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Acta Ortopedica Mexicana 2024Amniotic band syndrome (ABS) and clubfoot are distinct congenital musculoskeletal conditions that can occasionally co-occur, creating unique challenges in their... (Review)
Review
Amniotic band syndrome (ABS) and clubfoot are distinct congenital musculoskeletal conditions that can occasionally co-occur, creating unique challenges in their management. This paper summarizes the comprehensive discussion on the management of amniotic band syndrome (ABS) and clubfoot, emphasizing the critical role of the Ponseti method and the challenges faced in treatment, thereby providing a basis for further research and improved patient care.
Topics: Clubfoot; Humans; Amniotic Band Syndrome; Infant, Newborn; Infant; Casts, Surgical
PubMed: 38657150
DOI: No ID Found -
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 -
Anales de Pediatria Feb 2024
Topics: Infant, Newborn; Humans; Amniotic Band Syndrome; Abdomen
PubMed: 38278692
DOI: 10.1016/j.anpede.2024.01.005 -
Taiwanese Journal of Obstetrics &... Jan 2024Fetal megacystis has been reported to be associated with chromosomal abnormalities, megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS), obstructive... (Review)
Review
Fetal megacystis has been reported to be associated with chromosomal abnormalities, megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS), obstructive uropathy, prune belly syndrome, cloacal anomalies, limb-body wall complex, amniotic band syndrome, anorectal malformations, VACTERL association (vertebral anomalies, anal atresia, cardiac malformations, tracheo-esophageal fistula, renal anomalies and limb abnormalities) and fetal overgrowth syndrome such as Bechwith-Wiedemann syndrome and Sotos syndrome. This review provides an overview of syndromic and single gene disorders associated with fetal megacystis which is useful for genetic counseling at prenatal diagnosis of fetal megacystis.
Topics: Pregnancy; Infant, Newborn; Female; Humans; Diabetes, Gestational; Fetal Macrosomia; Abnormalities, Multiple; Colon; Fetal Diseases; Urinary Bladder; Intestinal Pseudo-Obstruction; Duodenum
PubMed: 38216263
DOI: 10.1016/j.tjog.2023.11.007 -
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 -
Journal of Obstetrics and Gynaecology... Dec 2023
PubMed: 38143985
DOI: 10.1007/s13224-023-01849-6 -
Molecular Genetics & Genomic Medicine Feb 20244q21 microdeletion syndrome is an emergent non-recurrent genomic disorder characterized by facial dysmorphy, progressive growth retardation, severe intellectual deficit,...
BACKGROUND
4q21 microdeletion syndrome is an emergent non-recurrent genomic disorder characterized by facial dysmorphy, progressive growth retardation, severe intellectual deficit, and absent or severely delayed speech. Deletions occur in clusters along 4q interstitial or terminal regions. 4q chromosomal aberrations are variable in type, size, and breakpoint. Genotype-phenotype correlation is a challenging task. The recurrent antenatal feature associated a posteriori with this syndrome is intrauterine growth retardation. There are very few precise antenatal descriptions of this syndrome.
METHODS
We report here the first antenatal history of one of the largest deletion of this region.
RESULTS
Our case harbored a 16.9 Mb deletion encompassing 135 protein coding genes including 20 OMIM morbid genes involved in neurological and cognitive abilities. Those breakpoints overlap two clusters of described microdeletion syndromes of cytogenetic band 4q13 and 4q21.
CONCLUSION
From the end of the second trimester, set of call signs associated with this syndrome can be completed by: excess of amniotic fluid, mild growth retardation, short long bones, bony anomalies of the extremities, and bulging cheeks. So, emphasis should be placed on the examination of the extremities, and the face during the routine targeted prenatal ultrasound.
Topics: Humans; Female; Pregnancy; Comparative Genomic Hybridization; Chromosome Deletion; Chromosome Disorders; Chromosome Aberrations; Syndrome; Fetal Growth Retardation
PubMed: 38351708
DOI: 10.1002/mgg3.2397 -
BMJ Case Reports Mar 2024A 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...
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.
Topics: Infant, Newborn; Humans; Infant; Amniotic Band Syndrome; Leg; Foot; Knee Joint; Knee
PubMed: 38490707
DOI: 10.1136/bcr-2023-258063 -
European Journal of Obstetrics,... Jun 2024Amniotic banding is a rare condition that can lead to structural limb anomalies, fetal distress and adverse obstetric outcomes. The main hypothesis for its etiology is a... (Review)
Review
BACKGROUND
Amniotic banding is a rare condition that can lead to structural limb anomalies, fetal distress and adverse obstetric outcomes. The main hypothesis for its etiology is a rupture of the amniotic membrane in early pregnancy, with the formation of tightly entangling strands around the fetus. These strands can constrict, incise, and subsequently amputate limb parts, the neck or head. More rarely, the amniotic banding can affect the umbilical cord, leading to fetal distress or potential intra-uterine fetal demise.
OBJECTIVE
We present a unique case of a 26-week pregnant woman who attended a polyclinical consultation due to reduced fetal movements with concerning cardiotocography (CTG) findings. A review of the literature about amniotic banding of the umbilical cord was conducted as well, identifying diagnostic and interventional options for the obstetrician's practice.
STUDY DESIGN
This is a case report, alongside a review of the literature.
RESULTS
The CTG indicated fetal distress, prompting an emergency caesarean section (C-section). Upon delivery, the neonate exhibited signs of amniotic band sequence, with distal phalangeal defects on the right hand and severe constriction of the umbilical cord caused by amniotic strands, the latter precipitating fetal hypoxia. Direct ultrasound diagnosis remains a challenge in the absence of limb amputation, yet indirect signs such as distal limb or umbilical doppler flow abnormalities and distal limb edema may be suggestive of amniotic banding. MRI is proposed as an adjuvant diagnostic tool yet does not present a higher detection rate compared to ultrasound. Fetoscopic surgery to perform lysis of the amniotic strands with favorable outcome has been described in literature.
CONCLUSION
This case presents the first reported survival of an extremely preterm fetus in hypoxic distress as a cause of amniotic banding of the umbilical cord, with a rare degree of incidental timing. Ultrasound diagnosis remains the gold standard. Obstetrical vigilance is warranted, with fetal rescue proven to be feasible.
Topics: Humans; Female; Pregnancy; Amniotic Band Syndrome; Cesarean Section; Adult; Fetal Hypoxia; Infant, Newborn; Cardiotocography; Ultrasonography, Prenatal; Fetal Distress; Umbilical Cord
PubMed: 38616145
DOI: 10.1016/j.ejogrb.2024.04.010 -
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