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Taiwanese Journal of Obstetrics &... Mar 2020Anomalies in the müllerian ducts are congenital alterations with more prevalence than it is imagined, varying from 0.5 to 6.7% in the general population and up to 16.7%... (Review)
Review
Anomalies in the müllerian ducts are congenital alterations with more prevalence than it is imagined, varying from 0.5 to 6.7% in the general population and up to 16.7% in women with recurrent miscarriage. The main findings are primary amenorrhea, dysmenorrhea, pelvic pain, endometriosis, sexual difficulties and low self-esteem. The major impact on the quality of life in women stricken by these problems justifies this study, whose objective is to analyze their most important aspects such as etiopathogeny, classification, diagnostic methods and proposed treatments. The research was performed on the Medline-PubMed database from 1904 to 2018. The American Fertility Society, European Society of Human Reproduction and Embryology, and the European Society of Gynaecological Endoscopy classify malformations as: Class 1/U5bC4V4: agenesis or hypoplasia of uterus and vagina; Class 1/U5aC4V4: cervical hypoplasia, associated with total or partial vaginal agenesis; Class 2/U4: unicornuate uterus; Class 3/U3bC2V1 or Class3/U3bC2V2: uterus didelphys; Class 4/U3C0: bicornuate uterus; Class 5/U2: septate uterus; Class 6: arcuate uterus; Class 7/U1: induced by diethylstilbestrol, represented by a T-shaped uterus; and V3: transverse vaginal septum. The diagnostic methods are the two-dimensional or three-dimensional ultrasound, MRI, hysterosalpingo-contrast-sonography, X-ray hysterosalpingography, hysteroscopy and laparoscopy. Some müllerian malformations are healed with surgery and/or self-dilatation. For vaginal agenesis, dilatation by Frank technique shows good results while malformations with obstruction of the menstrual flow need to be rapidly treated by surgery.
Topics: Adult; Congenital Abnormalities; Dysmenorrhea; Endometriosis; Female; Humans; Hysterosalpingography; Hysteroscopy; Laparoscopy; Magnetic Resonance Imaging; Mullerian Ducts; Pelvic Pain; Pregnancy; Sexual Dysfunction, Physiological; Ultrasonography; Urogenital Abnormalities; Uterus; Vagina
PubMed: 32127135
DOI: 10.1016/j.tjog.2020.01.003 -
Orthopaedics & Traumatology, Surgery &... Feb 2020Congenital pathologies of the forefoot encompass two broad entities with vastly different treatments and prognosis: malformations, which occur during the embryonic... (Review)
Review
Congenital pathologies of the forefoot encompass two broad entities with vastly different treatments and prognosis: malformations, which occur during the embryonic period and cause anatomical defects, and deformations, which occur during the fetal period on a foot that is configured normally. These deformities are more easily cured when they occur later during the fetal period. When the anomaly is bilateral, a genetic origin must be considered. There are two main entities under the term "deformity": metatarsus adductus and skewfoot (aka "Z"-foot or serpentine foot). Within malformations are brachydactyly (transverse defects), longitudinal defects, syndactyly, polydactyly, clinodactyly and macrodactyly. Among other forefoot abnormalities are hallux valgus, which rarely presents in congenital form, and for which conservative treatment is sometimes sufficient. Also in this group are sequelae of amniotic band constriction, forefoot anomalies secondary to the treatment of congenital pathologies (talipes equinovarus and congenital vertical talus) and nail-related pathologies (ingrown toe nail and incorrect nail position).
Topics: Child; Foot Deformities, Congenital; Global Health; Humans; Incidence; Metatarsal Bones; Radiography
PubMed: 31648997
DOI: 10.1016/j.otsr.2019.03.021 -
Genes Jun 2021Coffin-Siris syndrome (CSS, MIM 135900) is a multi-system intellectual disability syndrome characterized by classic dysmorphic features, developmental delays, and organ...
