Presentation and multidisciplinary management of a unique case of lower limb dysmelia resulting from amniotic band syndrome.

A neonate was born with a unique congenital lower limb dysmelia due to an abnormal presentation of amniotic band syndrome. An anomalous soft tissue tether from the plantar surface of the right foot to the right buttock caused extreme knee flexion, tibial rotation and malformation of the developing foot. This complex malformation required a multidisciplinary team (MDT) approach to decide between reconstruction and amputation. The band of tissue was released operatively at 73 days postdelivery, improving knee extension, and the tissue was banked on the thigh as a tube pedicle for future reconstruction. The patient underwent rehabilitation, which has been shown to be vital for synovial joint formation. At 18 months old, the decision was made to proceed with through-knee amputation and a prosthesis. The literature discussed shows the importance of an MDT approach in complex lower limb cases to give the best functional outcome for the patient.

Amniotic band syndrome with CNS involvement: a pediatric neurosurgeon's dilemma-a case series and literature review.

BACKGROUND: Amniotic band syndrome (ABS) is a rare congenital disease characterized by a broad spectrum of congenital anomalies resulting from the strangulated developing organ(s) by the detached fibrous amniotic band. The prevalence of CNS involvement in ABS is rare, but the mortality rate in these cases is high, while morbidity among the surviving patients is inevitable. CASE REPORT: Three-month-old male, 9-month-old female, and newborn female babies were presented with head lump(s), severe facial cleft, syndactyly, and finger amputation. The patient's head imaging confirmed meningoencephalocele as the cause of the head lump in 2 patients; meanwhile, a porencephalic cyst was identified as the origin of head lumps in the other patient. VP shunt placement surgery was performed as the initial management in 2 patients, while one patient directly underwent meningoencephalocele resection surgery. Craniofacial and limb reconstructions were planned as the follow-up management in all cases. Unfortunately, one patient died of complications from suspected aspiration, while another never returned for follow-up treatment. CONCLUSION: Here, we report 3 ABS cases with CNS involvement. Despite the severe disfigurement and disability, the inexistence of fatal malformation might lead to long-term survival. The treatment of malformation(s) that might predispose to another fatal condition and surgery(-ies) to improve functional outcomes and patient's social acceptability should be prioritized in managing the surviving ABS patients.

Emergency approach in a rare congenital coexistence-ichthyosis and amniotic band syndrome.

Ichthyosis is caused by Mendelian cornification disorders. Hereditary ichthyoses are divided into non-syndromic and syndromic ichthy-oses. Amniotic band syndrome involves congenital anomalies that most frequently cause hand and leg rings. The bands can wrap around the developing body parts. In this study, it is aimed to present an emergency approach to amniotic band syndrome accompanying a case of congenital ichthyosis. We were asked by the neonatal intensive care unit to consult on the case of a 1-day-old baby boy. On physical examination, congenital bands were found to be present on both hands, the toes were rudimentary, skin scaling was present on the entire body, and the consistency of the skin was stiff. The right testicle was not in the scrotum. Other system examinations were normal. However, the blood circulation in the fingers in the distal of the band had become critical. With the help of sedation, the bands on the fingers were excised, and after the procedure, it was observed that the circulation in the fingers was more relaxed than it had been before the procedure. Coexistence of congenital ichthyosis and amniotic band is very rare. Emergency approach to these patients is very important in terms of saving the limb and preventing growth retardation in the limb. As further developments take place in terms of prenatal diagnoses, these cases will be able to be prevented through the early diagnosis and treatment.

A 5-month-old girl with amniotic band syndrome.

A 5-month-old girl presented with bilateral upper and lower eyelid cicatricial ectropion with right eye exposure keratopathy and bilateral lateral canthal defects. Physical examination revealed a constriction band over the temporal area of the head and nasal bridge; she was diagnosed with congenital amniotic band syndrome (ABS). Upper and lower eyelid reconstruction procedures were performed along with lateral canthal reconstruction to salvage the remaining left eye. Congenital ABS is a rare disorder. Most cases of ocular ABS are associated with limb deformities due to constriction defects and blood flow restrictions. Our patient presented solely with ocular and periocular deformities.

Severe Eyelid Malformation With Facial Clefting and Amniotic Bands.

Amniotic bands can lead to eyelid colobomas contiguous with facial clefts, resulting in severe and highly variable eyelid malformations. There is no known underlying genetic cause of amniotic band sequence. Here, the authors review the case of an infant born with large, 4-eyelid colobomatous defects in the setting of facial clefts, amniotic bands and an underlying SMOC1 mutation, which has not previously been linked to amniotic band sequence or eyelid colobomas. Reconstructive technique and the postoperative course are described, and underlying etiologic theories of amniotic band sequence are reviewed and expanded upon. Although amblyopia prevention in this patient with poor visual potential was not a consideration, the goals of improving the patient's ocular surface and maintaining eye contact were achieved.

