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Hand (New York, N.Y.) Nov 2022Moebius syndrome is a disorder characterized by facial and abducens nerve paralysis. Patients can present a wide range of upper extremity malformations. Literature...
BACKGROUND
Moebius syndrome is a disorder characterized by facial and abducens nerve paralysis. Patients can present a wide range of upper extremity malformations. Literature focused on orthopedic manifestations of Moebius syndrome shows variability in the prevalence and clinical presentation of upper extremity anomalies. The aim of this work is to evaluate the prevalence of upper extremity malformations in patients with Moebius syndrome, clarify its various clinical presentations, and present treatment strategies for their management.
METHODS
This is a retrospective, cross-sectional study including patients with Moebius syndrome and upper extremity malformations between 2012 and 2019. Data include demographic characteristics, Moebius syndrome subtype, type of malformation, affected extremity, and surgical procedures underwent. Quantitative data were recorded as mean (standard deviation [SD]), and qualitative data were expressed in terms of totals and percentages. Statistical association between Moebius syndrome subtype and development of upper extremity anomalies was evaluated using binary logistic regression.
RESULTS
Twenty-five out of 153 patients (16.3%) presented upper extremity malformations (48% male). Mean age of presentation was 9.08 ± 9.43 years. Sixty-eight percent of the malformations were unilateral. The most common presentations included Poland syndrome and simple syndactyly with 8 cases each (32%), followed by 5 cases of brachysyndactyly (20%), 3 cases of amniotic band syndrome (12%), and 1 case of cleft hand (4%). No statistical association was found between Moebius syndrome subtype and odds ratio for development of upper extremity anomalies. Thirteen patients (52%) underwent reconstructive procedures.
CONCLUSION
Poland syndrome and syndactyly are the most common anomalies in patients with Moebius syndrome. Patients may present with a wide range of hand malformations, each patient should be carefully evaluated in order to determine whether surgical treatment is needed and to optimize rehabilitation protocols.
Topics: Infant, Newborn; Humans; Male; Child; Adolescent; Female; Mobius Syndrome; Poland Syndrome; Retrospective Studies; Prevalence; Cross-Sectional Studies; Hand Deformities
PubMed: 33641474
DOI: 10.1177/1558944721994265 -
Ultrasound in Obstetrics & Gynecology :... Aug 1996We present a case and review of the literature of an amniotic band causing malformation in the distal forearm in a baby born to a methadone-dependent mother. This... (Review)
Review
We present a case and review of the literature of an amniotic band causing malformation in the distal forearm in a baby born to a methadone-dependent mother. This diagnosis was made prenatally at the routine 18-20-week gestation anomaly ultrasound scan. Histology of the amniotic band postpartum revealed hair shafts within its structure. This has not previously been documented, nor has an association of this syndrome with systematic abuse of methadone. The fact that this anomaly could be detected by prenatal ultrasound scanning is of value in the counselling of high-risk pregnancies such as this.
Topics: Adult; Amniotic Band Syndrome; Female; Fetal Diseases; Forearm; Gestational Age; Humans; Infant, Newborn; Methadone; Pregnancy; Pregnancy, High-Risk; Radiography; Substance-Related Disorders; Ultrasonography, Prenatal
PubMed: 8883316
DOI: 10.1046/j.1469-0705.1996.08020123.x -
Medical Journal, Armed Forces India Apr 2001
PubMed: 27407331
DOI: 10.1016/S0377-1237(01)80148-9 -
Global Pediatric Health 2022A 1-day-old late preterm, small-for-gestational-age female presented with a caudal appendage-a rare finding-and abnormalities in all 4 limbs most consistent with...
A 1-day-old late preterm, small-for-gestational-age female presented with a caudal appendage-a rare finding-and abnormalities in all 4 limbs most consistent with amniotic band syndrome. The caudal appendage was lateral to midline, measured 3 cm × 0.5 cm, and had no bony abnormalities or spinal cord tethering. Limb abnormalities consisted of brachydactyly, oligodactyly, and syndactyly. Renal and head ultrasounds and an echocardiogram were normal. Chromosomal microarray showed deletion of , which is not associated with a known phenotype. The multidisciplinary approach of managing this infant with the rare finding of a caudal appendage and limb abnormalities is presented.
PubMed: 36176488
DOI: 10.1177/2333794X221127545 -
Molecular Genetics & Genomic Medicine Oct 2020Precise diagnosis and classification of CBWA cases can be challenging. BSA are considered when there is a body wall anomaly, skeletal abnormalities, and the umbilical...
