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Cureus Feb 2024Amniotic band syndrome (ABS) constriction rings in the lower limb are common. Despite this, there is insufficient literature on anatomical abnormalities in the knee...
Arthroscopic Transphyseal ACL Reconstruction With Lateral Extraarticular Tenodesis With Unusual Arthroscopic Meniscal Findings in a Case of an Adolescent Girl Previously Diagnosed With Amniotic Band Syndrome.
Amniotic band syndrome (ABS) constriction rings in the lower limb are common. Despite this, there is insufficient literature on anatomical abnormalities in the knee joints of children with ABS. There is an increasing incidence of paediatric anterior cruciate ligament (ACL) injuries recently. ACL reconstruction in this population has an extra dilemma of sparing the physis to prevent growth disturbances. Treating both these conditions simultaneously is a challenge that is rarely encountered. In our literature review, we found no case such as this. As such a case is being described for the first time, we also found certain meniscal anatomical variations on diagnostic arthroscopy. A 12-year-old adolescent Indian girl presented with an ACL tear in her left leg after a school sports injury. She had a known case of ABS constriction bands in both her lower limbs. Her distal femoral and proximal femoral physis was fused on radiographs, so we went ahead with a transphyseal ACL soft-tissue graft reconstruction. On the diagnostic round, we found an anatomical variation of the menisci, which was previously not described since arthroscopy of the knee in an adolescent kid with ABS has not been published in the literature as of yet. These kinds of clinical presentations can become common in the future as more and more kids with ABS take part in recreational sports. In such a scenario, having knowledge about common anatomical variations in the knee of such syndromic patients is essential. While performing ACL reconstructions in this population, we have to be aware of the risk of growth deformities along with vascular and neurological complications, which are added risks with constriction bands around the lower limb.
PubMed: 38496138
DOI: 10.7759/cureus.54120 -
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 -
Birth Defects Research Feb 2024Gastroschisis is a serious birth defect with midgut prolapse into the amniotic cavity. The objectives of this study were to evaluate the prevalence and time trends of...
BACKGROUND
Gastroschisis is a serious birth defect with midgut prolapse into the amniotic cavity. The objectives of this study were to evaluate the prevalence and time trends of gastroschisis among programs in the International Clearinghouse for Birth Defects Surveillance and Research (ICBDSR), focusing on regional variations and maternal age changes in the population.
METHODS
We analyzed data on births from 1980 to 2017 from 27 ICBDSR member programs, representing 24 countries and three regions (Europe , Latin America, North America). Cases were identified using diagnostic codes (i.e., 756.7, 756.71, or Q79.3). We excluded cases of amniotic band syndrome, limb-body wall defect, and ruptured omphalocele. Programs provided annual counts for gastroschisis cases (live births, stillbirths, and legally permitted pregnancy terminations for fetal anomalies) and source population (live births, stillbirths), by maternal age.
RESULTS
Overall, gastroschisis occurred in 1 of every 3268 births (3.06 per 10,000 births; 95% confidence intervals [CI]: 3.01, 3.11), with marked regional variation. European prevalence was 1.49 (95%CI: 1.44, 1.55), Latin American 3.80 (95%CI: 3.69, 3.92) and North American 4.32 (95%CI: 4.22, 4.42). A statistically significant increasing time trend was observed among six European , four Latin American, and four North American programs. Women <20 years of age had the highest prevalence in all programs except the Slovak Republic.
CONCLUSIONS
Gastroschisis prevalence increased over time in 61% of participating programs, and the highest increase in prevalence was observed among the youngest women. Additional inquiry will help to assess the impact of the changing maternal age proportions in the birth population on gastroschisis prevalence.
Topics: Pregnancy; Infant, Newborn; Female; Humans; Gastroschisis; Prevalence; Stillbirth; Maternal Age; Hernia, Umbilical; Limb Deformities, Congenital
PubMed: 38411327
DOI: 10.1002/bdr2.2306 -
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 -
Anales de Pediatria Feb 2024
Topics: Infant, Newborn; Humans; Amniotic Band Syndrome; Abdomen
PubMed: 38278692
DOI: 10.1016/j.anpede.2024.01.005 -
International Journal of Surgery Case... Feb 2024Amniotic band syndrome is a fetal entrapment in strands of amniotic tissue. This condition causes multiple deformities ranging from simple constricting bands to...
INTRODUCTION
Amniotic band syndrome is a fetal entrapment in strands of amniotic tissue. This condition causes multiple deformities ranging from simple constricting bands to lymphedema, autoamputation, syndactyly and other congenital anomalies. Reconstructive surgery is the main treatment for ABS.
PRESENTATION OF CASE
A 4-year-old male presented with multiple constricting bands affecting both hands in addition to an incomplete syndactyly between the third and fourth left digits. A two-staged operation was performed to repair the deformities with 6 months interval. Series of Z-plasties were used to release the constricting bands and the syndactyly was separated by a web zigzag incision approach and full-thickness skin grafting.
DISCUSSION
Management of ABS must be individualized. The urgency of the surgical release depends on the depth of the constricting bands and their influence on circulation and lymphatic drainage. Superficial bands can be released electively for cosmetic appearance while deep bands should be released as soon as possible. The separation of syndactyly should be done at the first year of life to maintain the digits functionality and parallel growth.
CONCLUSION
This paper emphasizes the importance of early repair of constricting bands associated with syndactyly to avoid the consequences of the delay on digital growth.
PubMed: 38262220
DOI: 10.1016/j.ijscr.2024.109277 -
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 -
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 -
Journal of Obstetrics and Gynaecology... Dec 2023
PubMed: 38143985
DOI: 10.1007/s13224-023-01849-6