Amniotic band syndrome and limb body wall complex in Europe 1980-2019.

Amniotic band syndrome (ABS) and limb body wall complex (LBWC) have an overlapping phenotype of multiple congenital anomalies and their etiology is unknown. We aimed to determine the prevalence of ABS and LBWC in Europe from 1980 to 2019 and to describe the spectrum of congenital anomalies. In addition, we investigated maternal age and multiple birth as possible risk factors for the occurrence of ABS and LBWC. We used data from the European surveillance of congenital anomalies (EUROCAT) network including data from 30 registries over 1980-2019. We included all pregnancy outcomes, including live births, stillbirths, and terminations of pregnancy for fetal anomalies. ABS and LBWC cases were extracted from the central EUROCAT database using coding information responses from the registries. In total, 866 ABS cases and 451 LBWC cases were included in this study. The mean prevalence was 0.53/10,000 births for ABS and 0.34/10,000 births for LBWC during the 40 years. Prevalence of both ABS and LBWC was lower in the 1980s and higher in the United Kingdom. Limb anomalies and neural tube defects were commonly seen in ABS, whereas in LBWC abdominal and thoracic wall defects and limb anomalies were most prevalent. Twinning was confirmed as a risk factor for both ABS and LBWC. This study includes the largest cohort of ABS and LBWC cases ever reported over a large time period using standardized EUROCAT data. Prevalence, clinical characteristics, and the phenotypic spectrum are described, and twinning is confirmed as a risk factor.

Fetoscopic surgery for amniotic band syndrome: Case series.

We aimed to evaluate the fetoscopic procedure indications, procedure-related complications, and neonatal outcomes in cases diagnosed with amniotic band syndrome (ABS). Stage II and III cases according to Hüsler classification were included for fetoscopic surgery. Scissors were used to release the amniotic band in six cases, and a diode laser was used in one case. A single entry was made in all cases. The majority of the children acquired a functional limb (71.4%). Fetal morbidity was mainly linked to the consequences of preterm premature rupture of the membranes (57.1%) and preterm birth (28.5%). Excluding complicated cases, fetoscopic band release is encouraging in cases of ABS in the limbs.

Clinical Manifestations of Constriction Band Syndrome.

BACKGROUND: Constriction band syndrome (CBS) is a congenital limb anomaly with varying presentation. We sought to characterize the clinical manifestations of CBS by analyzing a large cohort of patients. Our secondary aim was to evaluate potential risk factors for CBS. METHODS: We retrospectively reviewed the records for all patients with CBS who had presented to our tertiary medical center between 1998 and 2018. Examination by a pediatric orthopaedic surgeon and the presence of pathognomonic features were inclusion criteria. Clinical notes, photographs, and radiographs were reviewed to determine the pattern of limb involvement and associated conditions. Demographic data were compared with population averages to assess for possible risk factors. RESULTS: One hundred and twenty-eight children were included. The most prevalent feature was constriction bands (96%), followed by limb or digit amputations (88%) and syndactyly/acrosyndactyly (69%). Children without constriction bands presented with either acrosyndactyly or growth of an osseous spike from a congenital diaphyseal limb or digit amputation. There was a strong predilection for involvement of central digits of the hands and feet, with sparing of the thumb/great toe and small finger/toe. The average number of involved limbs per child was 2.6; 23% of the children had involvement of only 1 limb. Children with at least 1 additional diagnosis had more limbs affected by CBS than those who were otherwise healthy (2 limbs [interquartile range (IQR), 1-3 limbs] versus 3 limbs [IQR, 2-4 limbs]; p = 0.006), suggesting a more severe phenotype. Children with more limbs involved underwent more surgical procedures (p < 0.001). CBS was associated with gestational trauma, prematurity, low birth weight, young and old maternal age, and higher social deprivation. CONCLUSIONS: Children with CBS can be categorized as having either mild or extensive involvement based on the number of involved limbs and associated conditions. Future investigation of prenatal risk factors is necessary to further elucidate the etiology of this heterogenous condition. LEVEL OF EVIDENCE: Prognostic Level IV. See Instructions for Authors for a complete description of levels of evidence.

Successful Emergent Treatment of Limb-Threatening Amniotic Constriction Band in a Neonate with a 2-year Follow-up: A Case Report.

