Search results for "abnormalities"

The clinical relevance of non-classified dysganglionoses and implications for a new grading system

2001

In addition to the classified types of dysganglionosis, certain non-classified dysganglionoses (NCD) (types 1-4) were introduced by Meier-Ruge in 1992. Clinical data on these conditions are limited. Among 134 children with intestinal dysganglionoses (ID) treated from 1979 to 1999, 12 were identified to have a NCD. Their clinical course is presented. The existence of mild ID (type 1) is difficult to demonstrate. Current definitions and data on clinical relevance are not convincing. An indication for surgical treatment is not present. Isolated hypogenesis of the submucous plexus (SMP) (type 2, n = 8) is clinically a more severe kind of intestinal neuronal dysplasia type B and often requires e…

Optical Coherence Tomography Characterization of Macular Changes Secondary to Arteriovenous Fistula

2017

Arteriovenous fistulas (AVFs) are abnormal shunts between the arterial and venous vascular systems. These usually produce ocular pain, increased intraocular pressure (IOP), and diplopia. Less frequently, they may cause retinal changes with visual impairment. Our purpose is to illustrate different retinal manifestations of AVF. We report the multimodal imaging study of three cases with retinal changes due to AVF, showing neurosensory retinal detachment, macular oedema, and macular ischemia. In conclusion, AVF may appear with different ophthalmic alterations. While usually increased IOP and diplopia are our main concerns, retinal study is mandatory, since a myriad of morphologic abnormalities…

Oral findings in Midline Syndrome: a case report and literature review

2010

We describe a female patient with a midline syndrome. The patient presents agenesis of the corpus callosum, encephalocele, iris coloboma, hypertelorism, submucosal cleft palate and dental anomalies. Despite being very characteristic, her phenotypical traits do not coincide exactly with those reported to date in the literature. The karyotype and the molecular cytogenetic study do not show mutations. We identify the presence of dental anomalies in the mother and other family members, not being identified MSX1 and PAX9 mutations that could the related with their etiology. Despite the fact that dental agenesis has been related to a large number of other malformation syndromes and congenital con…

Characteristics of mucocutaneous vascular malformations drawn from a decade of a multidisciplinary committee experience.

2021

Vascular malformations (VM) are congenital, benign, and relatively frequent lesions. Scant data have been published about the epidemiology, clinical presentation, and treatment of VM from a dermatologist's perspective. The substantial differences between subtypes, broad range of specialists consulted and confusing nomenclature used over previous years may hamper a correct diagnosis. The main objective of this study is to describe VM epidemiology. As a secondary endpoint we evaluate clinical characteristics, clinical-radiological correlation and treatment approaches. We carried out an observational, descriptive, retrospective study. Cases presented to the multidisciplinary committee of our h…

An unusual otomicroscopy diagnosis.

2003

Orthopedic-orthodontic treatment of the patient with Turner's syndrome: Review of the literature and case report.

2018

Aims Turner syndrome (TS) patients have phenotypical variable presentations and they are more susceptible to endocrine, auto-immune, and structural anomalies. Typical clinical characteristics are short stature and premature ovarian insufficiency. Patients with TS show a typical cranial-facial morphology with bi-maxillary bi-retrusion, high-arched palate, micrognathia, and class II malocclusion. Aim of our study is to present the orthopedic-orthodontic treatment approach of a young TS patient and data of stability after 7 years. Methods and results A careful analysis of anamnestic data was performed. After extraoral and intraoral examination, cephalometric measurements and examination of mod…

The world of twins: an update

2010

In last years, owing to the widespread availability of assisted-reproduction technology, multiple pregnancy rates in Western countries have increased. In twin pregnancies, an increased rate of gestational complications, intrauterine growth restriction (IUGR), preterm birth and severe perinatal conditions is present. These complications are more frequent in monozygotic twins compared to dizygotic twins as well as an increased relative risk of chromosomal abnormalities and congenital malformation. Monochorionic twins are at higher risk for complications, since they share a common placenta where an imbalance in unidirectional arteriovenous anastomoses can lead to twin#x2013;twin transfusion sy…

Bladder Mucosal Graft Vaginoplasty: A Case Report

2018

Abstract Background Female vaginoplasty reconstruction, by choice, is usually performed with adjacent tissue. However in some clinical conditions such as high urogenital confluence sinus, cloacal malformation with extreme vaginal hypoplasia, local tissue may not be available. When vaginal replacement is performed in pediatric patients intestinal segments is preferred to non-operative procedures that require continuative dilations. However mucus production, malignant transformation risk and diversion colitis are important side effects. Technique We present a nouvel technique for vaginoplasty in a female child presenting with an isolated urogenital sinus malformation without virilization. The…

Perspectives actuelles dans la microdélétion 22q11.2 : prise en charge du phénotype neurocomportemental

2015

Resume La microdeletion 22q11.2 est le syndrome microdeletionnel le plus frequent de la population generale. Le phenotype associe des anomalies de l’appareil pharynge embryonnaire a un phenotype neurocomportemental. La presentation clinique du syndrome est extremement variable d’un individu a l’autre, quelle que soit la taille de la deletion, et plus de 180 manifestations ont ete decrites, aucune n’etant pathognomonique. Les symptomes psychiatriques, particulierement de nature psychotique, sont frequents dans la microdeletion 22q11.2 et de nombreux psychiatres sont amenes a rencontrer ces patients. La prise en charge doit tenir compte des particularites du syndrome. L’evaluation de la neuro…

Case report of a large cephalic vein aneurysm inducing heart failure in a renal transplant patient with radio-cephalic fistula for haemodialysis

2020

Highlights • The venous aneurysm is one of the most common complications of autologous AVF. • The vein aneurysm should be treat by surgical resection and anastomotic ligature. • AVF shouldn’t be ligated from 1-year kidney transplantation except in some cases. • Surgical ligation to prevent complications could be considered an option.