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At least 415 records · Page 23Linked to original sources
PubMed1985

Opitz-Frias syndrome. A case with potentially hazardous anaesthetic implications.

The anaesthetic management is described of a nine-month-old male for surgical palliation of the the functional abnormalities associated with Opitz-Frias syndrome. Features of this syndrome of interest to anaesthetists include recurrent pulmonary aspiration of intestinal contents, achalasia of the oesophagus, subglottic stenosis, hypertelorism, micrognathia and a high arched palate. No previous reports of anaesthesia for patients with this condition have been identified.

Abnormalities, Multiple↗
PubMed1995

Joint dislocation and cerebral anomalies are consistently associated with oral-facial-digital syndrome type IV.

We present a female patient with the oral-facial-digital syndrome type IV. Our report, the tenth in the literature, describes the typical manifestations of the syndrome, combined with malformations and deformations which have not always been described in the previously reported cases. They include cerebral and renal anomalies, anal atresia and dislocation of elbows and knees.

Abnormalities, Multiple↗
PubMed1998

[Simpson-Golabi-Behmel syndrome. A new overgrowth syndrome with increased risk of tumor development].

Simpson-Golabi-Behmel's syndrome is characterized by pre- and postnatal overgrowth, coarse face, visceromegali, congenital anomalies such as heart defects, diaphragmatic hernia and gastrointestinal malformations. Etiology is X-linked inheritance, the causative gene (GPC3) has recently been discovered. Female carriers may have mild symptoms. We report on an eight year old boy with characteristic anomalies and moderately retarded psychomotor development. Differentiating Simpson-Golabi-Behmel's syndrome and other overgrowth syndromes, such as Beckwith-Wiedemann's and Sotos' syndrome can be difficult. Clinical overlap and differences between these three conditions are discussed. The diagnosis of Simpson-Golabi-Behmel's syndrome is important because of increased risk for cardiac arrhytmias and for development of embryonal tumors such as neuroblastoma and Wilms' tumor in early childhood.

Abnormalities, Multiple↗
PubMed1992

Limb anomalies following chorionic villus sampling: a registry based case-control study.

Using data from the Italian Multicentric Birth Defect Registry a case-control study was performed to verify if chorionic villus sampling (CVS) was associated with transverse limb defects (TLD), with or without features of oro-mandibular-limb hypogenesis complex (OMLHC), in the exposed offspring. The results show that the risk of TLD and OMLHC is increased following CVS, and is particularly high for CVS performed early in pregnancy, i.e., under 70 days of gestational age. These results, together with a review of other epidemiologic studies, biological data and clinical reports, strongly suggest a causative role of CVS as a risk factor for TLD and indicate that at this stage CVS before 70 days of gestational age should be discouraged as an option for prenatal diagnosis and that all patients wishing to undergo CVS should be informed about the possible risk of the procedure.

Abnormalities, Multiple↗
PubMed1994

Minor physical anomalies in schizophrenia.

Using the Waldrop scale, minor physical anomalies were studied in 82 Caucasian subjects, including 41 schizophrenic and 8 bipolar adults, as well as 14 normal and 19 mentally retarded adults. An increased incidence of minor physical anomalies was found in the mentally retarded adults relative to the other groups. Consistent with previous studies, there was a trend for the total mean Waldrop score of the schizophrenic group to be higher than the mean score of the normal group. Minor physical anomalies (assessed by the Waldrop scale), however, appear to be of questionable utility in identifying "congenital" schizophrenia, at least as this putative subgroup of schizophrenia is currently conceptualized.

Adolescent↗
PubMed1997

Pitt-Rogers-Danks syndrome and Wolf-Hirschhorn syndrome are caused by a deletion in the same region on chromosome 4p 16.3.

