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Amniotic constriction band syndrome resulting in amputation caused by septate uterus: a case report.The Journal of International Medical... Sep 2020Amniotic band syndrome is an unusual congenital condition characterized by manifestations of disfigurement and disablement. Patients with this condition may experience...
Amniotic band syndrome is an unusual congenital condition characterized by manifestations of disfigurement and disablement. Patients with this condition may experience an array of clinical deformities, including constriction rings, digital defects, and even visceral defects. Although this disease has been identified for centuries, its etiology is still unknown. The present male patient was born by cesarean section at 34 weeks and 4 days of gestation. At birth, an amniotic band that encircled and constricted his right upper limb was observed. Four hours after the amniotic band was cut off, amputation was performed because the right limb remained insensate. The patient suffered from amniotic band syndrome and presented with a gangrenous limb leading to amputation at birth, which is extremely rare. Moreover, the patient's mother suffered from a uterine septum, which has not been previously reported in this situation. Timely surgical treatment avoided further tissue necrosis threating the patient's life. This rare case of amniotic band syndrome provides new clinical evidence for the "extrinsic theory".
Topics: Amniotic Band Syndrome; Amputation, Surgical; Cesarean Section; Constriction; Female; Humans; Infant, Newborn; Male; Pregnancy; Uterus
PubMed: 32954908
DOI: 10.1177/0300060520949755 -
Archivos Argentinos de Pediatria Oct 2020Amniotic band syndrome consists in a group of congenital abnormalities caused by strands of the amniotic sac that entangle some parts of the fetus. Those strands result...
Amniotic band syndrome consists in a group of congenital abnormalities caused by strands of the amniotic sac that entangle some parts of the fetus. Those strands result from premature rupture of amnios. The incidence of amniotic band syndrome is 1:1200 to 1:15,000 live births, depending on case studies. Mostly affected parts of fetus are limbs (asymmetric amputations, syndactyly and clubbed foot) but facial and thoracoabdominal abnormalities have also been described. Recent works have proved the utility of Ponseti method to treat clubfoot associated with amniotic band syndrome. We report the case of a newborn with amniotic band syndrome focusing on management and surgical repair of limbs deformities. Especially, we highlight the use of Ponseti method in treatment of syndromic clubfoot.
Topics: Amniotic Band Syndrome; Clubfoot; Female; Humans; Infant, Newborn; Male; Pregnancy; Syndactyly; Young Adult
PubMed: 32924406
DOI: 10.5546/aap.2020.e486 -
Molecular Genetics & Genomic Medicine Oct 2020Precise diagnosis and classification of CBWA cases can be challenging. BSA are considered when there is a body wall anomaly, skeletal abnormalities, and the umbilical...
BACKGROUND
Precise diagnosis and classification of CBWA cases can be challenging. BSA are considered when there is a body wall anomaly, skeletal abnormalities, and the umbilical cord is anomalous, absent or rudimentary, and LBWC when there is a body wall and structural limb anomalies with or without craniofacial abnormalities.
METHODS
PubMed was searched for body stalk anomalies, limb body wall complex, body stalk anomalies and amniotic band syndrome, and limb body wall complex and amniotic band syndrome. Sixty nine articles were selected and reviewed. This article systematically classifies the variants of CBWA in 218 cases, the study is based on the embryological and anatomical criteria established by Martín-Alguacil and Avedillo to study BSA in the pig.
RESULTS
Eight different BSA presentation were defined. One hundred and eighty nine cases were classified as BSA, from which five were Type I, nine Type II, 20 Type III, 57 Type IV, 11Type V, 24 Type VI, 11 Type VII, and 52 Type VIII. Twenty six cases presented cranial phenotype, 114 abdominal phenotype, 42 cranio/abdominal overlapping phenotype, and five without defined phenotype. In addition, 52 BSA cases presented some kind of spinal dysraphism (SPDYS) and were classified as BSA/SPDYS, most of these cases did not show structural limb anomalies, except for three cases and were classified as LBWC/SPDYS.
CONCLUSION
This morphology-based classification represents a useful tool for clinical diagnosis, it helps to quantify and to evaluate CBWA in a precise, objective manner.
