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American Journal of Obstetrics and... Dec 2019
Topics: Abnormalities, Drug-Induced; Abnormalities, Multiple; Amniocentesis; Amniotic Band Syndrome; Anal Canal; Carpal Bones; Chorionic Villi Sampling; Congenital Bone Marrow Failure Syndromes; Diagnosis, Differential; Esophagus; Fanconi Anemia; Female; Genetic Testing; Heart Defects, Congenital; Heart Septal Defects, Atrial; Humans; Kidney; Limb Deformities, Congenital; Lower Extremity Deformities, Congenital; Microarray Analysis; Pregnancy; Radius; Spine; Thrombocytopenia; Thumb; Trachea; Trisomy 13 Syndrome; Trisomy 18 Syndrome; Ultrasonography, Prenatal; Upper Extremity Deformities, Congenital; Valproic Acid
PubMed: 31787159
DOI: 10.1016/j.ajog.2019.09.024 -
The Journal of Foot and Ankle Surgery :... 2017Constriction of the lower limb by a congenital amniotic band has been proposed to explain the development of pseudoarthrosis of the tibia and fibula. We report a case of...
Constriction of the lower limb by a congenital amniotic band has been proposed to explain the development of pseudoarthrosis of the tibia and fibula. We report a case of amniotic band syndrome in a preterm female infant with pseudoarthrosis of the tibia and fibula. She was born at 29 weeks of gestation with congenital amniotic bands and was noted to have a severely edematous left foot distal to the constricting band with rudimentary digits. The skin was pink and well perfused with palpable pulses. Radiography demonstrated pseudoarthrosis of the tibia and fibula. The limb deformities were managed with splints, positioning, and physiotherapy. She underwent Z-plasty with soft tissue release on the left lower leg on day 7 of life. At 36 weeks of postmenstrual age, a repeat radiograph showed markedly improved growth of the tibia and fibula with mature new bone formation, which avoided the need for further surgical intervention. During the follow-up period, she underwent left Syme's amputation at 18 months. At 29 months of age, the child was able to walk and run without support. The findings from our case confirm the potential for bone growth in patients with amniotic band syndrome, once the constricting band has been released. Simple release of the constriction band with Z-plasty resulted in growth of mature bone, replacing the pseudoarthrosis and, hence, the patient did not require surgical amputation. Thus, one should be cautious when deciding on surgical amputation, even in the presence of pseudoarthrosis, especially in preterm infants. Early limb-preserving surgery with release of the constricting band with an intention to salvage the limb appears appropriate.
PubMed: 28623060
DOI: 10.1053/j.jfas.2017.04.023 -
Critical Care Nursing Clinics of North... Dec 2018Advances made in the last several decades in the care of the fetus and newborn have had a significant impact on morbidity and mortality. Delayed umbilical cord clamping... (Review)
Review
Advances made in the last several decades in the care of the fetus and newborn have had a significant impact on morbidity and mortality. Delayed umbilical cord clamping in the preterm newborn results in fewer transfusions for anemia, decreased intraventricular hemorrhage, and decreased necrotizing enterocolitis. Because of advances made in fetal ultrasound diagnosis and technological advances, fetal surgeries to treat congenital diaphragmatic hernia, myelomeningocele, twin-to-twin transfusion syndrome, fetal lower urinary tract obstructions, amniotic band syndrome, and congenital cystic adenoid malformation or congenital pulmonary airway malformations have improved the quality of life and survival for these patients.
Topics: Blood Transfusion; Constriction; Female; Fetoscopy; Fetus; Humans; Infant, Newborn; Infant, Premature; Infant, Premature, Diseases; Umbilical Cord
PubMed: 30447809
DOI: 10.1016/j.cnc.2018.07.006 -
Radiographics : a Review Publication of... 2018Intrauterine linear echogenicity (ILE) is a common ultrasonographic finding in the gravid uterus and has variable causes and variable maternal and fetal outcomes.... (Review)
Review
Intrauterine linear echogenicity (ILE) is a common ultrasonographic finding in the gravid uterus and has variable causes and variable maternal and fetal outcomes. Correctly categorizing ILE during pregnancy is crucial for guiding surveillance and advanced imaging strategies. Common causes of ILE include membranes in multiple gestations, uterine synechiae with amniotic sheets, and uterine duplication anomalies. Less common causes include circumvallate placenta, chorioamniotic separation, and hemorrhage between membranes. Amniotic band syndrome is a rare but important diagnosis to consider, as it causes severe fetal defects. Imaging findings enable body stalk anomaly, a lethal defect, to be distinguished from amniotic bands, which although destructive are not necessarily lethal. This review describes the key imaging findings used to differentiate the various types of ILE in pregnancy, thus enabling accurate diagnosis and appropriate patient counseling. Online supplemental material is available for this article. RSNA, 2018.