Coffin-Siris syndrome (CSS, MIM 135900) is a multi-system intellectual disability syndrome characterized by classic dysmorphic features, developmental delays, and organ system anomalies. Genes in the BRG1(BRM)-associated factors (BAF, Brahma associated factor) complex have been shown to be causative, including , , , , , , , , , and . In order to describe more robust genotype-phenotype correlations, we collected data from 208 individuals from the CSS/BAF complex registry with pathogenic variants in seven of these genes. Data were organized into cohorts by affected gene, comparing genotype groups across a number of binary and quantitative phenotypes. We determined that, while numerous phenotypes are seen in individuals with variants in the BAF complex, hypotonia, hypertrichosis, sparse scalp hair, and hypoplasia of the distal phalanx are still some of the most common features. It has been previously proposed that individuals with -related variants are thought to have more learning and developmental struggles, and individuals with -related variants, while they also have developmental delay, tend to have more severe organ-related complications. -related variants also have developmental differences and organ-related complications but are most associated with neurodevelopmental differences. While these generalizations still overall hold true, we have found that all individuals with BAF-related conditions are at risk of many aspects of the phenotype, and management and surveillance should be broad.
Topics: Abnormalities, Multiple; Face; Genotype; Hand Deformities, Congenital; Humans; Intellectual Disability; Micrognathism; Mutation; Neck; Phenotype; Transcription Factors
PubMed: 34205270
DOI: 10.3390/genes12060937 -
Journal of Ayub Medical College,... 2018Various shoulder bone deformities have been identified in the pediatric age group, with the most common being undescended scapula. Sprengel's deformity is dysplasia and...
Various shoulder bone deformities have been identified in the pediatric age group, with the most common being undescended scapula. Sprengel's deformity is dysplasia and malposition of the scapula, especially in the supraspinatus portion, mainly due to abnormal descent in the embryonic period. The clavicle is shorter and has a different contour. In some patients cervical spine deformities are also noted. This is a case of 3 years old girl presented to the clinic with difficulty in abducting right shoulder and sleeping with an internal rotation of the right arm. With physical examinations and radiological investigations sprengel's deformity was diagnosed. Sprengel's deformity is a male predominant disease which almost never occurs in isolation and is usually associated with deformities in the thoracic rib cage and the cervical and thoracic vertebrae. Our patient also had hyperpigmentation along the lines of Blaschko, which has never been previously reported with Sprengel's deformity. Sprengel's may have an association with cutaneous mosacism syndrome.
Topics: Child, Preschool; Congenital Abnormalities; Female; Humans; Hyperpigmentation; Scapula; Shoulder Joint
PubMed: 29504352
DOI: No ID Found -
Orphanet Journal of Rare Diseases Jan 2019Freeman-Burian syndrome (FBS) is a rare congenital myopathic craniofacial syndrome. Considerable variability in severity is seen, but diagnosis requires the following:... (Review)
Review
CLINICAL DESCRIPTION
Freeman-Burian syndrome (FBS) is a rare congenital myopathic craniofacial syndrome. Considerable variability in severity is seen, but diagnosis requires the following: microstomia, whistling-face appearance (pursed lips), H or V-shaped chin defect, and prominent nasolabial folds. Some patients do not have limb malformations, but essentially all do, typically camptodactyly with ulnar deviation of the hand and talipes equinovarus. Neuro-cognitive function is not impaired.
EPIDEMIOLOGY
Population prevalence of FBS is unknown.
AETIOLOGY
Environmental and parental factors are not implicated in pathogenesis. Allelic variations in embryonic myosin heavy chain gene are associated with FBS. White fibrous tissue within histologically normal muscle fibres and complete replacement of muscle by fibrous tissue, which behaves like tendinous tissue, are observed.
MANAGEMENT
Optimal care seems best achieved through a combination of early craniofacial reconstructive surgery and intensive physiotherapy for most other problems. Much of the therapeutic focus is on the areas of fibrous tissue replacement, which are either operatively released or gradually stretched with physiotherapy to reduce contractures. Operative procedures and techniques that do not account for the unique problems of the muscle and fibrous tissue replacement have poor clinical and functional outcomes. Important implications exist to facilitate patients' legitimate opportunity to meaningfully overcome functional limitations and become well.
