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81.
82.
Al-Gazali LI Ravenscroft A Feng A Shubbar A Al-Saggaf A Haas D 《Clinical dysmorphology》2003,12(1):1-8
We report three children from two inbred Arab families with Stüve-Wiedemann syndrome who have survived the first year of life (ages are 6 years, 2.8 years and 2 years). All exhibited a characteristic phenotype resembling that described by Chen et al.[(2001). Am J Med Genet 101:240-245]. In all three children the skeletal abnormalities progressed to severe bowing of the long bones with prominent joints and severe spinal deformity. Neurological symptoms were present in all of them. These included temperature instability with excessive sweating, reduced pain sensation with repeated injury to the tongue and limbs, absent corneal reflexes and a smooth tongue. Mentality was normal in all of them. Radiological changes included under tubulation of the diaphyses, rarefaction and striation of metaphyses, destruction of the femoral heads and spinal deformity. We confirm that survival in this syndrome is possible and that the prognosis improves after the first year of life. This should be taken into consideration when counselling parents of affected children. This report further supports the existence of a characteristic phenotype in Stüve-Wiedemann syndrome survivors which include, in addition to the skeletal abnormalities and distinctive radiological features, neurological symptoms reminiscent of dysautonomia. 相似文献
83.
We report four children from four inbred Arab families with varying manifestations of Hennekam syndrome and additional features that have not been previously reported. These include abnormalities of the middle ear, anomalous pulmonary venous drainage, interrupted inferior vena cava, polysplenia, crossed renal ectopia, median position of the liver and multiple cavernous haemangiomas. In addition, in one case lymphoedema was absent and oedema due to hypoproteinaemia appeared at 6 years of age. Since anomalies of the veins and the consequent developmental abnormalities of the lymphatics might lead to alterations in the fluid balance of the embryo, we hypothesize that altered fluid dynamics due to defective vascular and lymphatic development might disrupt critical events in craniofacial morphogenesis resulting in Hennekam syndrome. 相似文献
84.
Abdulrazzaq YM Al-Gazali LI Bener A Hossein M Verghese M Dawodu A Padmanabhan R 《Reproductive toxicology (Elmsford, N.Y.)》2003,17(2):171-176
OBJECTIVE: The aim of this study was to determine the level of knowledge and use of periconceptional folic acid supplementation in a sample of postpartum women recruited from three hospitals. DESIGN: Cross-sectional survey in which a structured questionnaire was used in a face-to-face encounter between the subject and a trained nurse. SETTINGS: Two teaching hospitals associated with Faculty of Medicine and Health Sciences and one private hospital. SUBJECTS: Postpartum women in the three hospitals were recruited during a 40-day period in November 1999. Women who did not agree to participate, had complicated labor, delivered babies with congenital malformations, or were too exhausted or difficult to examine, were excluded. RESULTS: Univariate analyses showed that overall 46.4% of the respondents had heard about folic acid and only 8.7% knew that it prevented birth defects. 45.5% of respondents took folic acid in the first trimester. The percentage of women who had ever heard about folic acid was higher in those with higher education, and those who were not UAE nationals. Use of folic acid was associated with non-UAE nationality. CONCLUSION: Awareness of the value of periconceptional folic acid was very low and use of folic acid was less prevalent among women of UAE nationality. 相似文献
85.
We report a baby with severe micromelic dwarfism characterized by severe shortening of the humeri, femora and tibiae with hypoplastic radii, ulnae and fibulae which are of normal shape. We suggest that this case is similar to the case reported by Baxova et al [(1993), Paediatr Radiol 23:446-449] confirming the identity of this new bone dysplasia. 相似文献
86.
