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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 -
Pediatric Neurosurgery 2015Amniotic band syndrome is a group of sporadic congenital anomalies that involve the limbs, craniofacial regions and trunk, ranging from simple digital band constriction... (Review)
Review
Amniotic band syndrome is a group of sporadic congenital anomalies that involve the limbs, craniofacial regions and trunk, ranging from simple digital band constriction to complex craniofacial and central nervous system abnormalities. Placento-cranial adhesions in amniotic band syndrome are extremely rare, and severe conditions are associated with high morbidity and mortality rates. In this study, we pooled placento-cranial adhesion case reports that were published in the medical literature and added an unpublished case from our institution. The purpose of this article was to review and discuss the clinical features and outcomes of placento-cranial adhesions in amniotic band syndrome.
Topics: Adult; Amniotic Band Syndrome; Disease Management; Fatal Outcome; Female; Humans; Infant, Newborn; Male; Placenta; Pregnancy; Skull; Tissue Adhesions
PubMed: 26159096
DOI: 10.1159/000433603 -
Anatomia, Histologia, Embryologia Jan 2020The amniotic band syndrome is a congenital condition. It is characterized by the presence of fibrous amniotic bands that may entangle or entrap different foetal parts in...
The amniotic band syndrome is a congenital condition. It is characterized by the presence of fibrous amniotic bands that may entangle or entrap different foetal parts in utero, resulting in deformation, malformation or disruption. We report on a female piglet presenting amniotic band adherences in the right abdominal flank, several body wall defects (gastroschisis, abdominoschisis with omphalocele), severe scoliosis, anomalous umbilical cord with single umbilical artery, anal atresia, anomalous liver and absent gall bladder, hypoplastic genitalia, ankylosis and arthrogryposis in pelvic limbs, and bilateral patellar agenesia. The ethiopatogenia is discussed, as well as the comparative and embryological implications.
Topics: Amniotic Band Syndrome; Animals; Animals, Newborn; Congenital Abnormalities; Female; Fetus; Sus scrofa
PubMed: 31513296
DOI: 10.1111/ahe.12482 -
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 -
Radiographics : a Review Publication of... 2015Recent advances in prenatal imaging have made possible the in utero diagnosis of cleft lip and palate and associated deformities. Postnatal diagnosis of cleft lip is... (Review)
Review
Recent advances in prenatal imaging have made possible the in utero diagnosis of cleft lip and palate and associated deformities. Postnatal diagnosis of cleft lip is made clinically, but imaging still plays a role in detection of associated abnormalities, surgical treatment planning, and screening for or surveillance of secondary deformities. This article describes the clinical entities of cleft lip with or without cleft palate (CLP) and isolated cleft palate and documents their prenatal and postnatal appearances at radiography, ultrasonography (US), magnetic resonance (MR) imaging, and computed tomography (CT). Imaging protocols and findings for prenatal screening, detection of associated anomalies, and evaluation of secondary deformities throughout life are described and illustrated. CLP and isolated cleft palate are distinct entities with shared radiologic appearances. Prenatal US and MR imaging can depict clefting of the lip or palate and associated anomalies. While two- and three-dimensional US often can depict cleft lip, visualization of cleft palate is more difficult, and repeat US or fetal MR imaging should be performed if cleft palate is suspected. Postnatal imaging can assist in identifying associated abnormalities and dentofacial deformities. Dentofacial sequelae of cleft lip and palate include missing and supernumerary teeth, oronasal fistulas, velopharyngeal insufficiency, hearing loss, maxillary growth restriction, and airway abnormalities. Secondary deformities can often be found incidentally at imaging performed for other purposes, but detection is necessary because they may have considerable implications for the patient.
Topics: Abnormalities, Multiple; Amniotic Band Syndrome; Cleft Lip; Cleft Palate; Dentofacial Deformities; Diagnosis, Differential; Face; Female; Humans; Infant, Newborn; Magnetic Resonance Imaging; Oral Fistula; Pregnancy; Prenatal Diagnosis; Radiography; Plastic Surgery Procedures; Respiratory Tract Fistula; Sleep Apnea Syndromes; Tooth Abnormalities; Ultrasonography, Prenatal; Velopharyngeal Insufficiency
PubMed: 26562237
DOI: 10.1148/rg.2015150050 -
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 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 -
International Journal of Surgical... Aug 2017
Topics: Aborted Fetus; Abortion, Induced; Amnion; Amniotic Band Syndrome; Anencephaly; Cysts; Female; Humans; Limb Deformities, Congenital; Male; Photomicrography; Pregnancy; Ultrasonography, Prenatal
PubMed: 27881611
DOI: 10.1177/1066896916680073 -
Journal of Pediatric Neurosciences 2020Amniotic band syndrome is a rare condition that is associated with various malformations. Its etiology is controversial. The neuroimage shown here is of a newborn with...
Amniotic band syndrome is a rare condition that is associated with various malformations. Its etiology is controversial. The neuroimage shown here is of a newborn with placenta-encephalocele adhesion and other malformations that suggest amniotic band syndrome.
PubMed: 33042254
DOI: 10.4103/jpn.JPN_163_19 -
Child's Nervous System : ChNS :... Apr 2021Abnormal venous drainage in patients with craniofacial anomalies is relativity uncommon. Sinus pericranii is a rare vascular malformation characterized by communication...
Abnormal venous drainage in patients with craniofacial anomalies is relativity uncommon. Sinus pericranii is a rare vascular malformation characterized by communication between intracranial dural sinuses and extracranial venous drainage systems. The association between sinus pericranii and amniotic band syndrome has not been described. We report on a 7-month-old girl diagnosed with amniotic band sequence who underwent posterior fossa decompression due to intracranial hypertension and Chiari malformation type I. The computed tomography and magnetic resonance identified the connection between the sagittal sinus and the scalp. During the operation, the presence of sinus pericranii was a complicating factor limiting the proper exposure because of the risk of bleeding. Patients with craniofacial anomalies and sinus pericranii present an increased risk of serious surgical complications and consequences from craniofacial surgery, especially from cranioplasty and posterior decompression. Special attention must be paid to abnormal venous drainage, and vascular imaging studies are sometimes required.
Topics: Amniotic Band Syndrome; Decompression; Female; Humans; Infant; Infant, Newborn; Sinus Pericranii; Skull
PubMed: 32705328
DOI: 10.1007/s00381-020-04816-y