BACKGROUND
Precise diagnosis and classification of CBWA cases can be challenging. BSA are considered when there is a body wall anomaly, skeletal abnormalities, and the umbilical cord is anomalous, absent or rudimentary, and LBWC when there is a body wall and structural limb anomalies with or without craniofacial abnormalities.
METHODS
PubMed was searched for body stalk anomalies, limb body wall complex, body stalk anomalies and amniotic band syndrome, and limb body wall complex and amniotic band syndrome. Sixty nine articles were selected and reviewed. This article systematically classifies the variants of CBWA in 218 cases, the study is based on the embryological and anatomical criteria established by Martín-Alguacil and Avedillo to study BSA in the pig.
RESULTS
Eight different BSA presentation were defined. One hundred and eighty nine cases were classified as BSA, from which five were Type I, nine Type II, 20 Type III, 57 Type IV, 11Type V, 24 Type VI, 11 Type VII, and 52 Type VIII. Twenty six cases presented cranial phenotype, 114 abdominal phenotype, 42 cranio/abdominal overlapping phenotype, and five without defined phenotype. In addition, 52 BSA cases presented some kind of spinal dysraphism (SPDYS) and were classified as BSA/SPDYS, most of these cases did not show structural limb anomalies, except for three cases and were classified as LBWC/SPDYS.
CONCLUSION
This morphology-based classification represents a useful tool for clinical diagnosis, it helps to quantify and to evaluate CBWA in a precise, objective manner.
Topics: Abdomen; Congenital Abnormalities; Embryonic Development; Humans; Phenotype; Skull
PubMed: 32856427
DOI: 10.1002/mgg3.1465 -
Journal of Pediatric Neurosciences 2019Amniotic band syndrome (ABS) is a rare congenital disease with variable manifestations ranging from simple constriction rings at the extremities to major defects such as...
Amniotic band syndrome (ABS) is a rare congenital disease with variable manifestations ranging from simple constriction rings at the extremities to major defects such as exencephaly. Here we report the case of a female baby born full term (39 weeks) from a 35-year-old primiparous mother by cesarean section. In addition to the constriction rings at the extremities (fingers), the newborn presented facial malformations and a cranial anomaly suggestive of exencephaly. Supportive treatment was chosen because of the poor prognosis, and the child died 5 months later. Depending on the anomaly associated with ABS and its complexity, as in our case, genetic studies should be performed whenever possible, and the parents should be informed about the possibility of recurrences and incompatibility with life.
PubMed: 31516628
DOI: 10.4103/jpn.JPN_130_18 -
Taiwanese Journal of Obstetrics &... Jun 2008Fetuses with neural tube defects (NTDs) may be associated with syndromes, disorders, and maternal and fetal risk factors. This article provides a comprehensive review of... (Review)
Review
Fetuses with neural tube defects (NTDs) may be associated with syndromes, disorders, and maternal and fetal risk factors. This article provides a comprehensive review of syndromes, disorders, and maternal and fetal risk factors associated with NTDs, such as omphalocele, OEIS (omphalocele-exstrophy-imperforate anus-spinal defects) complex, pentalogy of Cantrell, amniotic band sequence, limb-body wall complex, Meckel syndrome, Joubert syndrome, skeletal dysplasia, diabetic embryopathy, and single nucleotide polymorphisms in genes of glucose metabolism. NTDs associated with syndromes, disorders, and maternal and fetal risk factors are a rare but important cause of NTDs. The recurrence risk and the preventive effect of maternal folic acid intake in NTDs associated with syndromes, disorders and maternal risk factors may be different from those of nonsyndromic multifactorial NTDs. Perinatal identification of NTDs should alert the clinician to the syndromes, disorders, and maternal and fetal risk factors associated with NTDs, and prompt a thorough etiologic investigation and genetic counseling.
Topics: Adult; Amniotic Band Syndrome; Animals; Anus, Imperforate; Apoptosis; Female; Glucose; Hernia, Umbilical; Humans; Infant, Newborn; Neural Tube Defects; Polymorphism, Single Nucleotide; Pregnancy; Proteins; Risk Factors; Spinal Dysraphism; Syndrome
PubMed: 18603496
DOI: 10.1016/S1028-4559(08)60070-4 -
The American Journal of Pathology Aug 2015Amniocentesis in rats is associated with different malformations, such as cleft palate and limb deformation, resembling the human congenital amniotic band syndrome...