Abnormal folate metabolism and genetic polymorphism of the folate pathway in a child with Down syndrome and neural tube defect 总被引:7,自引:0,他引:7
Al-Gazali LI Padmanabhan R Melnyk S Yi P Pogribny IP Pogribna M Bakir M Hamid ZA Abdulrazzaq Y Dawodu A James SJ 《American journal of medical genetics》2001,103(2):128-132
The association of neural tube defects (NTDs) with Down syndrome (trisomy 21) and altered folate metabolism in both mother and affected offspring provide a unique opportunity for insight into the etiologic role of folate deficiency in these congenital anomalies. We describe here the case of a male child with trisomy 21, cervical meningomyelocele, agenesis of corpus callosum, hydrocephaly, cerebellar herniation into the foramen magnum, and shallow posterior cranial fossa. Molecular analysis of the methylenetetrahydrofolate (MTHFR) gene revealed homozygosity for the mutant 677C-->T polymorphism in both the mother and child. The plasma homocysteine of the mother was highly elevated at 25.0 micromol/L and was associated with a low methionine level of 22.1 micromol/L. Her S-adenosylhomocysteine (SAH) level was three times that of reference normal women, resulting in a markedly reduced ratio of S-adenosylmethionine (SAM) to SAH and significant DNA hypomethylation in lymphocytes. The child had low plasma levels of both homocysteine and methionine and a reduced SAM/SAH ratio that was also associated with lymphocyte DNA hypomethylation. In addition, the child had a five-fold increase in cystathionine level relative to normal children, consistent with over-expression of the cystathionine beta synthase gene present on chromosome 21. We suggest that altered folate status plus homozygous mutation in the MTHFR gene in the mother could promote chromosomal instability and meiotic non-disjunction resulting in trisomy 21. Altered folate status and homozygous TT mutation in the MTHFR gene in both mother and child would be expected to increase the risk of neural tube defects. The presence of both trisomy 21 and postclosure NTD in the same child supports the need for an extended periconceptional period of maternal folate supplementation to achieve greater preventive effects for both NTD and trisomy 21. 相似文献
87.
Identification of a locus for a form of spondyloepiphyseal dysplasia on chromosome 15q26.1: exclusion of aggrecan as a candidate gene 总被引:1,自引:0,他引:1
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Eyre S Roby P Wolstencroft K Spreckley K Aspinwall R Bayoumi R Al-Gazali L Ramesar R Beighton P Wallis G 《Journal of medical genetics》2002,39(9):634-638
We have investigated a family with an autosomal dominant form of spondyloepiphyseal dysplasia (SED) characterised by short stature and severe premature degenerative arthropathy. Previous studies have excluded linkage between this condition and the locus for the type II collagen gene. Here we report the identification of linkage between this disorder and a locus on the long arm of chromosome 15 between markers D15S979 and D15S1004. According to current linkage maps and sequence data, this locus includes that of the aggrecan gene (AGC1). Our linkage data from the SED family show, however, that AGC1 maps to a locus that is proximal to D15S979. This proximal location for AGC1 is further supported by linkage data from a second family with an autosomal recessive form of multiple epiphyseal dysplasia that also maps to the SED locus. In both families AGC1 is therefore excluded as a candidate gene. 相似文献
88.
Organisation of the human PAX4 gene and its exclusion as a candidate for the Wolcott-Rallison syndrome.
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D T Bonthron N Dunlop D G Barr A A El Sanousi L I Al-Gazali 《Journal of medical genetics》1998,35(4):288-292
Neonatal diabetes mellitus is a rare condition, the causes of which are mostly unknown. One well defined though very rare entity is the autosomal recessive Wolcott-Rallison syndrome, in which permanent neonatal diabetes, osteopenia, and epiphyseal dysplasia occur. Only five previous families have been reported, and here we describe the second in which parental consanguinity was present. The proband was born to first cousin parents and died at 2 years from the sequelae of poorly controlled diabetes. To test the hypothesis that mutation of PAX4, required in the mouse for pancreatic islet beta cell development, might cause WRS, the structure of the human PAX4 gene was deduced and DNA from two unrelated WRS patients sequenced. No PAX4 mutation was present, though the entire coding region was sequenced in both patients. It therefore appears unlikely that PAX4 is involved in the aetiology of Wolcott-Rallison syndrome, though it remains a good candidate for other forms of neonatal diabetes mellitus. 相似文献
89.
Bassam R Ali Nadia A Akawi Faris Chedid Mahmood Bakir Moghis Ur Rehman Aiman Rahmani Lihadh Al-Gazali 《BMC medical genetics》2010,11(1):33
Background
Ellis-van Creveld (EvC) syndrome is an autosomal recessive chondrodysplastic condition with clinical manifestations that include short-limbs and ribs, postaxial polydactyly and dysplastic nails and teeth. In about two thirds of patients, mutations in either EVC or EVC2 genes have been found to be the underlying cause. 相似文献90.