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PubMed2006

Otopalatodigital syndrome spectrum disorders: otopalatodigital syndrome types 1 and 2, frontometaphyseal dysplasia and Melnick-Needles syndrome.

The term otopalatodigital syndrome spectrum disorders is an umbrella category that includes four phenotypically related conditions, otopalatodigital syndrome types 1 and 2, frontometaphyseal dysplasia and Melnick - Needles syndrome. The phenotype of these conditions in the male ranges from a severe perinatally lethal multiple malformation syndrome to a mild skeletal dysplasia. Most, but not all, instances of these conditions are associated by mutations in the X-linked gene encoding the cytoskeletal protein filamin A. Mutations in this gene are clustered, exhibit a strong genotype-phenotype correlation and are presumed to exert their effect by a gain-of-function mechanism.

Abnormalities, Multiple↗
PubMed2002

An autosomal recessive syndrome of choanal atresia, hypothelia/athelia and thyroid gland anomalies overlapping bamforth syndrome, ANOTHER syndrome and methimazole embryopathy.

Two sibs from an inbred Arab family are described with an autosomal syndrome of choanal atresia, hypothelia/athelia and thyroid gland anomalies overlapping Bamforth syndrome, ANOTHER syndrome and methimazole embryopathy. In one case the syndrome described was lethal. Cases with similar features are reviewed and genetic mutations discussed.

Abnormalities, Multiple↗
PubMed2005

[Klinefelter's syndrome associated with mixed connective tissue disease (Sharp's syndrome) and thrombophilia with postthrombotic syndrome].

A 43-year-old male with eunuchoid body proportions and a history of deep venous thromboses in the right leg presented with recurrent ulcers in the right perimalleolar region for 6 years. Karyotyping revealed a 47 XXY Klinefelter's syndrome, while serologic testing showed protein S deficiency, hyperhomocysteinemia and positive lupus anticoagulant. He also had mixed connective tissue disease (Sharp's syndrome) with acrosclerosis, proximal finger edema, Raynaud's phenomenon, and high titers of ANA and U1-RNP-antibodies, as well as osteoporosis. There is evidence that patients with Klinefelter's syndrome are prone to develop connective tissue diseases and thrombophilia as a result of low androgen levels. Substitution of testosterone in Klinefelter's syndrome can have a favorable therapeutic effect on the associated connective tissue disease, thrombophilia and osteoporosis.

Adult↗
PubMed1977

Sjogren's syndrome in SLE: Part 2. An examination of the clinical significance of Sjogren's syndrome by comparison of its frequency in typical and atypical forms of SLE, overlap syndromes and scleroderma.

The clinical features of Sjogren's syndrome were found in 24 percent of Glasgow patients with SLE without other atypical features. Sjogren's syndrome was found in one (13 percent) of a group of eight patients with features of both SLE and scleroderma, one of three patients with features of both polymyositis and scleroderma and in three of 12 (25 percent) patients with scleroderma. The highest frequency of Sjogren's syndrome was seen in six patients with features of SLE and an erosive polyarthritis, five of whom (83 percent) had Sjogren's syndrome. In patients satisfying diagnostic criteria for SLE no relationship between the presence of Sjogren's and the presence or absence of renal disease was found.

Adolescent↗
PubMed1988

[Variable expression of an autosomal dominant syndrome: (BBB syndrome or G syndrome)].

We report a family in which Opitz-Frias G syndrome is expressed across 4 generations. The propositus displays hypertelorism, low grade hypospadias, cleft palate and lips and cleft larynx, making the diagnosis of G syndrome very likely. A cousin of his mother discloses similar clefts, vulviform hypospadias, anal imperforation and mental retardation. His clinical appearance fits perfectly the diagnosis of BBB syndrome. A nephew shows ambiguous genitalia and hypertelorism. Authors suggest the lumping of the BBB and the G syndrome.

Abnormalities, Multiple↗
PubMed1986

Cotard's syndrome in a patient with coexistent Capgras' syndrome, syndrome of subjective doubles, and palinopsia.

The hallmark of Cotard's syndrome is the delusion of being dead. It is usually seen in affective disorders, and its existence as a separate entity is controversial. A patient is described who presented with paranoid schizophrenia, Cotard's syndrome, the misidentification syndromes of Capgras and subjective doubles, and palinopsia (visual perseveration). Focal theories for these conditions are briefly outlined and the patient is discussed with reference to them. It is proposed that this case supports the concept that Cotard's syndrome is a distinct disorder. The possibility of cerebral dysfunction in the confluence of the parietal, temporal, and occipital regions accounting for this specific clinical presentation is considered.