CASE: A 29-week-old gestational age neonate born by emergent cesarean delivery was found to have a circumferential upper arm amniotic constriction band. Initial removal of the amniotic band at the time of delivery uncovered a circumferential skin band with profound venous obstruction but preserved Doppler arterial flow. Emergent excision of the constricted skin band with fasciotomies of the arm and forearm was performed shortly after birth to preserve the extremity. CONCLUSION: This report outlines a visualized constriction band at the time of delivery causing neurovascular compromise to an extremity of a neonate. Prompt intervention ensued preserving both form and function with an excellent 2-year follow-up.

Media Depiction of Birth Differences of the Upper Extremity: Accuracy of Shared Diagnoses.

BACKGROUND: To assess the diagnostic accuracy of public representation of congenital differences of the upper extremities. We hypothesized that there is an over-diagnosis of certain diagnoses such as amniotic constriction band and under-diagnosis of others such as symbrachydactyly and radial deficiency. METHODS: Publicly shared images and associated diagnoses were searched on publicly available news media and social media accounts published from October 2018 through November 2021 using key terms such as "amniotic band syndrome," "congenital arm amputation," and "3D prosthetic arm" as well as The Lucky Fin Project account on Instagram. The images were collected and reviewed by 2 congenital hand surgeons. The surgeons' diagnoses were then compared to the reported diagnoses associated with each image to assess accuracy. RESULTS: A total of 100 images were collected with the reported diagnosis associated with each image. Two images were removed due to evidence of prior surgery. The hand surgeons' diagnosis disagreed with the reported diagnosis in 60 of 98 (61%) images. Of those 60 inaccurate diagnoses, 2/3 were reported as amniotic constriction band. CONCLUSIONS: Media and social media depictions of congenital upper extremity differences are frequently inaccurate, and our search demonstrated that the amniotic constriction band is the most commonly reported, inaccurate diagnosis. Accuracy of diagnosis in public media is important given the impact a diagnosis has on those viewing and sharing the images. LEVEL OF EVIDENCE: Level IV, diagnostic.

Disseminated intravascular coagulation complicated by amniotic band syndrome associated with deceased fetal umbilical cord following fetoscopic laser surgery.

Fetoscopic laser surgery occasionally causes amniotic band syndrome, in which the disrupted amniotic membrane constricts fetal body parts, leading to functional or morphological loss. We report a case of fetal distress at 31 weeks of gestation in the larger surviving twin after fetoscopic laser surgery for selective intrauterine growth restriction, necessitating emergent cesarean section. Physical examination of the infant showed constriction rings caused by a disrupted amniotic membrane on the digits, and the distal part of the right index finger was necrotic because of tight strangulation by an amniotic band with the umbilical cord of the deceased smaller twin. Laboratory data showed severe coagulopathy, and the infant was diagnosed with disseminated intravascular coagulation (DIC). Immediate treatment improved his condition. DIC may have been associated with the necrotic finger, which was strangulated by the umbilical cord of the deceased fetus, because neither maternal coagulopathy nor an underlying neonatal disorder was detected.

A new phenotype of amniotic band syndrome with occipital encephalocele-like morphology: a case report.

Amniotic band syndrome (ABS) is a congenital abnormality that can cause a variety of deformities. Here, we report a case of ABS in which the amniotic band adhered to the skull, causing a partial cranial defect that was difficult to differentiate from an occipital encephalocele. The mother was a 24-year-old with an unremarkable medical and family history. Ultrasonography performed at 16 weeks showed that the fetus had a membranous structure in the occipital region. Occipital encephalocele was suspected, and she underwent cesarean section at 38 weeks. A male newborn was delivered, and his left occipital skin had a defect measuring 2 cm, from which a cystic structure had prolapsed. Cranial magnetic resonance imaging showed that the cystic structure had homogeneous high signal intensity on T2-weighted images. The neonate then underwent repair of the occipital encephalocele. During the operation, the membranous structures and dura were not continuous. Histological examination revealed that the membranous structures were composed of amnion, suggesting that this was a case of ABS. ABS may present with an encephalocele-like morphology without affecting the brain tissue and meninges. If an atypical encephalocele is found after birth, examination of the placenta may be helpful for a definitive diagnosis.

Early Surgical Intervention in Amniotic Band Sequence for Upper Extremity Motor Nerve Palsies: A Case Report.

