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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 chromosomal abnormalities associated with fetal megacystis which is useful for genetic counseling and fetal therapy at prenatal diagnosis of fetal megacystis.
Topics: Pregnancy; Infant, Newborn; Female; Humans; Diabetes, Gestational; Fetal Macrosomia; Abnormalities, Multiple; Chromosome Aberrations; Urinary Bladder; Duodenum; Fetal Diseases
PubMed: 38216262
DOI: 10.1016/j.tjog.2023.11.006 -
Diagnostics (Basel, Switzerland) Dec 2023This is a case of a fetus affected by an amniotic band detected at 20 weeks of gestation. A presumptive diagnosis was made based on the ultrasound features. The...
This is a case of a fetus affected by an amniotic band detected at 20 weeks of gestation. A presumptive diagnosis was made based on the ultrasound features. The ultrasound showed an abnormally developed right lower limb and no other associated fetal abnormalities. The unilaterality of the defect decreases the chances of genetic abnormality or an early vascular insult. The postnatal examination of the newborn concluded that the prenatal diagnosis was right.
PubMed: 38201342
DOI: 10.3390/diagnostics14010034 -
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 -
Ulusal Travma Ve Acil Cerrahi Dergisi =... May 2023Ichthyosis is caused by Mendelian cornification disorders. Hereditary ichthyoses are divided into non-syndromic and syndromic ichthy-oses. 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.
Topics: Male; Pregnancy; Infant, Newborn; Female; Humans; Amniotic Band Syndrome; Ichthyosis; Skin; Prenatal Diagnosis; Fingers
PubMed: 37145046
DOI: 10.14744/tjtes.2022.34663 -
Journal of Orthopaedic Case Reports Dec 2022The term Streeter's syndrome is a term used to describe rare congenital malformations that includes a variety of clinical presentations usually consisting of a...
INTRODUCTION
The term Streeter's syndrome is a term used to describe rare congenital malformations that includes a variety of clinical presentations usually consisting of a constriction band around a part of the body which can be as superficial as involving just the skin which can be only cosmetic and asymptomatic or can be as deep as causing restricted circulation distally which may be in incompatible with life. Such conditions are remarkably rare accounting for an incidence range from 1:1.2 k to 1: 15 k live births and 178:10 k spontaneous abortions [1]. Males and females are uniformly affected. Almost all cases are sporadic; extremely rare evidence of familial transmission. The entity has been described in the literature in 34 different terms, (such as amniotic rupture sequence, ADAM complex, constriction band syndrome, Streeter's dysplasia, etc.) due to its extremely variable clinical features and lack of understanding of the etiology. This results in a lack of understanding and creates unnecessary stress for the surgeon/physician as well as the parents.
CASE REPORT
We discuss case reports of two such cases with their simple nature of treatment with their outcomes.
CONCLUSION
There is a significant deficit in the education of cases with low incidence, such is the case with pediatric patients presenting with amniotic bands, which usually present and are associated with Congenital Talipes Equino Varus deformity. In such cases, improper or incorrect treatment and/or neglect of the constriction may lead to the vascular deficit and eventually auto-amputation of the segment distal to the amniotic band.
PubMed: 37056605
DOI: 10.13107/jocr.2022.v12.i12.3460 -
American Journal of Obstetrics and... May 2023Green-stained amniotic fluid, often referred to as meconium-stained amniotic fluid, is present in 5% to 20% of patients in labor and is considered an obstetric hazard.... (Review)
Review
Green-stained amniotic fluid, often referred to as meconium-stained amniotic fluid, is present in 5% to 20% of patients in labor and is considered an obstetric hazard. The condition has been attributed to the passage of fetal colonic content (meconium), intraamniotic bleeding with the presence of heme catabolic products, or both. The frequency of green-stained amniotic fluid increases as a function of gestational age, reaching approximately 27% in post-term gestation. Green-stained amniotic fluid during labor has been associated with fetal acidemia (umbilical artery pH <7.00), neonatal respiratory distress, and seizures as well as cerebral palsy. Hypoxia is widely considered a mechanism responsible for fetal defecation and meconium-stained amniotic fluid; however, most fetuses with meconium-stained amniotic fluid do not have fetal acidemia. Intraamniotic infection/inflammation has emerged as an important factor in meconium-stained amniotic fluid in term and preterm gestations, as patients with these conditions have a higher rate of clinical chorioamnionitis and neonatal sepsis. The precise mechanisms linking intraamniotic inflammation to green-stained amniotic fluid have not been determined, but the effects of oxidative stress in heme catabolism have been implicated. Two randomized clinical trials suggest that antibiotic administration decreases the rate of clinical chorioamnionitis in patients with meconium-stained amniotic fluid. A serious complication of meconium-stained amniotic fluid is meconium aspiration syndrome. This condition develops in 5% of cases presenting with meconium-stained amniotic fluid and is a severe complication typical of term newborns. Meconium aspiration syndrome is attributed to the mechanical and chemical effects of aspirated meconium coupled with local and systemic fetal inflammation. Routine naso/oropharyngeal suctioning and tracheal intubation in cases of meconium-stained amniotic fluid have not been shown to be beneficial and are no longer recommended in obstetrical practice. A systematic review of randomized controlled trials suggested that amnioinfusion may decrease the rate of meconium aspiration syndrome. Histologic examination of the fetal membranes for meconium has been invoked in medical legal litigation to time the occurrence of fetal injury. However, inferences have been largely based on the results of in vitro experiments, and extrapolation of such findings to the clinical setting warrants caution. Fetal defecation throughout gestation appears to be a physiologic phenomenon based on ultrasound as well as in observations in animals.