Topics: Abnormalities, Multiple; Contracture; Craniofacial Dysostosis; Humans; Limb Deformities, Congenital
PubMed: 30630514
DOI: 10.1186/s13023-018-0984-2 -
Internal Medicine (Tokyo, Japan) May 2021
Topics: Abnormalities, Multiple; Heart Defects, Congenital; Heart Septal Defects, Atrial; Humans; Lower Extremity Deformities, Congenital; Upper Extremity Deformities, Congenital
PubMed: 33281169
DOI: 10.2169/internalmedicine.6390-20 -
Ultrasound in Obstetrics & Gynecology :... Oct 2019To examine the performance of the routine 11-13-week scan in detecting fetal non-chromosomal abnormalities.
OBJECTIVE
To examine the performance of the routine 11-13-week scan in detecting fetal non-chromosomal abnormalities.
METHODS
This was a retrospective study of prospectively collected data from 100 997 singleton pregnancies attending for a routine ultrasound examination of fetal anatomy, performed according to a standardized protocol, at 11-13 weeks' gestation. All continuing pregnancies had an additional scan at 18-24 weeks and 71 754 had a scan at either 30-34 or 35-37 weeks. The final diagnosis of fetal abnormality was based on the results of postnatal examination in cases of live birth and on the findings of the last ultrasound examination in cases of pregnancy termination, miscarriage or stillbirth. The performance of the 11-13-week scan in the detection of fetal abnormalities was determined.
RESULTS
The study population contained 1720 (1.7%) pregnancies with a fetal abnormality, including 474 (27.6%) detected on the first-trimester scan, 926 (53.8%) detected on the second-trimester scan and 320 (18.6%) detected in the third trimester or postnatally. At 11-13 weeks' gestation, we diagnosed all cases of acrania, alobar holoprosencephaly, encephalocele, tricuspid or pulmonary atresia, pentalogy of Cantrell, ectopia cordis, exomphalos, gastroschisis and body-stalk anomaly and > 50% of cases of open spina bifida, hypoplastic left heart syndrome, atrioventricular septal defect, complex heart defect, left atrial isomerism (interrupted inferior vena cava with normal intracardiac anatomy), lower urinary tract obstruction, absence of extremities, fetal akinesia deformation sequence and lethal skeletal dysplasia. Common abnormalities that were detected in < 10% of cases at 11-13 weeks included ventriculomegaly, agenesis of the corpus callosum, isolated cleft lip, congenital pulmonary airway malformation, ventricular septal defect, abdominal cysts, unilateral renal agenesis or multicystic kidney, hydronephrosis, duplex kidney, hypospadias and talipes.
CONCLUSIONS
A routine 11-13-week scan, carried out according to a standardized protocol, can identify many severe non-chromosomal fetal abnormalities. A summary statistic of the performance of the first-trimester scan is futile because some abnormalities are always detectable, whereas others are either non-detectable or sometimes detectable. To maximize prenatal detection of abnormalities, additional scans in both the second and third trimesters are necessary. Copyright © 2019 ISUOG. Published by John Wiley & Sons Ltd.
Topics: Adult; Congenital Abnormalities; Female; Fetus; Gestational Age; Humans; Nuchal Translucency Measurement; Pregnancy; Pregnancy Trimester, First; Pregnancy Trimester, Second; Pregnancy Trimester, Third; Prenatal Care; Retrospective Studies; Ultrasonography, Prenatal
PubMed: 31408229
DOI: 10.1002/uog.20844 -
Skeletal Radiology Apr 2019Following the thalidomide disaster (1958-62), Henkel and Willert analysed the pattern of dysmelia in the long bones (J Bone Joint Surg Br. 51:399-414, 1969) and the... (Review)
Review
BACKGROUND
Following the thalidomide disaster (1958-62), Henkel and Willert analysed the pattern of dysmelia in the long bones (J Bone Joint Surg Br. 51:399-414, 1969) and the extremities, Willert and Henkel (Z Orthop Ihre Grenzgeb. 107:663-75, 1970). Willert's material from deformed extremities is re-examined here asking "How does thalidomide reduce the skeleton?"
