RESUMO
We present two unrelated cases with a similar pattern of multiple congenital anomalies including limb shortening, long bone angulation, and cervical lymphocele. We believe these cases to represent additional examples of a syndrome first described by Cumming et al. (1986), and by Urioste et al. (1991) and Ming et al. (1997).
Assuntos
Anormalidades Múltiplas/diagnóstico por imagem , Osso e Ossos/anormalidades , Osso e Ossos/diagnóstico por imagem , Doenças Fetais/diagnóstico por imagem , Anormalidades Múltiplas/genética , Osso e Ossos/embriologia , Feminino , Fêmur/patologia , Doenças Fetais/genética , Cardiopatias Congênitas/genética , Humanos , Hidrocefalia/genética , Doenças Renais Policísticas/genética , Radiografia , SíndromeRESUMO
FG syndrome is a rare X-linked recessive form of mental retardation, first described by Opitz and Kaveggia in 1974 in five related males with mental retardation, disproportionately large heads, imperforate anus, and congenital hypotonia. Partial agenesis of the corpus callosum was noted in at least one of the initial cases and has been seen in a number of subsequently-reported cases. The associated congenital hypotonia with joint hyperlaxity tends to progress to contractures with spasticity and unsteady gait in later life. The presence of subtle facial abnormalities and the characteristic behavior in midchildhood facilitate diagnosis at this age, particularly when there are other affected male relatives in the maternal family. Recently, Briault et al. [1997] mapped a gene for FG syndrome to the Xq12-q21.31 region. We describe three additional families (six additional patients) with FG syndrome on whom we have conducted linkage analysis. Our findings support the localization of a gene for the FG syndrome in Xq12-q21. In addition, we have noted skewed X-inactivation in carrier females, as well as new associated findings in affected males of sagittal craniosynostosis and split hand malformation.
Assuntos
Anormalidades Múltiplas/genética , Ligação Genética , Deficiência Intelectual/genética , Cromossomo X , Mecanismo Genético de Compensação de Dose , Fácies , Feminino , Humanos , Recém-Nascido , Masculino , Linhagem , SíndromeRESUMO
With an incidence of 1 in 3,000, neurofibromatosis type 1 (NF1), or von Recklinghausen disease, is one of the most common genetic disorders encountered by primary care physicians. NF1 is a multisystem disease that affects more than one million people worldwide (more than 80,000 in the United States). Although most pediatricians have patients with NF1 in their practices, many affected individuals go undiagnosed as children. This article is intended to facilitate the diagnosis and management of young patients with NF1.
Assuntos
Neurofibromatose 1 , Adulto , Criança , Pré-Escolar , Atenção à Saúde , Diagnóstico Diferencial , Feminino , Genes da Neurofibromatose 1 , Aconselhamento Genético , Humanos , Lactente , Masculino , Neurofibromatose 1/diagnóstico , Neurofibromatose 1/terapia , Gravidez , Diagnóstico Pré-NatalRESUMO
Synthetic oligonucleotides corresponding to a conserved 22 nucleotide sequence within the tandemly repeated mini-exon gene have been used to amplify a single gene-containing repeat from Trypanosoma cruzi and Trypanosoma rangeli, two morphologically similar organisms with overlapping hosts and geographical distribution but different pathogenicity in humans. The T. cruzi repeat is 582 nucleotides long and the T. rangeli repeat is 858 nucleotides. The two organisms may therefore be distinguished primarily by the electrophoretic mobilities of their respective amplification products. Confirmation of the diagnosis can be obtained by Southern blot analysis using species-specific DNA probes from the unique intergenic regions. We also present a diagnostic assay in which the unique intergenic regions are immobilized on nylon membranes and differentiation is based on hybridization with a digoxigenin-labelled PCR product.
