Fluorescent in situ hybridization (FISH) as a diagnostic tool for Williams-Beuren syndrome

Fluorescent in situ hybridization (FISH) with commercial probes covering the elastin gene (ELN) was used to determine the frequency of the 7q11.23 deletion in 18 children clinically diagnosed with Williams-Beuren syndrome (WBS). A de novo deletion was detected in 15 of the children (83%). Diagnostic investigation for WBS started late in childhood (median = 5.8 years). All the children showed facial features typical of the syndrome, mental retardation and developmental delay. Over-friendliness was observed in the majority of cases. Clinodactyly of the 5th finger (n = 13), cardiovascular disease (n = 9), loquacity (n = 9), low birthweight (n = 8), and failure to thrive (n = 9) were observed only in those children with the deletion. Respiratory problems (n = 9), though not previously reported in the literature, was a common finding in the group studied. Our results confirmed that FISH is useful in identifying 7q11.23 deletions in cases of WBS. Clinical manifestations were more evident in the deletion-positive children.

Complete atrioventricular block during renal transplantation in a patient with Alport's syndrome: case report

CONTEXTO: A síndrome de Alport é responsável por aproximadamente 5% dos pacientes com insuficiência renal crônica. Nessa doença, anormalidades no sistema de condução cardíaco são mais freqüentes que na população em geral. OBJETIVO: Relatar caso de síndrome de Alport que desenvolveu bloqueio atrioventricular total durante um transplante renal. RELATO DE CASO: Paciente masculino, 21 anos de idade, com insuficiência renal crônica secundária à síndrome de Alport, foi submetido a transplante renal sob anestesia peridural. Durante o procedimento anestésico-cirúrgico apresentou bloqueio atrioventricular total, que foi tratado rapidamente, e com sucesso, usando-se um marcapasso transcutâneo. O bloqueio simpático extenso pode contribuir para o desenvolvimento de distúrbios no sistema de condução cardíaco, particularmente em pacientes com insuficiência renal crônica em esquema de diálise. Mesmo em pacientes com eletrocardiograma pré-operatório normal e sem distúrbios de condução, graus variáveis de bloqueio atrioventricular, incluindo bloqueio atrioventricular total, podem ocorrer. Nesse caso, o uso de marcapasso transcutâneo é tratamento rápido e efetivo na sala de operação até o final da cirurgia, quando o tratamento definitivo pode ser planejado.

Myelodysplastic syndrome in childhood: report of two cases with deletion of chromosome 4 and the Philadelphia chromosome

We report two pediatric patients with unclassified myelodysplastic syndrome (MDS) by the French-American-British (FAB) group. Both cases had clinical and hematological peculiarities, which had not been described yet. The cytogenetic alterations were 4q deletion and the Philadelphia (Ph) chromosome which appeared at different moments of the disease. One patient showed the Ph chromosome at disease transformation and the other at diagnosis. The different breakpoints at 4q and the presence of Ph could be a marker of this form of MDS. The association of clinical and hematological findings suggests the possibility of a new group of pediatric MDS. (C) 2002 Elsevier B.V. Ltd. All rights reserved.

Ectodermal dysplasia, ectrodactyly, clefting, anophthalmia microphthalmia, and genitourinary anomalies: nosology of goltz-gorlin syndrome versus eec syndrome

We report on two unrelated Brazilian girls born to normal and nonconsanguineous parents and presenting ectodermal dysplasia, ectrodactyly, clefting, tear duct anomalies, and micro/anophthalmia. The clinical picture presented by these patients suggests the diagnosis of Goltz-Gorlin (Focal dermal hypoplasia) syndrome and EEC syndrome.

WORD-FINDING DIFFICULTIES, VERBAL PARAPHASIAS, AND VERBAL DYSPRAXIA IN 10 INDIVIDUALS WITH FRAGILE-X-SYNDROME

Speech/language disorders are common in the fragile X syndrome. [Howard-Peebles, 1979: Am J Hom Genet 31:214-222; Renier et al., 1983: J Ment Defic Res 27:51-59; Sparks, 1984: Birth Defects and Speech-Language Disorders, pp, 39-43; Hanson et al., 1986: Am J Med Genet 23:195-206]. Verbal paraphasias have been considered a rare feature and word-finding difficulties have seldom been reported. Here we report on ten Brazilian patients who were evaluated for speech/language disturbances and found that word-finding difficulties were present in 50% of the cases, which is a slightly higher frequency than that of clear dyspraxia. We suggest, therefore, that word-finding difficulties and verbal dyspraxia can be a common feature within the spectrum of this syndrome. Additional speech findings are discussed. (C) 1995 Wiley-Liss, Inc.