Adult↗
PubMed1997

Atypical skeletal changes in otopalatodigital syndrome type II: phenotypic overlap among otopalatodigital syndrome type II, boomerang dysplasia, atelosteogenesis type I and type III, and lethal male phenotype of Melnick-Needles syndrome.

We report on 2 cases of otopalatodigital syndrome type II (OPD II) with atypical skeletal changes, overlapping those of boomerang dysplasia, atelosteogenesis type I (AO I) and type III (AO III), and the lethal male phenotype of Melnick-Needles syndrome. One patient exhibited strikingly broad, bowed femora, which resembled those of boomerang dysplasia. The other patient possessed conspicuous undertubulation of the long bones, defective ossification of the spine, and severe undermineralization of the calvaria, which may have caused diagnostic confusion with AO I, AO III, and the lethal male phenotype of Melnick-Needles syndrome. OPD II is transmitted as an X-linked recessive trait, whereas AO I, AO III, and boomerang dysplasia are considered to result from a new dominant mutation, and Melnick-Needles syndrome is inherited as an X-linked dominant trait. Accordingly, differential diagnosis is mandatory to provide the affected families with adequate genetic counseling. Awareness of these skeletal changes in OPD II will prevent the misdiagnosis of this entity as other disorders. Furthermore, the phenotypic overlap among these disorders may expand the entities that constitute the OPD-Larsen dysplasia family proposed by Spranger [1985].

Abnormalities, Multiple↗
PubMed2000

Continuous distending airway pressure for respiratory distress syndrome in preterm infants.

BACKGROUND: Respiratory distress syndrome (RDS) is the single most important cause of morbidity and mortality in preterm infants (Greenough 1998, Bancalari 1992). Intermittent positive pressure ventilation (IPPV) with surfactant is the standard treatment for the condition. The major difficulty with IPPV is that it is invasive, resulting in airway and lung injury and contributing to the development of chronic lung disease. OBJECTIVES: In spontaneously breathing preterm infants with RDS, to determine if continuous distending airway pressure (CDAP) reduces the need for IPPV and associated morbidity without adverse effects. SEARCH STRATEGY: The standard search strategy of the Neonatal Review group was used. This included searches of the Oxford Database of Perinatal Trials, Cochrane Controlled Trials Register, MEDLINE, previous reviews including cross references, abstracts, conference and symposia proceedings, expert informants, journal hand searching mainly in the English language. SELECTION CRITERIA: All trials using random or quasi-random patient allocation of newborn infants with RDS were eligible. Interventions were continuous distending airway pressure including continuous positive airway pressure (CPAP) by mask, nasal prong, nasopharnygeal tube, or endotracheal tube, or continuous negative pressure (CNDP) via a chamber enclosing the thorax and lower body, compared with standard care. DATA COLLECTION AND ANALYSIS: Standard methods of the Cochrane Collaboration and its Neonatal Review Group, including independent assessment of trial quality and extraction of data by each author, were used. MAIN RESULTS: CDAP is associated with a lower rate of failed treatment (death or use of assisted ventilation), overall mortality, and mortality in infants with birthweights above 1500 g. The use of CDAP is associated with an increased rate of pneumothorax. REVIEWER'S CONCLUSIONS: In preterm infants with RDS the application of CDAP either as CPAP or CNDP is associated with some benefits, particularly in infants with birthweights over 1500 gms. The extent of this benefit is difficult to assess given the outdated methods to administer CDAP, low use of antenatal corticosteroids, non-availability of surfactant and the intensive care setting of the 1970's in which these trials were done. Where resources are limited, such as in developing countries, CPAP for RDS may have a clinical role. Further research is required to determine the best mode of administration and its role in modern intensive care settings

Humans↗
PubMed2006

The risk factor association syndrome as a barisystemic syndrome: a view on obesity and the metabolic syndrome.

A number of factors are known to be associated to an increased risk of cardiovascular disease. High blood pressure, lipid abnormalities, type 2 diabetes mellitus, obesity and sleep apnea may act as isolated risk factors but, frequently, coexist in the same person. Studies involving surgery aimed at weight reduction (bariatric surgery - from barys, the greek term for heavy) have consistently shown a high probability of resolution of major risk factors, namely of diabetes, hyperlipidemia and hypertension, associated to weight reduction. Data in a similar direction were obtained after weight reduction was reached by means of pharmacological therapy. Excessive weight thus may stand as the probable cause for a number of cardiovascular risk factors, at least in many patients with an adequate genetic background. The moment may have come to focus on causality and to suggest that the risk factor association syndrome, in patients with overweight/obesity, may be defined as the systemic consequences of excessive weight, including hormonal, body habitus, metabolic, hemodynamic and respiratory parameters. A suitable name for the syndrome might be the barisystemic syndrome.

