Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0018799 (heart disease)
 34,133 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Sixteen children with anomalies of the auricle and/or middle ear who presented malformations of the face, mouth, upper airway, spine, limbs, heart, gastrointestinal (GI), and/or genitourinary (GU) systems, were described. While clusters of anomalies suggested syndromes such as the oculo-auriculo-vertebral syndrome of Goldenhar, hamifacial microsomia, mandibulo-facial dysostosis (Treacher Collins syndrome), Pierre Robin, Klippel-Feil, Moebius, Duane, and/or VATER syndromes, many children did not fit what are usually considered even minimal criteria for these syndromes. Several children had malformations which fit the description of more than one syndrome. The importance of investigating the children for unsuspected anomalies, especially of the GU system, was emphasized. Life threatening problems in this group consisted of airway problems, congenital heart disease, and major anomalies of the GI and GU systems. Better management of sucking, swallowing and airway problems might have decreased the early morbidity and mortality (3/16) in this group. Children with multiple defacing anomalies may not be mentally retarded so that aggressive management of their visceral anomalies and hearing problems, and early educational intervention are mandatory. Delay in development may be due to hearing loss, vestibular impairment, ataxia, the consequences of early malnutrition, and multiple hospitalizations rather than to mental retardation. A pessimistic attitude in infancy is unwarranted since it is impossible to predict which children will end up competitive individuals.
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PMID:Patterns of anomalies in children with malformed ears. 96 14

An attempt has been made to determine the aetiological factors in infantile idiopathic scoliosis from a clinical, genetic and epidemiological survey of 134 infants, ninety-seven of whom developed a curve in the first six months of life. Plagiocephaly was present in all cases; mental retardation occurred in 13 per cent of males with progressive scoliosis; congenital dislocation of the hip occurred in 3-5 per cent of cases and congenital heart disease in 2-5 per cent; and inguinal hernia was found in 7-4 per cent of males. Approximately 3 per cent of parents and 3 per cent of sibs had the same deformity, thirty times the general population frequency for the Edinburgh area. Other positive findings included an excess of breech presentations and of premature, low birthweight males, and a preponderance of curves developing in the winter months. Infants with progressive scoliosis tended to have older mothers and to come from poorer families. Only three children all with resolving scoliosis, habitually lay prone in early infancy, in marked contrast to North American infants where this posture is usual. The almost complete absence of infantile idiopathic scoliosis in North America is noted and it is thought that the two facts may be related. The aetiology is likely to be multifactorial, with a genetic tendency to the deformity which is either "triggered off" or prevented by external factors.
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PMID:Infantile idiopathic scoliosis. Causative factors, particularly in the first six months of life. 114 Dec 79

Two fourth cousins with a strikingly similar pattern of malformation and who have an unbalanced translocation (46, XY, -17, +t (17p; 10q) are described. From an analysis of the phenotypes of these patients and others reported with 10q trisomy, we propose that the trisomy 10q 24-26 syndrome includes: growth and mental retardation, a characteristic facies (microcephaly, flat face with spacious forehead, small nose, depressed nasal bridge, arched wide-spaced eyebrows, blepharophimosis, microphthalmia, low-set ears, bow-shaped mouth with prominent upper lip, micrognathia), palate anomalies (high-arched cleft or agenesis), congenital heart disease, and anomalies of the hands and feet. Anomalies common to the cousins, but not described in other patients with trisomy 10q, are believed to be expressions of a partial monosomy of 17p.
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PMID:Familial partial trisomy of the long arm of chromosome 10 (q24-26). 119 32

The author comments upon a recent editorial by A. Narang which presented in-depth information upon the present status of neonatal care in India. The author agrees that the neonatal mortality rate should be reduced, but also stresses the importance of rehabilitating survivors of serious neonatal illness now suffering long-term sequelae. Immaturity, birth injury, congenital anomalies, hemolytic diseases among newborns, and conditions of the placenta and the cord are major factors which contribute to the incidence of neonatal mortality. Neonates who survive these illnesses may suffer from long-term morbidity including mental retardation, cerebral palsy, and congenital heart disease. Planners and policymakers need to motivate doctors to care for critically sick neonates by providing adequate rehabilitation mechanisms at the grassroots level for handicapped neonates. Medical personnel must be assured that there will be appropriate long-term care for the surviving infant so that families and society do not have to bear the financial and psychological burdens of rearing handicapped children.
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PMID:Present status of neonatal care in India. 150 Jan

In 1988, birth defects (BD) among 85,170 children aged 0-14 were investigated in eight provinces and cities of China. The overall prevalence rate was 15.13% in urban, 15.40% in rural areas. The prevalence rate of BD was significantly higher in males than in females (16.66% vs 13.70%). The prevalence rate of BD was significantly higher in mothers aged > or = 35 years than in mothers aged < 35. 20 of 82 categories of BD accounted for > or = 1% of all BD. The 3 leading BD were: cutis angioma, congenital heart disease and indirect hernia. The incidence of mental retardation was significantly higher in children with BD than in children without BD.
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PMID:[Epidemiology of birth defects among children in 8 provinces in China]. 133 Feb 31