Urgent surgical intervention for amniotic band sequence (ABS) is currently indicated for concerns of vascular compromise and progressive lymphedema. Peripheral motor nerve palsies are rare, and reports of surgical intervention in these cases describe persistent motor dysfunction. We report band release and ulnar, median, and radial nerve decompression in a 1-week-old with a severe upper extremity constriction band and signs of ulnar nerve motor dysfunction. A literature review on nerve exploration and outcomes of patients with motor nerve palsy from ABS was performed. Early evidence of ulnar motor function was observed at 5.5-month follow-up. Previous reports of nerve decompression for upper extremity constriction bands with motor nerve palsy document poor recovery after interventions beginning at 3 months of age. In this case, band release and nerve decompression were undertaken at 7 days of age, and we observed early motor recovery. This finding suggests that very early surgical intervention in the neonate may facilitate nerve recovery in appropriate candidates.

Amniotic band syndrome in a monochorionic diamniotic twin pregnancy after rupture of the dividing membrane in the early second trimester: A case report.

BACKGROUND: Amniotic band syndrome is a rare phenomenon, but it can result in serious complications. We report herein our experience of amniotic band syndrome in a monochorionic diamniotic twin pregnancy where rupture of the dividing membrane occurred early in the second trimester. CASE PRESENTATION: A 29-year-old nulliparous woman was referred to us for management of her monochorionic diamniotic twin pregnancy at 10 weeks of gestation. When we were unable to identify a dividing membrane at 15 weeks of gestation using two-dimensional ultrasonography, we used three-dimensional ultrasonography to confirm its absence. Both modalities showed that the left arm of baby B was swollen and attached to a membranous structure originating from the placenta at 18 weeks of gestation. Tangled umbilical cords were noted on magnetic resonance imaging at 18 weeks of gestation. Emergency cesarean delivery was performed at 30 weeks of gestation because of the nonreassuring fetal status of baby A. The left arm of baby B had a constrictive ring with a skin defect. Both neonates had an uncomplicated postnatal course and were discharged around 2 months after delivery. CONCLUSIONS: Attention should be paid to the potential for amniotic band syndrome if rupture of the dividing membrane between twins is noted during early gestation.

The Ponseti Method for the Treatment of Clubfeet Associated With Amniotic Band Syndrome: A Single Institution 20-Year Experience.

BACKGROUND: Amniotic band syndrome (ABS) is a congenital disorder resulting in fibrous bands that can cause limb anomalies, amputations, and deformities. Clubfoot has been reported in up to 50% of patients with ABS. The purpose of this study is to compare treatment characteristics and outcomes of clubfoot patients with ABS to those with idiopathic clubfoot treated with the Ponseti method. METHODS: An Institution Review Board (IRB) approved retrospective review of prospectively gathered data was performed at a single pediatric hospital over a 20-year period. Patients with either idiopathic clubfeet or clubfeet associated with concomitant ABS who were <1 year of age and treated by the Ponseti method were included. Initial Dimeglio score, number of casts, need for heel cord tenotomy, recurrence, and need for further surgery were recorded. Outcomes were classified as "good" (plantigrade foot±heel cord tenotomy), "fair" (need for a limited procedure), or "poor" (need for a full posteromedial release). RESULTS: Forty-three clubfeet in 32 patients with ABS, and 320 idiopathic clubfeet in 215 patients were identified. Average age at last follow up was not different between ABS and idiopathic cohorts (7.4 vs. 5.2 y, P=0.233). Average Dimeglio score was lower in the ABS cohort (12.3 vs. 13.7, P=0.006). Recurrence rate was significantly higher in the ABS (62.8%) compared with idiopathic cohort (37.2%) (P=0.001). Clinical outcomes were significantly better in the idiopathic cohort (69.4% "good", 26.9% "fair", 3.8% "poor") compared with the ABS cohort (41.9% "good", 34.9% "fair", and 23.3% "poor") (P<0.001). Within the ABS cohort, no significant differences in clinical outcomes were found based upon location, severity, or presence of an ipsilateral lower extremity band. CONCLUSION: Clubfeet associated with ABS have higher rates of recurrence, a greater need for later surgery, and worse clinical outcomes than idiopathic clubfeet. This information may prove helpful in counseling parents of infants with ABS associated clubfeet. LEVEL OF EVIDENCE: Level III.

Delayed Onset of Osteomyelitis in Fetal Limb Amputation Secondary to Amniotic Band Syndrome: A Case Report.

CASE: We present the case of an infant with an amputation from amniotic band syndrome and no other complications. During the seventh week of life, the infant developed severe pain in the affected limb that was ultimately found to be indicative of osteomyelitis. CONCLUSION: The infant displayed minimal systemic response, and cultures that grew methicillin-sensitive Staphylococcus aureus were needed to confirm the diagnosis. Surgical debridement, stump revision, and oral antibiotic therapy provided definitive treatment for our patient. The reader is encouraged to consider the possibility of osteomyelitis in similar circumstances.

