Search results for "Abnormalities"
showing 10 items of 638 documents
Studies of malformation syndromes of man XIB: the cerebro-hepato-renal syndrome of zellweger: Comparative pathology
1976
A study of 11 autopsied cases of the cerebro-hepato-renal syndrome of Zellweger (ZS) is reported. All cases had severe, persistent congenital hypotonia, hepatic lobular disarray, renal cortical cysts and pulmonary hypoplasia. Many had cardiovascular malformations, hepatomegaly, cerebral cortical gyral maldevelopment and pancreatic islet hyperplasia. Additional, less frequent findings are delineated. Results of iron content studies of hepatic and renal tissues are related to age of survival and possible development of fibrosis.
Clinical Delineation Of A Subtype Of Frontonasal Dysplasia With Creased Nasal Ridge And Upper Limb Anomalies: Report Of Six Unrelated Patients
2017
IF 2.259; International audience; Frontonasal dysplasias are rare congenital malformations of frontonasal process-derived structures, characterized by median cleft, nasal anomalies, widely spaced eyes, and cranium bifidum occultum. Several entities of syndromic frontonasal dysplasia have been described, among which, to date, only a few have identified molecular bases. We clinically ascertained a cohort of 124 individuals referred for frontonasal dysplasia. We identified six individuals with a similar phenotype, including one discordant monozygous twin. Facial features were remarkable by nasal deformity with creased ridge and depressed or absent tip, widely spaced eyes, almond-shaped palpebr…
Array-CGH and clinical characterization in a patient with subtelomeric 6p deletion without ocular dysgenesis
2011
Subtelomeric terminal 6p deletion has been recognized as a clinically identifiable syndrome including facial dysmorphism, malformation of the anterior eye chamber, hearing loss, heart defect and developmental delay. Genotype –phenotype correlations of previously published patients have been strongly suggested anterior eye segment anomalies as one of major malformation of the syndrome if the critical 6p25 region containing the FOXC 1 gene. In addition it has been hypothesized the presence in this region of one or more genes involved in hearing loss. We report on a case of terminal 6p deletion in a 47, XYY karyotype. Further characterization of the deletion with array comparative genome hybri…
Major Congenital Anomalies in Babies Born With Down Syndrome
2014
Previous studies have shown that over 40% of babies with Down syndrome have a major cardiac anomaly and are more likely to have other major congenital anomalies. Since 2000, many countries in Europe have introduced national antenatal screening programs for Down syndrome. This study aimed to determine if the introduction of these screening programs and the subsequent termination of prenatally detected pregnancies were associated with any decline in the prevalence of additional anomalies in babies born with Down syndrome. The study sample consisted of 7,044 live births and fetal deaths with Down syndrome registered in 28 European population-based congenital anomaly registries covering seven m…
Effects of cardiopulmonary rehabilitation on the muscle function of children with Congenital Heart Disease : a prospective cohort study
2021
Critical medical and surgical advances have led to a shift in the care and management of children with congenital heart disease (CHD). These patients present with muscle deconditioning, which negatively influences their response to exercise, functional capacities, and quality of life. This study evaluates the influence of a cardiopulmonary rehabilitation program (CPRP) on the function of peripheral musculature of children with CHD. A single-center prospective cohort study was designed. Fifteen CHD subjects, between 12 and 16 years of age, with reduced aerobic capacity on a cardiopulmonary exercise test, were included in a three-month, 24-session CPRP. Measurements of the subjects’ handgrip …
Genetic syndrome suspicion: examples of clinical approach in the neonatal unit.
2010
Overgrowth syndromes: the practical clinical approach. Excessive growth can be present in a variety of medical conditions as result of abnormal fetal metabolism (i.e., maternal gestational diabetes) or of an overgrowth syndrome. Within this latter group of diseases, a LGA newborn requires a complex differential diagnosis encompassing several syndromes, such as Beckwith-Wiedemman, Sotos, Weaver, Simpson-Golabi-Behmel, Perlman, and Bannayan-Riley-Ruvalcaba. Partial or global overgrowth, other dysmorphisms, abdominal organs anomalies, as well as benign and malignant tumors are the common issues to examine for the diagnosis and the monitoring of all these disorders. The molecular bases of these…
The Association of H1N1 Pandemic Influenza with Congenital Anomaly Prevalence in Europe
2015
BACKGROUND: In the context of the European Surveillance of Congenital Anomalies (EUROCAT) surveillance response to the 2009 influenza pandemic, we sought to establish whether there was a detectable increase of congenital anomaly prevalence among pregnancies exposed to influenza seasons in general, and whether any increase was greater during the 2009 pandemic than during other seasons.METHODS: We performed an ecologic time series analysis based on 26,967 pregnancies with nonchromosomal congenital anomaly conceived from January 2007 to March 2011, reported by 15 EUROCAT registries. Analysis was performed for EUROCAT-defined anomaly subgroups, divided by whether there was a prior hypothesis of…
AICA-ribosiduria due to ATIC deficiency: Delineation of the phenotype with three novel cases, and long-term update on the first case.
2020
5-Amino-4-imidazolecarboxamide-ribosiduria (AICA)-ribosiduria is an exceedingly rare autosomal recessive condition resulting from the disruption of the bifunctional purine biosynthesis protein PURH (ATIC), which catalyzes the last two steps of de novo purine synthesis. It is characterized biochemically by the accumulation of AICA-riboside in urine. AICA-ribosiduria had been reported in only one individual, 15 years ago. In this article, we report three novel cases of AICA-ribosiduria from two independent families, with two novel pathogenic variants in ATIC. We also provide a clinical update on the first patient. Based on the phenotypic features shared by these four patients, we define AICA-…
Progressive symmetric erythro-keratosis associated with oligodontia, severe caries, disturbed hair growth and ectopic nail: a new syndrome?
2008
A 7-year-old girl had well-demarcated erythematous plaques covered with white pityriasiform scales which were symmetrically distributed and involved the extensor surfaces of the extremities as well as the abdomen, buttocks and face. Histological examination showed marked hyperkeratosis with parakeratosis, and a thickened granular cell layer, mild acanthosis and slight lymphocytic infiltration surrounding the papillary blood vessels, compatible with a diagnosis of progressive symmetrical erythrokeratodermia. Remarkably, a keratotic excrescence similar to a normal nail plate involved the tip of the nose since the age of 6 months. Moreover, occipital hairlessness, oligodontia and severe caries…
An Unexplained Congenital Disorder of Glycosylation-II in a Child with Neurohepatic Involvement, Hypercholesterolemia and Hypoceruloplasminemia
2017
We report on a 12-year-old adopted boy with psychomotor disability, absence seizures, and normal brain MRI. He showed increased (but initially, at 5 months, normal) serum cholesterol, increased alkaline phosphatases, transiently increased transaminases and hypoceruloplasminemia with normal serum and urinary copper. Blood levels of immunoglobulins, haptoglobin, antithrombin, and factor XI were normal. A type 2 serum transferrin isoelectrofocusing and hypoglycosylation of apoCIII pointed to a combined N- and O-glycosylation defect. Neither CDG panel analysis with 79 CDG-related genes, nor whole exome sequencing revealed the cause of this CDG. Whole genome sequencing was not performed since th…