Topics: Amniotic Band Syndrome; Diagnosis, Differential; Female; Fetal Diseases; Humans; Pregnancy; Pregnancy Complications; Pregnancy, Multiple; Ultrasonography, Prenatal; Urogenital Abnormalities; Uterus
PubMed: 29528829
DOI: 10.1148/rg.2018170062 -
The Pan African Medical Journal 2021
Topics: Amniotic Band Syndrome; Clubfoot; Humans; Infant, Newborn
PubMed: 34539965
DOI: 10.11604/pamj.2021.39.169.30215 -
European Journal of Medical Research Feb 2021Clubfeet and constriction band syndrome is a very rare non-idiopathic condition. Treatment is often difficult and the recurrence deformity rate is high. The purpose of...
BACKGROUND
Clubfeet and constriction band syndrome is a very rare non-idiopathic condition. Treatment is often difficult and the recurrence deformity rate is high. The purpose of this study was to assess the effectiveness of Ponseti method in the treatment of congenital constriction band syndrome accompanied by clubfoot deformity and lymphedema.
CASE PRESENTATION
We are presenting an interesting case of bilateral clubfeet and congenital circumferential constriction band syndrome in the lower limb. Ponseti method of correcting the congenital clubfoot deformity was applied. Constriction band release is accomplished by two stages completely excising the fibrous band and multiple two-stage Z-plasties on the right calf.
CONCLUSION
The results of this study indicate that the Ponseti method of gentle, systematic manipulation and weekly cast changes is an effective treatment of non-idiopathic clubfoot distal to congenital amniotic constriction band.
Topics: Abnormalities, Multiple; Amniotic Band Syndrome; Clubfoot; Follow-Up Studies; Humans; Infant, Newborn; Male; Musculoskeletal Manipulations
PubMed: 33593432
DOI: 10.1186/s40001-021-00492-z -
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 -
Journal of Ultrasound in Medicine :... May 2021Amniotic band syndrome is a rare condition. There have been few cases reported of fetoscopic band dissection. The aim of this case series is to report 3 cases of...
Amniotic band syndrome is a rare condition. There have been few cases reported of fetoscopic band dissection. The aim of this case series is to report 3 cases of fetoscopic treatment for amniotic band syndrome, including indication for surgery, technical aspects, complications and outcomes. Fetoscopic treatment was performed respectively at 23 , 26 and 18 weeks' gestation. Two procedures were performed with a laser fiber through a single trocar whereas one surgery was performed with scissors. In conclusion, fetoscopic release of the amniotic bands in case of amniotic band syndrome is feasible with encouraging results in order to prevent amputation and dysfunction of the extremities.
Topics: Amniotic Band Syndrome; Female; Fetofetal Transfusion; Fetoscopy; Gestational Age; Humans; Infant, Newborn; Laser Therapy; Pregnancy
PubMed: 32951245
DOI: 10.1002/jum.15480 -
Congenital Anomalies Jan 2023We aimed to evaluate the fetoscopic procedure indications, procedure-related complications, and neonatal outcomes in cases diagnosed with amniotic band syndrome (ABS)....
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.
Topics: Pregnancy; Female; Child; Infant, Newborn; Humans; Fetoscopy; Amniotic Band Syndrome; Premature Birth; Endoscopy; Fetus
PubMed: 36116114
DOI: 10.1111/cga.12494 -
Clinics in Perinatology Dec 2017Fetal surgery corrects severe congenital anomalies in utero to prevent their severe consequences on fetal development. The significant risk of open fetal operations to... (Review)
Review
Fetal surgery corrects severe congenital anomalies in utero to prevent their severe consequences on fetal development. The significant risk of open fetal operations to the pregnant mother has driven innovation toward minimally invasive procedures that decrease the risks inherent to hysterotomy. In this article, we discuss the basic principles of minimally invasive fetal surgery, the general history of its development, specific conditions and procedures used to treat them, and the future of the field.
Topics: Amniotic Band Syndrome; Blood Transfusion, Intrauterine; Congenital Abnormalities; Female; Fetal Diseases; Fetal Therapies; Fetofetal Transfusion; Fetoscopy; Fetus; Hernias, Diaphragmatic, Congenital; History, 20th Century; History, 21st Century; Humans; Laser Therapy; Meningomyelocele; Minimally Invasive Surgical Procedures; Pregnancy; Surgery, Computer-Assisted; Ultrasonography, Prenatal
PubMed: 29127956
DOI: 10.1016/j.clp.2017.08.001