RESUMO
Taybi-Linder syndrome (TALS, OMIM 210710) is a rare autosomal recessive disorder belonging to the group of microcephalic osteodysplastic primordial dwarfisms (MOPD). This syndrome is characterized by short stature, skeletal anomalies, severe microcephaly with brain malformations and facial dysmorphism, and is caused by mutations in RNU4ATAC. RNU4ATAC is transcribed into a non-coding small nuclear RNA which is a critical component of the minor spliceosome. We report here four foetuses and four unrelated patients with RNU4ATAC mutations. We provide antenatal descriptions of this rare syndrome including unusual features found in two twin foetuses with compound heterozygosity for two rare mutations who presented with mild intrauterine growth retardation and atypical dysmorphic facial features. We also carried out a literature review of the patients described up to now with RNU4ATAC mutations, affected either with TALS or Roifman syndrome, a recently described allelic disorder.
Assuntos
Anormalidades Múltiplas/genética , Cardiomiopatias/genética , Nanismo/genética , Retardo do Crescimento Fetal/genética , Síndromes de Imunodeficiência/genética , Deficiência Intelectual Ligada ao Cromossomo X/genética , Microcefalia/genética , Osteocondrodisplasias/genética , RNA Nuclear Pequeno/genética , Doenças Retinianas/genética , Anormalidades Múltiplas/fisiopatologia , Alelos , Cardiomiopatias/fisiopatologia , Criança , Pré-Escolar , Nanismo/fisiopatologia , Feminino , Retardo do Crescimento Fetal/fisiopatologia , Feto , Humanos , Síndromes de Imunodeficiência/fisiopatologia , Lactente , Recém-Nascido , Masculino , Deficiência Intelectual Ligada ao Cromossomo X/fisiopatologia , Microcefalia/fisiopatologia , Mutação , Osteocondrodisplasias/fisiopatologia , Fenótipo , Doenças da Imunodeficiência Primária , Doenças Retinianas/fisiopatologia , Spliceossomos/genéticaRESUMO
OBJECTIVES: The aim of the study was to assess the immediate and intermediate outcomes of stent therapy for coarctation or recoarctation of the aorta. SETTING: Tertiary referral centres. METHODS: A case review of all patients who have undergone stent implantation for coarctation of aorta in the Netherlands and Belgium. RESULTS: Stents were implanted in 33 patients (mean age 21±16 years) and successful outcome occurred acutely in 32 of these 33 patients. Peak systolic blood pressure decreased from 149±37 to 124±24 mmHg. The pressure gradient decreased from 37±16 to 7±7 mmHg. The diameter of the coarctation segment increased from 7.3±3.8 to 13.3±3.9 mm. Three patients had major complications and three had minor complications. During a mean follow-up of 21±17 months recoarctation was found in ten patients, seven of whom have undergone further procedures. There were no deaths at follow-up. CONCLUSIONS: Stent implantation is a good alternative to balloon dilation in selected patients with coarctation of the aorta. However, follow-up evaluation reveals a varying incidence of recoarctation and the long-term outcomes need to be determined.