Topics: Abdomen; Congenital Abnormalities; Embryonic Development; Humans; Phenotype; Skull
PubMed: 32856427
DOI: 10.1002/mgg3.1465 -
The Pan African Medical Journal 2020
PubMed: 32774645
DOI: 10.11604/pamj.2020.36.86.20345 -
Acta Medica (Hradec Kralove) 2020Pierre Robin sequence (PRS) is characterized by the triad of retrognathia, glossoptosis, and airway obstruction. PRS may occur in isolation or in conjunction with other... (Review)
Review
Pierre Robin sequence (PRS) is characterized by the triad of retrognathia, glossoptosis, and airway obstruction. PRS may occur in isolation or in conjunction with other syndromes. Distinguishing isolated and syndromic forms of PRS helps clinicians decide the management plan. We describe two cases of PRS of Indian ethnicity and describe some of the difficulties that we faced while distinguishing isolated PRS from syndromic PRS. Both cases had a similar clinical presentation. However, one of the cases had a positive family history of congenital deafness and cleft palate, whereas the other case had apparent upper limb anomalies. These facts heightened the suspicion of an associated syndrome. However, based on the available facts and after thorough investigations, a tentative diagnosis of isolated PRS was made for both the patients. Both the cases were managed conservatively and were advised a long-term follow-up. When the associated anomalies are few, minor or concealed at birth, longitudinal follow-up of all PRS cases combined with thorough diagnostics including chromosomal analysis could help differentiate syndromic PRS from isolated PRS. Regardless, all cases of PRS require a multidisciplinary approach.
Topics: Humans; Infant; Infant, Newborn; Male; Pierre Robin Syndrome; Prone Position; Respiratory Insufficiency
PubMed: 32771075
DOI: 10.14712/18059694.2020.23 -
[3D-printed hand prostheses function in adolescents with congenital hand amputation: A case series].Revista Chilena de Pediatria Jun 2020To describe the effect of the 3D-printed Cyborg Beast prosthesis on upper limbs function in adolescents with congenital hand amputation.
OBJECTIVE
To describe the effect of the 3D-printed Cyborg Beast prosthesis on upper limbs function in adolescents with congenital hand amputation.
CLINICAL CASES
Five patients aged between 12 and 17 years, with congenital hand amputation were selected. All patients were from the Teletón Institute in Santiago, Chile. The patients were trained for prosthesis use in four sessions. Hand function was evaluated without prosthesis, at 1 and 4 months of use with the modified Bilan 400 points scale, and upper limb function perception was evaluated with the 'Upper Extremity Functional Index (UEFI)'. At 1 month and 4 months of use, the percentage change for hand functionality for the unaffected limbs was between -11% and -4%; and -9% and -2% for the affected limb. The percentage change for the upper limbs perceived function was -62%.
CONCLUSIONS
The use of the 3D-printed Cyborg Beast prosthesis was not a functional solution for the 5 patients included in this study. Future research is needed to improve the functionality of these types of 3D-printed hand prostheses.
Topics: Adolescent; Amniotic Band Syndrome; Artificial Limbs; Child; Female; Hand; Hand Deformities, Congenital; Humans; Male; Printing, Three-Dimensional; Recovery of Function; Treatment Outcome
PubMed: 32730523
DOI: 10.32641/rchped.v91i3.1415 -
Birth Defects Research Aug 2020Amniotic band syndrome (ABS) includes limb deficiencies accompanied by fibrous strands originating from the amniotic lining. Terminal transverse limb deficiencies (TTLD)...
INTRODUCTION
Amniotic band syndrome (ABS) includes limb deficiencies accompanied by fibrous strands originating from the amniotic lining. Terminal transverse limb deficiencies (TTLD) appear to be similar but lack fibrous strands. Both are hypothesized to result from vascular disruption. For ABS, limb deficiencies are considered secondary to amnion rupture. We explored an alternative possibility-that TTLD is the primary defect and ABS is secondary.
METHODS
Using data from the National Birth Defects Prevention Study, we expanded on a previous study. We examined smoking, alcohol, and medications categorized by indicated vasoactivity as markers of vascular disruption. Logistic regression models with Firth's penalized likelihood were used to estimate adjusted odds ratios (aORs) and 95% confidence intervals (CIs).
RESULTS
Use of bronchodilators and aspirin appeared to increase the risk of ABS, while decongestants and nonaspirin NSAIDs increased the risk of TTLD. The risk of ABS was markedly increased in cases reporting combinations of vasoactive exposures, particularly alcohol and aspirin (aOR 3.7, 95% CI 1.6, 7.8), and alcohol and bronchodilators (aOR 3.4, 95% CI 1.4, 7.5). Increased risk of TTLD due to combinations of vasoactive exposures was only observed for smoking and decongestants (aOR 2.3, 95% CI 1.4, 3.6).
CONCLUSIONS
Exposures associated with increased risk of ABS had no apparent association with TTLD, supporting previous evidence that these may be distinct phenotypes. ABS appears to be associated with combined exposures with vasodilation properties, such as alcohol and bronchodilators, while increased risk of TTLD may be associated with smoking and decongestants, both vasoconstrictive exposures.
