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Seminars in Plastic Surgery Nov 2023Upper extremity congenital anomalies in the newborn are second only to congenital heart anomalies. Some of the more commonly encountered upper extremity anomalies are... (Review)
Review
Upper extremity congenital anomalies in the newborn are second only to congenital heart anomalies. Some of the more commonly encountered upper extremity anomalies are trigger thumb, thumb hypoplasia, polydactyly, syndactyly, and amniotic band syndrome. While some conditions occur in isolation, others are known to commonly occur in association with syndromes. Familiarity with these conditions is important not only to provide adequate evaluation and workup of these patients but also to deliver appropriate surgical intervention and prepare parents with appropriate expectations. In this article, we outline the etiology, classification, surgical management, and outcomes of these five commonly encountered upper extremity congenital anomalies.
PubMed: 38098681
DOI: 10.1055/s-0043-1777096 -
Eye (London, England) Mar 2024The amniotic membrane is a single epithelial layer of the placenta. It has anti-inflammatory, anti-scarring, anti-angiogenic and possibly bactericidal properties. The... (Review)
Review
The amniotic membrane is a single epithelial layer of the placenta. It has anti-inflammatory, anti-scarring, anti-angiogenic and possibly bactericidal properties. The basement membrane of the amniotic membrane acts as a substrate to encourage healing and re-epithelialisation. It has been used in many ocular surface diseases including persistent epithelial defects (corneal or conjunctival), chemical or thermal burns, limbal stem cell deficiency, cicatrising conjunctivitis, ocular graft versus host disease, microbial keratitis, corneal perforation, bullous keratopathy, dry eye disease, corneal haze following refractive surgery and cross-linking, band keratopathy, ocular surface neoplasia, pterygium surgery, and ligneous conjunctivitis. This review provides an up-to-date overview of amniotic membrane transplantation including the structural and biological properties, preparation and application, clinical indications, and commercially available products.
Topics: Female; Pregnancy; Humans; Amnion; Eye Diseases; Cornea; Conjunctivitis; Corneal Dystrophies, Hereditary; Corneal Diseases
PubMed: 37875701
DOI: 10.1038/s41433-023-02777-5 -
The Cleft Palate-craniofacial Journal :... Aug 2023Cases of severe bilateral Tessier 4 cleft with unilateral Tessier 3 cleft and additional involvement of the amniotic band syndrome are rarer. This case reports a very...
Cases of severe bilateral Tessier 4 cleft with unilateral Tessier 3 cleft and additional involvement of the amniotic band syndrome are rarer. This case reports a very rare case of ABS with severe facial cleft. Postoperative progress was satisfactory and the patient achieved functional recovery. The patient underwent several miner reconstructive surgeries and appropriate surgical treatment is necessary to restore the patient's social life.
PubMed: 37654054
DOI: 10.1177/10556656231199648 -
Clinical Case Reports Aug 2023Amniotic band sequence (ABS) should be on the differential for newborns with limb defects. ABS is diagnosable prenatally with prenatal ultrasound; however, there are...
KEY CLINICAL MESSAGE
Amniotic band sequence (ABS) should be on the differential for newborns with limb defects. ABS is diagnosable prenatally with prenatal ultrasound; however, there are cases where the diagnosis of ABS is made only after delivery of the newborn.
ABSTRACT
Amniotic band sequence (ABS) is an uncommon congenital disorder where strands of amniotic tissue cause entrapment of the limbs, body wall, and viscera leading to an array of congenital malformations. We report a case of a newborn with prenatally undiagnosed amniotic band sequence.
PubMed: 37621726
DOI: 10.1002/ccr3.7655 -
Ugeskrift For Laeger Jul 2023Constrictive amniotic band syndrome (CABS) is a rare condition which occurs sporadically and should not be compared with a syndrome as it is known from genetics.... (Review)
Review
Constrictive amniotic band syndrome (CABS) is a rare condition which occurs sporadically and should not be compared with a syndrome as it is known from genetics. However, since the pathogenesis is not yet fully understood, some theories suggest genetics playing a role. Even though CABS is rare it is associated with a high risk of foetal death as seen in 1/70 of these cases. The diagnostics start with ultrasound of the pregnant woman, and if this leads to suspicion of CABS it is possible to supplement with 3D ultrasound or MRI to verify. The treatment involves either in utero or postnatal surgery depending on the case, as argued in this review.