Amniocentesis in rats is associated with different malformations, such as cleft palate and limb deformation, resembling the human congenital amniotic band syndrome (ABS). Despite many human cases reported in the literature, little is known about the mechanisms involved in ABS. This study addressed if the activation of the transforming growth factor-β1 (TGF-β1) pathway is, in part, associated with amniotic band formation and growth restriction induced in rats by amniocentesis, as by a previously published model. For this purpose, quantification of TGF-β1, α-smooth muscle actin, and collagen type I mRNA and protein levels were determined by quantitative PCR and Western blot analysis, respectively, in the fetus, its amniotic membrane, and the uterus of experimental and control rats. We found that TGF-β1 mRNA levels are increased in the fetus and the amniotic membrane at 6 hours, whereas α-smooth muscle actin, phosphorylated Smad3, and collagen type I increased at 48 hours, suggesting that a fibrotic response is induced after the amniotic sac puncture. Furthermore, fetuses had hemorrhages, syndactyly, and amputation of limbs, similar to human ABS.
Topics: Actins; Amniocentesis; Amniotic Band Syndrome; Animals; Collagen Type I; Disease Models, Animal; Female; Fetal Growth Retardation; Rats; Transforming Growth Factor beta1
PubMed: 26055209
DOI: 10.1016/j.ajpath.2015.04.006 -
Hand (New York, N.Y.) May 2019The purpose of this study was to report the surgical treatment experience of patients with amniotic constriction bands (ACB) over a 35-year interval and detail...
BACKGROUND
The purpose of this study was to report the surgical treatment experience of patients with amniotic constriction bands (ACB) over a 35-year interval and detail consequential limb deformities with emphasis on hands and upper extremities, along with the nature and frequency of their surgical treatment methods.
METHODS
Fifty-one patients were identified; 26 were males and 25 females. The total number of deformities was listed. The total number of operations, individual procedures, and operations plus procedures that were done for each patient and their frequency were recorded.
RESULTS
The total number of operations was 117, and total number of procedures was 341. More procedures were performed on the upper extremity (85%) than the lower extremity (15%). Including the primary deformity ACB, 16 different hand deformities secondary to ACB were encountered. Sixteen different surgical methods for the upper extremity were utilized; a primary procedure for ACB and secondary reconstructions for all secondary deformities. Average age at the time of the first procedure was 9.3 months. The most common procedures performed, in order of frequency, were excision of ACB plus Z-plasty, release of partial syndactyly, release of fenestrated syndactyly, full-thickness skin grafts, resection of digital bony overgrowth from amputation stumps, and deepening of first and other digital web spaces.
CONCLUSIONS
Many hand and upper extremity deformities secondary to ACB are encountered. Children with ACB may require more than one operation including multiple procedures. Numerous surgical methods of reconstruction for these children's secondary deformities are necessary in addition to the customary primary procedure of excision of ACB and Z-plasty.
Topics: Amniotic Band Syndrome; Constriction; Female; Hand Deformities, Acquired; Humans; Infant; Male; Plastic Surgery Procedures; Skin Transplantation; Syndactyly; Upper Extremity
PubMed: 29319351
DOI: 10.1177/1558944717750917 -
International Journal of Reproductive... 2016Body stalk anomaly (BSA) and amniotic band syndrome (ABS) are rare similar fetal sporadic polymalformative syndromes of unknown etiology, though there are certain...
Body stalk anomaly (BSA) and amniotic band syndrome (ABS) are rare similar fetal sporadic polymalformative syndromes of unknown etiology, though there are certain differences between them. BSA is a combination of developmental abnormalities involving neural tube, body wall, and the limbs with persistent extra embryonic coelomic cavity. ABS is characterized by the presence of thin membrane-like strands attached to fetal body parts and causing constrictions and amputations. This is a cohort study involving 32,100 patients who were referred for routine antenatal ultrasound scan. The data was entered prospectively into a computer database. The duration of study was 3 years. In our study, ultrasound examination in 86 patients demonstrated ventral wall defects, craniofacial defects, and spinal and limb deformities as isolated or combined abnormalities. In those, 10 patients were suspected/diagnosed as BSA/ABS including a twin of a dichorionic diamniotic gestation. The typical features of body stalk anomaly can be detected by ultrasound by the end of the first trimester, which is important for the patient counselling and management. We are presenting these rare conditions and highlighting the importance of early sonographic imaging in diagnosing and differentiating them from other anterior abdominal wall defects.
PubMed: 27699204
DOI: 10.1155/2016/3974139