Recently, a deletion of chromosome 4pter was found in three patients with Pitt-Rogers-Danks syndrome. We investigated two of these patients, by means of DNA and FISH studies, together with two additional patients with Pitt-Rogers-Danks syndrome, to determine the critical region of the deletion in these patients and to compare this with the critical region in Wolf-Hirschhorn syndrome. All four patients showed terminal deletions of chromosome 4p of different sizes. One of them appeared to have an unbalanced karyotype caused by a cryptic translocation t(4;8) in the mother, resulting in a deletion of chromosome 4pter and a duplication of chromosome 8pter. The localisation of the Wolf-Hirschhorn critical region has been confined to approximately 1 Mb between D4S43 and D4S115. Our study shows that the deletions in four patients with the Pitt-Rogers-Danks syndrome overlap the Wolf-Hirschhorn critical region and extend beyond this in both directions. This study, combined with the fact that our third patient, who was previously described as a Pitt-Rogers-Danks patient, but who now more closely resembles a Wolf-Hirschhorn patient, makes it likely that Pitt-Rogers-Danks and Wolf-Hirschhorn syndromes are different clinical phenotypes resulting from a deletion in the same microscopic region on chromosome 4p16.

Abnormalities, Multiple↗
PubMed2003

A base-line survey on birth defects in Gansu province, West China.

We report a study to determine the incidence, types and rank order of congenital anomalies and related fetal and infant mortality in Gansu province in China to provide a base-line for an intervention project directed at reducing birth defects in Gansu. Forty-two communities in four counties of Gansu were randomly selected by cluster sampling, based on economic and geographical features of the province. All infants born between 1 January 2001 and 1 January 2002 (live and stillborn) were investigated in departments of gynaecology and obstetrics, in birth control centres and in facilities for women and children in county and community hospitals. The types of birth defect were classified by the diagnostic standardisation ICD-9. The overall incidence of birth defects in Gansu was 15.4/1000 births (102/6621): 6.7/1000 (44) neural tube defects, 4.7/1000 (31) low birthweight infants, 2/1000 (13) limb defects, 0.8/1000 (five) cleft lip and palate and 0.5/1000 (three) Down's syndrome. The infant mortality rate was 14.8/1000 (98), to which birth defects contributed 7.3/1000 (48). We conclude that the incidence of birth defects in Gansu is one of the highest in China, that birth defects are the leading cause of infant mortality and that neural tube defects cause most deaths.

China↗
PubMed1995

Molecular biology experimental strategies for craniofacial-oral-dental dysmorphology.

This paper is a minireview of molecular biology experimental strategies for problems within craniofacial-oral-dental biology. Many of these strategies have already made remarkable contributions towards understanding the complex developmental processes associated with craniofacial biology. For example, the utilization of these strategies has resulted in the successful mapping of approximately 70 genes related to craniofacial anomalies (e.g., Pax, retinoic acid receptors, cadhedrins, aggrecan, cell adhesion molecules, substrate adhesion molecules, etc.), 30 genes related to dental tissue disorders (e.g., BMPs, bone morphogenetic proteins; dentin phosphoproteins, dentin sialoglycoproteins, enamelins, amelogenins), 20 genes related to facial clefting defects (e.g., Hox genes, transforming growth factor alpha), and 3 genes related to craniosynostosis (e.g., Msx-2). This minireview highlights selected examples of scientific progress derived from the following experimental strategies: (i) molecular approaches to the organization of the mouse and human chromosomes, with the mapping of specific gene sequences linked to human diseases (e.g., amelogenesis imperfecta, Boston type craniosynostosis, Rieger's syndrome, Treacher Collins syndrome); (ii) reverse genetic approaches for studies of gene function; (iii) homologous recombinations and the advances from "knock-out" transgenic mouse models for human craniofacial-oral-dental diseases; (iv) mutational analyses of congenital craniofacial-oral-dental dysmorphogenesis; (v) structural biology studies using computer-assisted molecular modeling for protein-protein, protein-nucleic acid and protein-inorganic interactions; (vi) computer modeling of genetic paradigms; and (vii) a cluster of newer methodologies including computer-assisted morphometry, new microinjection techniques, new cell membrane and intracellular dyes, and a number of new RNA and DNA viral constructs for the delivery of genes to enhance the resolution of cell fate maps, cell lineage studies and gene therapy approaches to human diseases.

Animals↗