Trisomy 14 mosaicism produces a distinct phenotype. Among the 13 reported and 2 additional patients, the following findings were present in more than 90%: growth retardation (15/15), psychomotor retardation (10/10), broad nose (13/14), "dysplastic" and/or apparently low-set ears (15/15), micrognathia (15/15), short neck (11/12), congenital heart disease (14/15), and micropenis and cryptorchidism (6/6). Other frequent findings were prominent forehead (12/14), hypertelorism (8/13), narrow palpebral fissure (7/9), large mouth (10/14), cleft or highly arched palate (10/14), body asymmetry (8/12), and abnormal skin pigmentation (6/10). Sex ratio was 6M:9F. Four patients died before age 4 months, while at least 2 patients survived through teens. One boy died at age 3 years following cardiac surgery. One girl with tetralogy of Fallot showed a remarkable improvement in health after Blalock-Taussig procedure. Although the surviving patients showed moderate growth and mental retardation, the oldest surviving woman at 29 years demonstrates functional language and appropriate self help skills.
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PMID:Natural history of mosaic trisomy 14 syndrome. 145 90

Three Down syndrome patients for whom karyotypic analysis showed a "mirror" (reverse tandem) duplication of chromosome 21 were studied by phenotypic, cytogenetic, and molecular methods. On high-resolution R-banding analysis performed in two cases, the size of the fusion 21q22.3 band was apparently less than twice the size of the normal 21q22.3, suggesting a partial deletion of distal 21q. The evaluation of eight chromosome 21 single-copy sequences of the 21q22 region--namely, SOD1, D21S15, D21S42, CRYA1, PFKL, CD18, COL6A1, and S100B--by a slot blot method showed in all three cases a partial deletion of 21q22.3 and partial monosomy. The translocation breakpoints were different in each patient, and in two cases the rearranged chromosome was found to be asymmetrical. The molecular definition of the monosomy 21 in each patient was, respectively, COL6A1-S100B, CD18-S100B, and PFKL-S100B. DNA polymorphism analysis indicated in all cases a homozygosity of the duplicated material. The duplicated region was maternal in two patients and paternal in one patient. These data suggest that the reverse tandem chromosomes did not result from a telomeric fusion between chromosomes 21 but from a translocation between sister chromatids. The phenotypes of these patients did not differ significantly from that of individuals with full trisomy 21, except in one case with large ears with an unfolded helix. The fact that monosomy of distal 21q22.3 in these patients resulted in a phenotype very similar to Down syndrome suggests that the duplication of the genes located in this part of chromosome 21 is not necessary for the pathogenesis of the Down syndrome features observed in these patients, including most of the facial and hand features, muscular hypotonia, cardiopathy of the Fallot tetralogy type, and part of the mental retardation.
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PMID:No significant effect of monosomy for distal 21q22.3 on the Down syndrome phenotype in "mirror" duplications of chromosome 21. 146 8

Down syndrome (DS) is a major cause of congenital heart and gut disease and mental retardation. DS individuals also have characteristic facies, hands, and dermatoglyphics, in addition to abnormalities of the immune system, an increased risk of leukemia, and an Alzheimer-like dementia. Although their molecular basis is unknown, recent work on patients with DS and partial duplications of chromosome 21 has suggested small chromosomal regions located in band q22 that are likely to contain the genes for some of these features. We now extend these analyses to define molecular markers for the congenital heart disease, the duodenal stenosis, and an "overlap" region for the facial and some of the skeletal features. We report the clinical, cytogenetic, and molecular analysis of two patients. The first is DUP21JS, who carries both a partial duplication of chromosome 21, including the region 21q21.1-q22.13, or proximal q22.2, and DS features including duodenal stenosis. Using quantitative Southern blot dosage analysis and 15 DNA sequences unique to chromosome 21, we have defined the molecular extent of the duplication. This includes the region defined by DNA sequences for APP (amyloid precursor protein), SOD1 (CuZn superoxide dismutase), D21S47, SF57, D21S17, D21S55, D21S3, and D21S15 and excludes the regions defined by DNA sequences for D21S16, D21S46, D21S1, D21S19, BCE I (breast cancer estrogen-inducible gene), D21S39, and D21S44. Using similar techniques, we have also defined the region duplicated in the second case occurring in a family carrying a translocation associated with DS and congenital heart disease. This region includes DNA sequences for D21S55 and D21S3 and excludes DNA sequences for D21S47 and D21S17.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Down syndrome: molecular mapping of the congenital heart disease and duodenal stenosis. 153 Nov 66

The longevity of people with Down syndrome being served by the California Department of Developmental Services was examined in terms of a number of variables known to be related to early mortality. The findings indicated that the predictors of survival for people with Down syndrome were not different from the variables related to mortality among people with mental retardation in general. A lack of mobility or feeding skills were better predictors of an early death than were medical problems associated with congenital heart disease. Life expectancy estimates of clients with Down syndrome who lacked mobility or eating skills were found to be poor as compared to individuals who had Down syndrome but did not have these problems regardless of the presence of heart disease.
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PMID:Life expectancy of persons with Down syndrome. 182 73

Two hundred and twenty-one disabled children from seven diagnostic groups have been examined with respect to height, weight and prevalence of four different feeding problems. Retarded growth and feeding problems were common in children with cerebral palsy, mental retardation, congenital heart disease and deaf-blindness, but rare in children with esophagus atresia, cystic fibrosis and epilepsy. Mean relative height and weight were significantly lower (p much less than 0.01) in children with mechanical feeding problems, such as impairment of self-feeding skills and oral-motor dysfunction, than in children without these problems, regardless of diagnostic group. Mean relative weight was also significantly lower in children with poor appetite than in children with good appetite. Feeding problems contribute to short stature and underweight in severely disabled children.
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PMID:Feeding problems, height and weight in different groups of disabled children. 183 17


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