Sinus pericranii-unusual anatomic obstacle to posterior decompression on an amniotic band sequence.

Abnormal venous drainage in patients with craniofacial anomalies is relativity uncommon. Sinus pericranii is a rare vascular malformation characterized by communication between intracranial dural sinuses and extracranial venous drainage systems. The association between sinus pericranii and amniotic band syndrome has not been described. We report on a 7-month-old girl diagnosed with amniotic band sequence who underwent posterior fossa decompression due to intracranial hypertension and Chiari malformation type I. The computed tomography and magnetic resonance identified the connection between the sagittal sinus and the scalp. During the operation, the presence of sinus pericranii was a complicating factor limiting the proper exposure because of the risk of bleeding. Patients with craniofacial anomalies and sinus pericranii present an increased risk of serious surgical complications and consequences from craniofacial surgery, especially from cranioplasty and posterior decompression. Special attention must be paid to abnormal venous drainage, and vascular imaging studies are sometimes required.

Risk Factors and Prevalence of Limb Deficiencies Associated With Amniotic Band Sequence: A Population-based Case-control Study.

BACKGROUND: Limb deficiencies associated with amniotic bands comprise a wide range of congenital anomalies. The association of maternal medication and the risk of amniotic band sequence (ABS) has not yet been addressed. METHODS: This nationwide population-based case-control study used national registers on congenital anomalies, births and induced abortions, cross-linked with information on maternal prescription medicine use obtained from the registers on Reimbursed Drug Purchases and Medical Special Reimbursements. All cases with congenital limb deficiency associated with amniotic bands born between 1996 and 2008 were included in the study. Five controls without limb deficiency matched for residency and time of conception were randomly selected from the Medical Birth Register. RESULTS: In total, 106 children with limb deficiency associated with ABS were identified and compared with 530 matched controls. Young maternal age (less than 25 y) increased the risk of limb deficiencies [odds ratio=1.72; 95% confidence interval (CI): 1.06, 2.80]. Primiparity was also associated with increased risk [adjusted odds ratio (aOR)=2.42; 95% CI: 1.52, 3.88]. After adjusting for maternal age, pregestational diabetes, and parity, maternal use of beta-blockers (adjusted OR=24.2; 95% CI: 2.57, 228) and progestogens (adjusted OR=3.79; 95% CI: 1.38, 10.4) during the first trimester of pregnancy significantly increased the risk of limb deficiencies associated with amniotic bands. CONCLUSIONS: Primiparity significantly increased the risk of limb defects associated with amniotic bands. Also, a novel association on increased risk of ABS with maternal use of progestogens or beta-blockers during the first trimester of pregnancy was observed. LEVEL OF EVIDENCE: Level III.

Amniotic band syndrome associated with limited dorsal myeloschisis: a case report of an unusual case and review of the literature.

Amniotic band syndrome (ABS) has been known since ancient times. Descriptions in modern medicine have occurred since the mid-nineteenth century. The association of the amniotic band syndrome with tethered cord is rare. It was generally thought to be incompatible with life. Of late, with better imaging, there have been case reports of amniotic bands causing cord tethering in neurosurgical literature, but its association with limited dorsal myeloschisis has hitherto not been described. We report a case of amniotic band syndrome (ABS) associated with a cervical limited dorsal myeloschisis (LDM) in a child of 2 and a half years old. The management of LDM in ABS is essentially the same as in isolated cases.

Prenatal diagnosis of truncus arteriosus with interrupted aortic arch and abnormal limbs due to an umbilical cord amniotic band: rare entities with an unusual association.

Truncus arteriosus, interrupted aortic arch and amniotic band syndrome are rare conditions. We report a case of a 38-year-old pregnant woman who was diagnosed on a routine morphological ultrasound scan with a Van Praagh type A4 persistent truncus arteriosus with an aortic arch interruption type B and abnormal limbs (oedematous left hand, hypoplastic fingers on the right hand and right big toe amputation). Elective termination of the pregnancy was carried out and the pathological examination confirmed all the sonographic findings. Furthermore, an amniotic band parallel to the umbilical cord undetected during the ultrasound scans was revealed, and was entangled around the right hand, left wrist and the umbilical cord, causing strangulation. We present the unusual association of these independent pathologies and emphasise the usefulness of fetal autopsy in all cases of pregnancy termination and abnormal ultrasound findings to make the complete diagnosis.