RESUMEN
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. METHODS: In this paper, we describe the molecular (DNA sequencing) and clinical analysis of six children diagnosed with EvC from four different families from the United Arab Emirates (UAE). RESULTS: All the children had the common clinical and radiological features of this syndrome. However, DNA sequence analysis of the genes shown to be involved (EVC and EVC2) revealed a novel splice site mutation (c.2047-1G>T) in intron 13 of EVC2 gene in one family. In addition, we confirm previous mutational analyses that showed a truncating mutation in exon 13 of EVC gene (c.1813C>T; p.Q605X) in the second family and a single nucleotide deletion (c.981delG; p.K327fs) in exon 8 of EVC2 gene in the third family. No mutations in the exons, splice sites or the promoter regions of either gene have been found in the index case of the fourth family who exhibited "EvC-like" features. CONCLUSIONS: Given the small population size of UAE, our data illustrates further the molecular heterogeneity observed in EvC patients and excludes the possibility of a common founder effect for this condition in the UAE reflecting the current ethnic diversity of the country.
Asunto(s)
Síndrome de Ellis-Van Creveld/genética , Síndrome de Ellis-Van Creveld/patología , Mutación/genética , Fenotipo , Secuencia de Bases , Mapeo Cromosómico , Análisis Mutacional de ADN , Genotipo , Humanos , Péptidos y Proteínas de Señalización Intercelular , Proteínas de la Membrana , Datos de Secuencia Molecular , Linaje , Proteínas/genética , Emiratos Árabes UnidosRESUMEN
BACKGROUND: Misplacement of percutaneously inserted central venous catheters (PCVCs) into the paraspinal venous plexus can result in devastating outcomes. Several cases have been reported in the literature together with an explanation of the mechanism. OBJECTIVE: To describe three premature babies with their PCVCs inserted through the left saphenous vein that ended up in the lumbar spinal dural venous plexus. RESULTS: Plain radiographs obtained to check positions showed an unusual 360 degrees curl of the PCVC in the left inguinal area. CONCLUSION: We believe that misplacement of the catheter into the paraspinal venous plexus could be diagnosed with great accuracy if such a curl is seen.