Topics: Pregnancy; Female; Infant, Newborn; Humans; Amniotic Band Syndrome; Fetal Death; Ultrasonography; Constriction, Pathologic
PubMed: 37539797
DOI: No ID Found -
Journal of Maxillofacial and Oral... Sep 2023Oral and maxillofacial surgery deals with wide range of oral defects, wound closure, tissue resection, and tissue reconstruction. The purpose of our study is to use...
BACKGROUND
Oral and maxillofacial surgery deals with wide range of oral defects, wound closure, tissue resection, and tissue reconstruction. The purpose of our study is to use amniotic membrane for closure of post surgery defect in patient of oral submucous fibrosis to utilize its growth factor and scaffold nature for effective healing and to evaluate effectiveness of amniotic membrane in treatment outcome. The objectives are to compare post-operative mouth opening, healing of amniotic membrane and buccal fat pad.
MATERIAL AND METHOD
Diagnosed patients with OSMF are divided into two surgical site Group I ( = 5patients)-Left side buccal mucosa in which resection of fibrous band with coronoidectomy followed by reconstruction of the mucosal defect with BFP. Group II-Right side buccal mucosa in which resection of fibrous band with coronoidectomy followed by reconstruction of the mucosal defect with freeze dried irradiated amniotic membrane.
RESULT
This study suggested that in comparison to buccal fat pad flap, the HAM graft is a better option for oral reconstruction in terms of infection, graft failure, MMO, inflammation, pain. Outcome indicated that the HAM is biologically ideal graft for oral wounds and could be used as clinical alternative for various repair surgery for oral defects.
CONCLUSION
The amniotic membrane was found easy to handle and easy to use with inherent hemostatic property which is observed in all patients. No patients had shown any evidence of any complications. Good pain control observed in patients throughout postoperative period.
PubMed: 37534347
DOI: 10.1007/s12663-022-01709-2 -
Plastic and Reconstructive Surgery Aug 2023After studying this article, the participant should be able to: 1. Understand and describe the basic principles underlying the intrinsic versus extrinsic proposed...
LEARNING OBJECTIVES
After studying this article, the participant should be able to: 1. Understand and describe the basic principles underlying the intrinsic versus extrinsic proposed mechanisms for the development of amniotic band syndrome (ABS). 2. Discuss risk factors and conditions that are associated with the development of ABS. 3. Understand the various presentations and associated clinical implications of ABS by anatomic location. 4. Describe the basic tenets underlying various repair technique options for ABS of the extremities. 5. Discuss the common manifestations of ABS in the face and trunk. 6. Understand clinical implications of fetoscopic surgery as it relates to ABS treatment as a novel method for limb salvage in utero.
SUMMARY
Amniotic band syndrome (ABS) refers to the development of constrictive bands of fibrotic tissue in utero. It can lead to a variety of clinical manifestations after delivery. There is much debate in the plastic surgery community regarding the exact pathophysiologic mechanism for the development of ABS, and the most appropriate management. This CME article aims to provide an overview of ABS manifestations throughout the body, and to expound on the most recent advances in anticipatory and definitive management of the condition.
Topics: Infant, Newborn; Pregnancy; Female; Humans; Amniotic Band Syndrome; Fetoscopy; Constriction, Pathologic; Extremities; Toes
PubMed: 37498929
DOI: 10.1097/PRS.0000000000010420 -
Ophthalmic Genetics Dec 2023Cryptophthalmos is a rare congenital condition caused by anomalous eyelid development where the eyelid folds do not develop or fail to separate. Cryptophthalmos can be...
PURPOSE
Cryptophthalmos is a rare congenital condition caused by anomalous eyelid development where the eyelid folds do not develop or fail to separate. Cryptophthalmos can be unilateral or bilateral and can occur in isolation or as part of an underlying syndrome. We aim to identify genetic syndromes associated with cryptophthalmos to facilitate genetic diagnosis.
METHODS
We performed a retrospective medical record review of all patients diagnosed with cryptophthalmos followed at a single center between 2000 and 2020. The analysis included medical history, clinical examination findings, and genetic testing results.