MATERIALS AND METHODS
We reviewed the original data collection of Willert and Henkel (Z Orthop Ihre Grenzgeb. 107:663-75, 1970), comprising musculoskeletal histology slides from 30 children affected by thalidomide with radiographs of hands (19 cases) and feet (4 cases).
RESULTS
All original observations by Willert and Henkel (Z Orthop Ihre Grenzgeb. 107:663-75, 1970), were verified. Radial rays of the hand disappeared early, but the foot was spared until late. Radiology confirms that bone reduction in the hand (aplasia or hypoplasia in the thumb and index finger) coincides with sensory segmental nerve C6. In the foot, reduction of the toes is rare, but mesenchymal excess (polydactyly) occurs in the hallux (L5 sclerotome), usually associated with absent tibia (L4 sclerotome). Histology confirms skeletal mesenchymal components to be unremarkable, contrasting with grossly abnormal bony architecture, a striking discordance between microscopic and macroscopic findings. No necrosis or vascular pathology was seen.
CONCLUSION
The basic lesion was an abnormal quantity rather than quality of mesenchyme. Cell populations result from cellular proliferation, controlled in early limb bud formation by neurotrophism. Thalidomide is a known sensory neurotoxin in adults. In the embryo, sensorineural injury alters neurotrophism, causing increased or diminished cell proliferation in undifferentiated mesenchyme. Differentiation into normal cartilage occurs later, but within an altered mesenchymal mass. Reduction or excess deformity results, with normal histology, a significant finding. The primary pathological condition is not in the skeleton, but in the nerves.
Topics: Abnormalities, Drug-Induced; Extremities; Humans; Infant, Newborn; Limb Deformities, Congenital; Peripheral Nervous System Diseases; Thalidomide
PubMed: 30341712
DOI: 10.1007/s00256-018-3086-2 -
European Journal of Pediatrics Mar 2018Congenital portosystemic venous shunts are rare developmental anomalies resulting in diversion of portal flow to the systemic circulation and have been divided into... (Review)
Review
UNLABELLED
Congenital portosystemic venous shunts are rare developmental anomalies resulting in diversion of portal flow to the systemic circulation and have been divided into extra- and intrahepatic shunts. They occur during liver and systemic venous vascular embryogenesis and are associated with other congenital abnormalities. They carry a higher risk of benign and malignant liver tumors and, if left untreated, can result in significant medical complications including systemic encephalopathy and pulmonary hypertension.
CONCLUSION
This article reviews the various types of congenital portosystemic shunts and their anatomy, pathogenesis, symptomatology, and timing and options of treatment. What is Known: • The natural history and basic management of this rare congenital anomaly are presented. What is New: • This paper is a comprehensive review; highlights important topics in pathogenesis, clinical symptomatology, and treatment options; and proposes an algorithm in the management of congenital portosystemic shunt disease in order to provide a clear idea to a pediatrician. An effort has been made to emphasize the indications for treatment in the children population and link to the adult group by discussing the consequences of lack of treatment or delayed diagnosis.
Topics: Abnormalities, Multiple; Endovascular Procedures; Hepatectomy; Humans; Ligation; Liver Transplantation; Portal Vein; Vascular Malformations
PubMed: 29243189
DOI: 10.1007/s00431-017-3058-x -
The Pan African Medical Journal 2021
Topics: Abnormalities, Multiple; Child, Preschool; Ectromelia; Foot Deformities, Congenital; Hand Deformities, Congenital; Humans; Male; Nose
PubMed: 34887989
DOI: 10.11604/pamj.2021.40.115.28167