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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 -
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 -
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 -
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 -
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 -
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 -
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 -
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 -
Ophthalmic Plastic and Reconstructive...Amniotic bands can lead to eyelid colobomas contiguous with facial clefts, resulting in severe and highly variable eyelid malformations. There is no known underlying...
Amniotic bands can lead to eyelid colobomas contiguous with facial clefts, resulting in severe and highly variable eyelid malformations. There is no known underlying genetic cause of amniotic band sequence. Here, the authors review the case of an infant born with large, 4-eyelid colobomatous defects in the setting of facial clefts, amniotic bands and an underlying SMOC1 mutation, which has not previously been linked to amniotic band sequence or eyelid colobomas. Reconstructive technique and the postoperative course are described, and underlying etiologic theories of amniotic band sequence are reviewed and expanded upon. Although amblyopia prevention in this patient with poor visual potential was not a consideration, the goals of improving the patient's ocular surface and maintaining eye contact were achieved.
Topics: Infant; Infant, Newborn; Humans; Amniotic Band Syndrome; Coloboma; Eyelid Diseases; Eyelids
PubMed: 36893073
DOI: 10.1097/IOP.0000000000002374