RESULTS
Thirteen patients were included, 10 (77%) males, mean age of 2.4 years. Eight (61%) had bilateral cryptophthalmos, and 4 (31%) had complete cryptophthalmos. Associated ocular abnormalities included corneal opacities (13/13, 100%), upper eyelid colobomas (12/13, 92%), and microphthalmia/clinical anophthalmia (3/13, 23%). All cases of complete cryptophthalmos had bilateral disease. An underlying clinical or molecular diagnosis was identified in 10/13 (77%) cases, including Fraser syndrome ( = 5), amniotic band syndrome ( = 1), -related disease ( = 1), Goldenhar versus Schimmelpenning syndrome ( = 1), MOTA syndrome ( = 1), and -related disease ( = 1).
CONCLUSION
This is the first report of a possible association between cryptophthalmos and biallelic variants. Children with cryptophthalmos, especially those with extra-ocular involvement, should be referred for comprehensive genetic evaluation.
Topics: Infant, Newborn; Child; Male; Humans; Child, Preschool; Female; Microphthalmos; Retrospective Studies; Syndrome; Anophthalmos; Eyelids; Rare Diseases
PubMed: 37493047
DOI: 10.1080/13816810.2023.2237568 -
American Journal of Perinatology May 2024The prenatal diagnosis of chromosomal mosaicism is fraught with uncertainty. Karyotyping, chromosomal microarray analysis (CMA), and fluorescence in situ...
OBJECTIVE
The prenatal diagnosis of chromosomal mosaicism is fraught with uncertainty. Karyotyping, chromosomal microarray analysis (CMA), and fluorescence in situ hybridization (FISH) are three commonly used techniques. In this study, we evaluated these techniques for the prenatal diagnosis of chromosomal mosaicism and its clinical outcome.
STUDY DESIGN
A retrospective review of mosaicism was conducted in 18,369 pregnant women from January 2016 to November 2021. The subjects underwent amniocentesis to obtain amniotic fluid for G-band karyotyping with or without CMA/FISH. Cases diagnosed with chromosomal mosaicism were selected for further analysis.
RESULTS
In total, 101 cases of chromosomal mosaicism were detected in 100 pregnant women (0.54%, 100/18,369). Four were lost during follow-up, 61 opted to terminate their pregnancy, and 35 gave birth to a healthy singleton or twins. Among these 35 cases, postnatal cytogenetic testing was performed on eight and two exhibited mosaicism; however, nothing abnormal was observed in the postnatal phenotype follow-up. Karyotyping identified 96 incidents of chromosomal mosaicism including 13 with level II mosaicism and 83 with level III mosaicism, FISH identified 37 cases of mosaicism, and CMA identified 17. The most common form of chromosomal mosaicism involved monosomy X, of which the mosaic fraction in cultured karyotyping appeared higher or comparable to uncultured FISH/CMA ( < 0.05). Discordant mosaic results were observed in 34 of 101 cases (33.7%), most of which resulted from the detection limit of different techniques and/or the dominant growth of a certain cell line.
CONCLUSION
Based on the postnatal follow-up results from the babies born, we obtained a more hopeful result for the prognosis of chromosomal mosaicism. Although karyotyping was the most sensitive method for detecting chromosomal mosaicism, artifacts and bias resulting from culture should be considered, particularly for sex chromosomal abnormalities involving X monosomy, in which the combination with uncultured FISH was necessary.
KEY POINTS
· Karyotyping combined with uncultured FISH or CMA is beneficial for prenatal diagnosis of chromosomal mosaicism.. · Fetuses without ultrasound structural anomalies with chromosomal mosaicism often have optimistic prognosis..
Topics: Humans; Mosaicism; Female; Amniocentesis; Pregnancy; Retrospective Studies; In Situ Hybridization, Fluorescence; Karyotyping; Adult; Prenatal Diagnosis; Microarray Analysis; Chromosome Disorders
PubMed: 37336233
DOI: 10.1055/s-0043-1770163 -
Child's Nervous System : ChNS :... Aug 2023Amniotic band syndrome (ABS) is a rare congenital disease characterized by a broad spectrum of congenital anomalies resulting from the strangulated developing organ(s)... (Review)
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.
Topics: Female; Humans; Infant; Infant, Newborn; Male; Amniotic Band Syndrome; Central Nervous System Neoplasms; Cleft Palate; Encephalocele; Facial Bones; Meningocele; Neoplasms, Second Primary; Neurosurgeons
PubMed: 37266681
DOI: 10.1007/s00381-023-06008-w