RESUMO
Gingival fibromatosis can be present as an isolated form or be part of a genetic disease. The Zimmermann-Laband syndrome (ZLS) is a rare disorder inherited as an autosomal dominant fashion, clinically characterized by gingival fibromatosis, bulbous soft nose, thick floppy ears, nail dysplasia, joint hyperextensibility, hepatosplenomegaly, skeletal anomalies and occasional mental retardation. We studied a girl aged five years with clinical and radiological features of the ZLS, additionally she presented deafness not previously described in the ZLS, as only partial hearing loss was reported in some patients. The father presented some facial features suggestive of ZLS, nevertheless he did not have gingival fibromatosis or hypertrichosis. We suggest that this case supports that ZLS can be part a contiguous genes syndrome or be consequence ofa gene mutation with wide variable expression. The present report supports that ZLS has a wide clinical spectrum.
Assuntos
Anormalidades Múltiplas , Aberrações Cromossômicas , Anormalidades Craniofaciais , Fibromatose Gengival , Deformidades Congênitas da Mão , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/genética , Criança , Anormalidades Craniofaciais/diagnóstico , Anormalidades Craniofaciais/genética , Surdez/diagnóstico , Surdez/genética , Diagnóstico Diferencial , Feminino , Fibromatose Gengival/diagnóstico , Fibromatose Gengival/genética , Expressão Gênica/genética , Genes Dominantes/genética , Deformidades Congênitas da Mão/diagnóstico , Deformidades Congênitas da Mão/genética , Humanos , FenótipoRESUMO
3p deletion syndrome is a rare disorder involving developmental delay, dysmorphic physical features, and growth retardation. Molecular mapping of several cases in the literature have identified a critical region on chromosome 3p26. We present a child patient with characteristic features of 3p deletion syndrome and a de novo unbalanced translocation involving chromosomes 3 and 13. Fine mapping of this rearrangement using fluorescence in situ hybridization (FISH) and array-based comparative genomic hybridization (aCGH) revealed an unbalanced abnormality including a 4.5 Mb terminal deletion of chromosome 3p, telomeric to ITPR1 on 3p26.2, which was not previously identified with routine cytogenetic analysis. In addition, these investigations confirmed and refined the boundaries of a 26.5 Mb deletion of chromosome 13. This study confirms the minimal candidate region for 3p deletion syndrome, provides further evidence implicating haploinsufficiency of CNTN4 in the disorder, and demonstrates the utility of high-resolution investigations of rare chromosomal rearrangements.