Bariatric Surgery↗
PubMed2001

[Maternal stress among mothers of children with Williams-Beuren syndrome, Down's syndrome and mental retardation of non-syndromal etiology in comparison to mothers of non-disabled children].

OBJECTIVES: This study assesses the quantity of stress in mothers of children with mental retardation of different etiologies (Williams Syndrome--WS, Down Syndrome--DS, mental retardation of different etiologies--MR) and in mothers of non-disabled children (MA). METHODS: 85 mothers were asked to complete the Parenting Stress Index (PSI) and the Child Behavior Checklist (CBCL). The groups were matched according to the children's age, sex, and verbal comprehension as assessed by the WISC-R. Data on the child's mental age (WISC-R) and the family's socio-economic level were collected. RESULTS: Significant differences were found in the Child Domain, but not in the Parent Domain of the PSI. According to the Child Domain, mothers of children with WS and DS scored significantly higher on the acceptance and demandingness scales, while mothers of children with MR scored higher on the acceptance scale than did mothers of children with MA. Moreover mothers of children with WS displayed the highest scores on the hyperactivity, mood and adaptability scales. Groups did not differ on the level of experienced reinforcement from their child. No significant differences were found in the Parent Domain according to the subscales attachment and social isolation. Mothers of children with DS scored higher than the other groups on the scales: depression, sense of competence and parent health. Mothers of children with MR scored lower on restriction of their role as a parent and relationship to their spouse. The degree of the children's mental retardation as well as conspicuous behavior correlated positively with maternal stress but not the familial socio-economic level or the age of the children. CONCLUSIONS: Generally, mothers of children with mental retardation, regardless of its etiology, find it more difficult to accept their child than do mothers of non-disabled children. Specific behavior problems associated with the behavioral phenotype of a syndrome also influence the level of maternal stress.

Adolescent↗
PubMed2001

[A case of combined paraneoplastic neurological syndrome, with Lambert-Eaton myasthenic syndrome manifesting as severe respiratory failure, and anti-Hu syndrome].

A 63-year-old man complained of rapidly progressive respiratory failure, requiring a control respiration. He subsequently, presented with muscle weakness involving the neck and all the extremities, superimposed by painful paresthesia. He was proven to carry small-cell lung cancer (SCLC). Neurophysiological examinations revealed the waxing phenomenon at 30 Hz repetitive motor nerve stimulation. Positive serum autoantibodies were detected to voltage-gated calcium channel and Hu proteins. He received diagnosis of combined Lambert-Eaton myasthenic syndrome (LEMS) and anti-Hu syndrome. The initial chemotherapy for SCC alleviated his respiratory and neurological symptoms. But he developed multiple cranial palsies and fatal respiratory distress two months later. There is only a few reports about LEMS complicated by respiratory failure as an initial presentation. Various clinical manifestations including respiratory failure at the onset could be best explained by the combination of LEMS and anti-Hu syndrome in this case.

Antibodies, Antinuclear↗
PubMed2006

Prevalence of Angelman syndrome and Prader-Willi syndrome in Estonian children: sister syndromes not equally represented.

In 2000-2004, we performed a focused search for individuals with Angelman syndrome (AS) and Prader-Willi syndrome (PWS) aiming to establish the prevalence data for the individuals born between 1984 and 2004 in Estonia. All persons with probable AS or PWS (n = 184) were studied using the DNA methylation test. Individuals with abnormal methylation were all further tested by chromosomal and FISH analysis, and if necessary for uniparental disomy and UBE3A gene mutation. Nineteen cases with abnormal methylation test result were identified. Seven of them had AS, including six (85.7%) due to 15q11-13 deletion and one paternal UPD15. Twelve subjects had PWS: 4 (33%) 15q11-13 deletions, 6 (50%) maternal UPD15, 1 unbalanced chromosome 14;15 translocation resulting in a chromosome 15pter-q13 deletion, and 1 Robertsonian 15q;15q translocation. The minimum livebirth prevalence in 1984-2004 for AS was 1:52,181 (95% CI 1:25,326-1:1,29,785) and for PWS 1:30,439 (95% CI 1:17,425-1:58,908). The livebirth prevalence of AS and PWS increased within this period, but the change was statistically significant only for PWS (P = 0.032), from expected 1:88,495 (95% CI 1:24,390-1:3,22,580) to expected 1:12,547 (95% CI 1:540-1:29,154). Six individuals with AS and 11 with PWS were alive on the prevalence day (January 1, 2005), indicating the point prevalence proportion of 1:56,112 (95% CI 1:25,780-1:1,52,899) and 1:30,606 (95% CI 1:17,105-1:61,311), respectively. Our results showing the birth prevalence of AS 1.7 times less than PWS challenge the opinion that both syndromes are equally represented, and are in line with the view that mutations in sperm and oocytes occur at different frequencies.