Topics: Infant, Newborn; Pregnancy; Female; Humans; Meconium Aspiration Syndrome; Meconium; Amniotic Fluid; Chorioamnionitis; Pregnancy Complications; Inflammation; Heme
PubMed: 37012128
DOI: 10.1016/j.ajog.2022.11.1283 -
Annals of Medicine and Surgery (2012) Mar 2023Amniotic band syndrome (ABS) refers to fibrous bands that appear to entangle various fetal parts in utero, leading to deformation, malformation, or disruption. To...
UNLABELLED
Amniotic band syndrome (ABS) refers to fibrous bands that appear to entangle various fetal parts in utero, leading to deformation, malformation, or disruption. To alleviate implementation of this diverse malformation, an early diagnosis on ultrasound is necessary to explain to the patient, thus, avoiding psychological shock and requiring timely intervention.
CASE PRESENTATION
In the present case report, the authors describe a case of ABS that was diagnosed at the time of delivery at full term. Although the male newborn was alive, the infant underwent the distal deformity of amputated limbs and clubfoot. He has currently been followed up for the reconstruction treatment.
CLINICAL DISCUSSION
ABS remains a challenging diagnosis for obstetricians following the onset timepoint. A prenatal ultrasound scan is carefully required to detect the morphologic abnormalities of the fetus. Postnatal management should be integrated by a multidisciplinary team in order to improve the infant's outcome.
CONCLUSION
ABS is an extremely dangerous entity during pregnancy, which leads to poor outcomes for the infant. An early detection on ultrasound helps in preparing better for the acceptance of the mother and the family as well as the prognosis afterwards.
PubMed: 37008177
DOI: 10.1097/MS9.0000000000000263 -
Plastic and Reconstructive Surgery.... Mar 2023Preparing a good amputation stump with a well-padded, stable, sensate, and painless soft tissue coverage is of utmost importance to achieve early ambulation and return...
Preparing a good amputation stump with a well-padded, stable, sensate, and painless soft tissue coverage is of utmost importance to achieve early ambulation and return the patient to the daily activity level. When the primary closure is impossible or fails to achieve a good closure, secondary closure must be considered. To date, no literature reported the use of bilobed flaps for stump defect closure. We aimed to utilize this technically easy procedure for better management of defect closure on amputated limb stumps that often cause complex clinical problems. This is a retrospective observational study in limb amputation patients with various etiologies: crush injury, chronic limb necrosis, and amniotic band syndrome. All patients had stump defect closure with bilobed flap and were observed with a minimum of 6-months follow-up to evaluate the wound healing, the use of prosthesis, and the complications. A bilobed flap was performed in 11 amputation cases as the final closure (64% trans-femoral, 18% trans-tibial, 9% trans-humeral, and 9% trans-radial). The mean follow-up time was 8.5 ± 2.21 months. Most of the patients healed uneventfully with the optimal use of prosthesis in a mean healing time of 29.64 ± 7.49 days. The bilobed flap potentially provides a good amputation stump coverage that is ideal for prosthesis fitting. This simple procedure can be done without the necessity of special microsurgery settings. Thus, when the neighboring tissue is available and mobile enough to be transposed to the stump defect, a bilobed flap can be considered.
PubMed: 36936467
DOI: 10.1097/GOX.0000000000004884 -
Genes Dec 2022In 2018, a new clinical subtype, caused by biallelic variants in the gene, encoding the ACLP protein, was added to the current nosological classification of the...
In 2018, a new clinical subtype, caused by biallelic variants in the gene, encoding the ACLP protein, was added to the current nosological classification of the Ehlers-Danlos Syndromes (EDS). This new phenotype, provisionally termed EDS classical-like type 2 (clEDS2), has not yet been fully characterized, as only nine cases have been reported to date. Here we describe a patient, homozygous for a novel pathogenic variant (NM_001129.5 c.2123_2124delTG (p.Val708AlafsTer5)), whose phenotype is reminiscent of classical EDS but also includes previously unreported multiple congenital malformations. Furthermore, we briefly summarize the current principal clinical manifestations of clEDS2 and the molecular evidence surrounding the role of in the context of extracellular matrix homeostasis and connective tissue development. Although a different coexisting etiology for the multiple congenital malformations of our patient cannot be formally excluded, the emerging role of ACLP in TGF-β and WNT pathways may explain their occurrence and the phenotypical variability of clEDS2.
Topics: Humans; Mutation; Ehlers-Danlos Syndrome; Extracellular Matrix; Phenotype; Homozygote; Carboxypeptidases; Repressor Proteins
PubMed: 36553625
DOI: 10.3390/genes13122358