Search results for " malformation"
showing 10 items of 185 documents
Cavernous haemangioma of the external auditory canal: clinical case and review of the literature.
2010
SUMMARY Although benign vascular lesions are frequent in the head and the neck region, clinical evidence of cavernous haemangioma of the external auditory canal is extremely rare; when present, the lesion invades the middle ear space. Herein, a rare case of a soft mass filling the external auditory canal, not involving the tympanic membrane, in a symptomatic 59-year-old male is described. Clinical and audiological characteristics, imaging studies and surgical treatment with histological evaluation are reported, which led to a diagnosis of a cavernous haemangioma. This is only the seventh case described in the literature, to date, not involving the tympanic membrane and the middle ear space.…
Congenital renal arteriovenous malformation (aneurysmal type) in childhood.
1985
We report on a 9-year-old boy with a congenital renal arteriovenous fistula of the aneurysmal type, a form previously not observed in childhood. The clinical picture was unusual with severe arterial hypertension, excessive polyuria and decreased levels of serum sodium and chloride as main signs. Clinical and biochemical findings normalised after nephrectomy of the kidney involved.
Children with special health care needs attending emergency department in Italy: analysis of 3479 cases
2020
Abstract Background Although children with special health care needs (CSHCN) represent a minority of the population, they go through more hospitalizations, more admissions to the Emergency Department (ED), and receive a major number of medical prescriptions, in comparison to general pediatric population. Objectives of the study were to determine the reasons for admission to the ED in Italian CSHCN, and to describe the association between patient’s demographic data, clinical history, and health services requirements. Methods Ad hoc web site was created to collect retrospective data of 3479 visits of CSHCN to the ED in 58 Italian Hospitals. Results Seventy-two percent of patients admitted to …
Baraitser-Winter cerebrofrontofacial syndrome : Delineation of the spectrum in 42 cases
2015
International audience; Baraitser-Winter, Fryns-Aftimos and cerebrofrontofacial syndrome types 1 and 3 have recently been associated with heterozygous gain-of-function mutations in one of the two ubiquitous cytoplasmic actin-encoding genes ACTB and ACTG1 that encode beta- and gamma-actins. We present detailed phenotypic descriptions and neuroimaging on 36 patients analyzed by our group and six cases from the literature with a molecularly proven actinopathy (9 ACTG1 and 33 ACTB). The major clinical anomalies are striking dysmorphic facial features with hypertelorism, broad nose with large tip and prominent root, congenital non-myopathic ptosis, ridged metopic suture and arched eyebrows. Iris…
Exophthalmos and basilar impression. A contribution to differential diagnosis of endocrine orbitopathy.
1988
We report on a male patient with exophthalmos of unclear etiology, basilar impression, syringohydromyelia and type II Arnold-Chiari malformation. Two diseases involving the orbital region were to be considered in differential diagnostic terms: endocrine orbitopathy and osseous orbit dysplasia. The typical physical appearance associated with basilar impression as well as suppurative keratitis in Lagophthalmos was striking. Tetraspasticity with pareses, bulbar symptoms, proximally pronounced muscular atrophy as well as a left hemihypesthesia was shown neurologically. Although the orbit CT was normal, sonography revealed thickened ocular muscles. There was euthyroidism in diffuse goiter with n…
Clinical and genetic approach in the characterization of newborns with anorectal malformation
2022
Objective: This study aimed to investigate clinical, surgical, and genetic data of neonates with anorectal malformation (ARM). Study design: A retrospective observational study was conducted on neonates with ARM as an isolated type (group 1), with ≤2 (group 2), and with ≥3 associated malformations (group 3), born between 2009 and 2020. Distribution of ARM, associated abnormalities and genetic testing were analyzed, and risk factors for adverse outcomes were identified. Results: The 45 ARM cases (36% females) were divided as follows: 13 neonates belonging to group 1 (29%), 8 to group 2 (18%), and 24 to group 3 (53%). Cases were equally distributed over 11 years. Krickenbeck anatomy was: with…
Intrauterine growth restriction and congenital malformations: a retrospective epidemiological study
2013
Background: Intrauterine growth restriction (IUGR) and small for gestational age (SGA) birth have been considered possible indicators of the presence of malformations. The aim of this study is to evaluate such relationships in a population of newborns, along with other epidemiological and auxological parameters, in particular the ponderal index (PI). Methods: We analyzed the birth data of 1093 infants, classified according to weight for gestational age as SGA, appropriate for gestational age (AGA) or large for gestational age (LGA). The prevalence of malformations was analyzed in relation to weight percentile at birth and SGA birth, maternal smoking, pregnancy diseases and PI. Results: Our …
Growth charts of Down syndrome in Sicily: evaluation of 382 children 0-14 years of age.
2005
We present the results of a study performed on a Sicilian population of children with Down syndrome (DS) 0–14 years of age, observed between 1977 and 1988. Data from the present report concern 382 subjects with nonmosaic 21 trisomy, including 239 males (62.6%) and 143 females (37.4%). We excluded all DS children observed in the same period with associated pathology (congenital heart defects, gastrointestinal malformations, malabsorption, hypothyroidism, and thalassemia). Overall, 1,464 measurements were performed of length or height, weight, and head circumference. Means and standard deviation (SD) were calculated for all of these parameters. Our data confirm a trend toward a progressive im…
First results of a European multi-center registry of patients with anorectal malformations.
2013
Background: The European consortium on anorectal malformations (ARM-NET) was established to improve the health care of patients and to identify genetic and environmental risk factors. The aim of the present study was to present the first results on clinical data of a large European cohort of ARM patients based on our registry. Methods: In 2010, the registry was established including patient characteristics and data on diagnosis, surgical therapy, and outcome regarding complications. Patients born between 2007 and 2012 were retrospectively added. A descriptive analysis of this cohort was performed. Results: Two hundred and three ARM patients were included. Syndromes or chromosomal abnormalit…
Endoscopic third ventriculostomy in infants of less than 1�year of age: which factors influence the outcome?
2004
Endoscopic third ventriculostomy (ETV) is a successful method of treatment for obstructive hydrocephalus. In infants, however, it is reported to have a higher failure rate. On the basis of our own data and a meta-analysis of the literature, we try to define factors prognosticating potential failure in infants aged less than 1 year. Data were collected retrospectively. Between October 1994 and October 2002, 20 ETVs were performed in 16 patients younger than 1 year. Ages ranged from 8 to 311 days (median 103). Etiology was aqueductal stenosis in all 16 patients (idiopathic in 7, posthemorrhagic in 3, postmeningitic in 3, and related to CNS or vascular malformation in 3). ETV failure was defin…