Angelman Syndrome↗
PubMed1994

Down's syndrome, Edwards' syndrome, Patau's syndrome--synthesis of glycosaminoglycans.

Synthesis of glycosaminoglycans (GAGs) by fibroblasts derived from seven patients with Down's syndrome, five patients with Edwards' syndrome, and two patients with Patau's syndrome were studied in cell culture. The aneuploid strains were compared with diploid fibroblasts from age-matched controls. In terms of hyaluronic acid and sulfated GAG synthesis, the amount of synthesized hyaluronic acid was not significantly different between postnatal aneuploid strains and controls.

Cells, Cultured↗
PubMed2006

A patient with both Gilles de la Tourette's syndrome and chromosome 22q11 deletion syndrome: clue to the genetics of Gilles de la Tourette's syndrome?

This is the first published case description of the association of Gilles de la Tourette's syndrome (GTS) and chromosome 22q11.2 deletion syndrome (22q11DS; previously referred to as CATCH-22 syndrome). The co-occurrence of GTS, 22q11DS, and their behavioral/neuropsychiatric abnormalities may be due to the common endophenotypic mechanisms shared by these disorders, rather than due to specificity for GTS. Research into this genomic region may lead to advancement in neurobehavioral/neuropsychiatric genetics, which will help us in further explicating a broader perspective of gene-brain-behavior interrelationships and of the genetic underpinnings of various developmental psychopathologies and behavioral/neuropsychiatric disorders that are common to both GTS and 22q11DS. Our report should warrant further genetic investigations of the chromosome 22q11.2 deletion site using alternative strategies to the quantitative trait loci endophenotype-based approach, which would be useful for establishing the biological and molecular underpinnings of obsessive-compulsive disorder, attention-deficit/hyperactivity disorder, and GTS.

Adult↗
PubMed1994

Current understanding of severe preeclampsia, pregnancy-associated hemolytic uremic syndrome, thrombotic thrombocytopenic purpura, hemolysis, elevated liver enzymes, and low platelet syndrome, and postpartum acute renal failure: different clinical syndromes or just different names?

Endothelial cell injury, with subsequent vasospasm, platelet activation, unbalanced prostacyclin-thromboxane ratio, and decreased release of endothelium-derived relaxing factor, play a central role in the pathogenesis of several disorders such as preeclampsia, hemolysis, elevated liver enzymes, and low platelet syndrome, thrombotic thrombocytopenic purpura, hemolytic uremic syndrome, acute fatty liver of pregnancy, and acute renal failure. It is possible that all these diseases are part of a spectrum of the same illness. Although the cause remains unknown, the pathophysiology of these diseases is important for an early diagnosis. Differential diagnosis is often difficult due to the overlap of these syndromes. The purpose of this review is to clarify the differences and similarities among these pregnancy-related complications.

Acute Kidney Injury↗
PubMed2006

Are numerical impairments syndrome specific? Evidence from Williams syndrome and Down's syndrome.

BACKGROUND: Several theorists maintain that exact number abilities rely on language-relevant processes whereas approximate number calls on visuo-spatial skills. We chose two genetic disorders, Williams syndrome and Down's syndrome, which differ in their relative abilities in verbal versus spatial skills, to examine this hypothesis. Five experiments assessed number skills in these two genetic syndromes and in their mental age (MA) and chronological age (CA) matched controls. METHODS: Experiment 1 used a preferential looking paradigm with infants and toddlers to measure sensitivity to changes in numerosity. Experiment 2 measured reaction times in older children and adults in a numerosity comparison task with dots in a random pattern. Experiment 3 comprised a number battery that measured various forms of counting and simple arithmetic. RESULTS: The WS infants displayed a level of performance equal to that of their CA-controls, whereas the DS infants failed to reach even the level of their MA-controls. By contrast, the older DS children and adults outstripped the older WS group in their numerosity abilities, with different patterns of errors in the two clinical groups. CONCLUSIONS: Differences in the infant and adult number phenotypes between these two genetic disorders are discussed with reference to the processing styles used by each group and how these might impact on their developmental trajectories. Theoretically, we highlight our contention that one cannot infer the infant starting state from the adult end state. Rather, the development process itself must be taken into account.

Adolescent↗