to intra-uterine amputation. Contrib Embryol 1930;22:1-44. 12. Patterson TJ. Congenital ring-constrictions. Br J Plast Surg 1961;14:1-31. 13. Van allen MI. Fetal vascular disruptions: mechanisms and some resulting birth defects. Paediatr Annzales 1981;10:219-33. 14. Jabor MA, Cronin ED. Bilateral cleft lip and palate and limb deformities: a presentation of amniotic band sequence? J Craniofac Surg 2000;11:388-93. 15. Poeuf B, Samson P, Magalon G. Amniotic band syndrome. Chir Main 2008;27(Suppl 1):S136-47. 16. Torpin R, Knoblich RR. Fetal malformations of amniogenic origin. J Med Assoc Ga 1969;58:126-7.