Topics: Amniotic Band Syndrome; Humans; Infant, Newborn; Odds Ratio; Smoking
PubMed: 32573119
DOI: 10.1002/bdr2.1740 -
American Journal of Obstetrics and... Oct 2020Postprocedural amniotic band disruption sequence is a condition that is associated with intrauterine interventions, and it is characterized by a constriction of the...
Prevalence, risk factors, and outcome of postprocedural amniotic band disruption sequence after fetoscopic laser surgery in twin-twin transfusion syndrome: a large single-center case series.
BACKGROUND
Postprocedural amniotic band disruption sequence is a condition that is associated with intrauterine interventions, and it is characterized by a constriction of the limbs or umbilical cord by fibrous strands, leading to edema, amputation, and/or fetal demise.
OBJECTIVE
To evaluate the prevalence of, risk factors for, and the outcome of postprocedural amniotic band disruption sequence after fetoscopic laser surgery in twin-twin transfusion syndrome cases.
STUDY DESIGN
All consecutive cases of twin-twin transfusion syndrome treated with fetoscopic laser coagulation of the vascular anastomoses at our center between January 2002 and March 2019 were included in the study. The occurrence of postprocedural amniotic band disruption sequence in these cases was recorded, and the potential risk factors were analyzed.
RESULTS
Postprocedural amniotic band disruption sequence was detected, at birth, in 2.2% (15/672) of twin-twin transfusion syndrome cases treated with fetoscopic laser surgery, in both the recipients (10/15, 67%) and the donors (5/15, 33%). Postprocedural amniotic band disruption sequence primarily affected the lower extremities (11/15, 73%) and, less frequently, the upper extremities (2/15, 13%), both the upper and lower extremities (1/15, 7%), or the umbilical cord (1/15, 7%). Postprocedural amniotic band disruption sequence led to the amputation of toes in 5 of 15 cases (33%) and resulted in fetal demise because of constriction of the umbilical cord in 1 case (7%). The independent risk factors identified for postprocedural amniotic band disruption sequence were lower gestational age at laser surgery (odds ratio per week, 1.43; 95% confidence interval, 1.12-1.79; P=.003) and the presence of postprocedural chorioamniotic membrane separation on antenatal ultrasound examination (odds ratio, 41.66; 95% confidence interval, 5.44-319.25; P<.001).
CONCLUSION
The prevalence of postprocedural amniotic band disruption sequence is low, but, when present, it may lead to severe consequences, with amputation of extremities or fetal demise occurring in more than one-third of the cases. Lower gestational age at the time of laser therapy and chorioamniotic membrane separation are independent risk factors for the postprocedural amniotic band disruption sequence.
Topics: Amnion; Amniotic Band Syndrome; Chorion; Female; Fetal Death; Fetofetal Transfusion; Fetoscopy; Gestational Age; Humans; Iatrogenic Disease; Laser Therapy; Lower Extremity; Postoperative Complications; Pregnancy; Prevalence; Risk Factors; Umbilical Cord; Upper Extremity
PubMed: 32335054
DOI: 10.1016/j.ajog.2020.04.016 -
BMJ Case Reports Mar 2020
Topics: Amniotic Band Syndrome; Cleft Palate; Encephalocele; Female; Humans; Hydrocephalus; Infant, Newborn
PubMed: 32234859
DOI: 10.1136/bcr-2020-234735 -
BMJ Case Reports Mar 2020Amniotic band sequence (ABS) is common birth defect of incompletely understood origin. Here we describe a case of ABS in a child with paternally inherited Ehlers-Danlos...
Amniotic band sequence (ABS) is common birth defect of incompletely understood origin. Here we describe a case of ABS in a child with paternally inherited Ehlers-Danlos syndrome, vascular type (vEDS). This is the third reported instance of ABS associated with paternally inherited vEDS in the medical literature. The two main theories of ABS formation are the extrinsic and intrinsic. The extrinsic theory states that placental tears form fibrous cords that wrap around the fetus; the intrinsic states that poor vascularisation in the fetus leads to necrosis of distal extremities. We believe this case supports extrinsic theory as it shows that as an amnion weakened by vEDS in fetal components is associated with ABS.
Topics: Amniotic Band Syndrome; Diagnosis, Differential; Ehlers-Danlos Syndrome; Foot Deformities, Congenital; Hand Deformities, Congenital; Humans; Infant; Male
PubMed: 32209574
DOI: 10.1136/bcr-2019-232020