Ocorrência familiar de impressão basilar

Silva, José Alberto Gonçalves da; Silva, E. Barros da; Souza, Maricêlia B.Rodrigues de

doi:10.1590/s0004-282x1978000300007

Cited by 2 publications

(1 citation statement)

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“…In this family it is possible that platybasia is the primary, possibly inherited, abnormality and that varying degrees of CMI±S have been able to develop in association with it. Familial platybasia has been described in several previous case reports [32,33,34] and in association with CMI and is thought to have autosomal dominant inheritance [23, 35]. Platybasia is a recognised feature of a number of genetic conditions such as osteogenesis imperfecta [36, 37], although there are no features of this condition in the family we describe.…”

Section: Discussionmentioning

confidence: 57%

Three Sisters with Chiari I Malformation with and without Associated Syringomyelia

Weisfeld-Adams

Carter²,

Likeman³

et al. 2007

Pediatr Neurosurg

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Two daughters of non-consanguineous Ashkenazi Jewish parentage presented with occipital headaches in the second decade of life. Each had a symptomatic Chiari I malformation (CMI) and a large cervicothoracic syrinx. A third sister was diagnosed as having CMI without syrinx after MR screening of first-degree relatives. A fourth (the eldest) sister was asymptomatic and did not have CMI or syrinx. The girls’ mother had platybasia on screening MR and a history of cough headaches. All four sisters also had demonstrable platybasic features on MR. The girls’ father was asymptomatic and radiologically normal. This family represents the first reported case of three siblings in one family with confirmed CMI with or without syrinx. We discuss the possible genetic and mechanical mechanisms for the development of these abnormalities in this family.

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Section: Discussionmentioning

confidence: 57%

Three Sisters with Chiari I Malformation with and without Associated Syringomyelia

Weisfeld-Adams

Carter²,

Likeman³

et al. 2007

Pediatr Neurosurg

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Information on familial cases of syringomyelia, basilar impression, and Chiari malformation

Krupina

2001

Neurology bulletin

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The presence of familial cases of syringomyelia, basilar impression (intussusception) and Chiari malformation (MC) indicates the role of heredity in the occurrence of these diseases. Studies by a number of authors [32, 44] show that the primary pathology in this case is bone anomalies of the craniovertebral region (CVR), which contribute to the formation of the posterior cranial fossa (PCF) of reduced volume. As a result of this, the caudal parts of the cerebellum and the medulla oblongata descend through the foramen magnum (foramen magnum), i.e. formation of type I MC. In the presence of bone anomalies of KVO and MV type I, in some cases, a violation of CSF dynamics can occur at the level of the BVO, which will lead to the development and progression of syringomyelia. CVD abnormalities are, in turn, the result of defective development of the cartilaginous tissue of the bones of the skull and adjacent parts of the spine during the first weeks of embryonic development [34, 43]. Such dysembryogenesis may be due to dysfunction of genes that control the formation of the fifth occipital somite in the human body [49]. Literature data on familial cases of syringomyelia, basilar impression and MC confirm their common heredity basis.

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Ocorrência familiar de impressão basilar

Cited by 2 publications

References 1 publication

Three Sisters with Chiari I Malformation with and without Associated Syringomyelia

Three Sisters with Chiari I Malformation with and without Associated Syringomyelia

Information on familial cases of syringomyelia, basilar impression, and Chiari malformation

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