Familial Occurrence of Atretic Cephaloceles

Martínez‐Lage, Juan F.; A, Robledo; Poza, Máximo; Sola, Joaquı́n

doi:10.1159/000121136

Cited by 17 publications

(13 citation statements)

References 13 publications

(22 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…In the literature, Jalali et al [24] characterized this condition as autosomal dominant Dandy-Walker with occipital cephalocele. Three other autosomal dominant Dandy-Walker with occipital cephalocele families have also been reported from Brazil, Spain, and China [25,26,27]. …”

Section: Discussionmentioning

confidence: 99%

Cephalocele: Report of 55 Cases over 8 Years

et al. 2009

View full text Add to dashboard Cite

Objective: Cephalocele is a central nervous system (CNS) birth defect. Various CNS and extra-CNS anomalies, as well as prognostic factors have been reported with cephalocele. The aim of this study was to discuss prognostic factors and current possible theories explaining associated anomalies seen in a series of 55 patients with cephalocele. Methods: A retrospective study was performed using the records of 55 children with cephalocele at the Children’s Hospital Medical Center in Tehran, Iran, from October 2000 through October 2008. Patients’ sex, age at the operation time, characteristics of the lesion including location, size, cerebrospinal fluid leakage, radiological assessments and intraoperative findings (sac contents), intracranial and extracranial associated anomalies, and the last situation of the children were reviewed. Conclusion: A genetic role can be proposed while a female predominance is seen in our results as well as in other reports. CNS and extra-CNS anomalies, as well as several genetic syndromes are not explicable as a causal consequence of cephalocele and the probability of a mere coincidence cannot be ruled out; therefore, we propose that the combination of these anomalies is rather a low-frequency association. Ventriculomegaly was the only poor prognostic determinant in our study, which can compel more severe neuroradiologic studies in such patients as a reasonable prognostic evaluation.

show abstract

Section: Discussionmentioning

confidence: 99%

Cephalocele: Report of 55 Cases over 8 Years

et al. 2009

View full text Add to dashboard Cite

show abstract

“…Autosomal dominant Dandy‐Walker malformation and occipital cephalocele (ADDWOC) has been considered part of the Dandy‐Walker spectrum of disorders, and is characterized by variable cerebellar hypoplasia, meningeal anomalies, occipital skull defects, and typically normal neurological development (Barkovich, Millen, & Dobyns, ). ADDWOC is a rare disorder with only a few reported families in the literature (Bassuk, McLone, Bowman, & Kessler, ; Carvalho, Giuliani, Simao, Santos, & Pina‐Neto, ; Ghonge, Kanika, & Poonam, ; Martinez‐Lage, Martinez Robledo, Poza, & Sola, ; Zhao, Chi, Zhao, & Chi, ). The use of next generation sequencing technology has assisted in the identification of nidogen 1 ( NID1 ) as a potentially disease‐causing gene in a family with ADDWOC (Darbro et al, ).…”

Section: Introductionmentioning

confidence: 99%

NID1 variant associated with occipital cephaloceles in a family expressing a spectrum of phenotypes

McNiven

Itō

Hartley

et al. 2019

American J of Med Genetics Pt A

View full text Add to dashboard Cite

Autosomal dominant Dandy-Walker malformation and occipital cephalocele (ADDWOC) is a rare, congenital, and incompletely penetrant malformation that is considered to be part of the Dandy-Walker spectrum of disorders. Affected individuals often present with an occipital cephalocele with a bony skull defect, but typically have normal neurological development. Here, we report on a three-generation family in which individuals have variable phenotypes that are consistent with the ADDWOC spectrum: arachnoid cysts in the proband and his maternal grandfa-

show abstract

“…While the original report of this kindred focused on the atretic cephalocele, our subsequent review of brain imaging in the proband and his aVected second cousin showed Dandy-Walker malformation in addition to the cephalocele. Three other families with autosomal dominant Dandy-Walker malformation and occipital cephaloceles (ADDWOC) have been reported from Brazil, Spain, and China (Carvalho et al 2006;Martinez-Lage et al 1996;Zhao et al 2007), signifying the worldwide occurrence of this heritable disorder. Here, we further characterize the phenotype of the original Vietnamese-American kindred, map the locus to 2q36.1 by genome-wide linkage analysis, and describe an overlapping phenotype in a child with deletion of this region.…”

Section: Introductionmentioning

confidence: 99%

Linkage to chromosome 2q36.1 in autosomal dominant Dandy-Walker malformation with occipital cephalocele and evidence for genetic heterogeneity

et al. 2008

View full text Add to dashboard Cite

We previously reported a Vietnamese-American family with isolated autosomal dominant occipital cephalocele. Upon further neuroimaging studies, we have recharacterized this condition as autosomal dominant Dandy-Walker with occipital cephalocele (ADDWOC). A similar ADDWOC family from Brazil was also recently described. To determine the genetic etiology of ADDWOC, we performed genome-wide linkage analysis on members of the Vietnamese-American and Brazilian pedigrees. Linkage analysis of the Vietnamese-American family identified the ADDWOC causative locus on chromosome 2q36.1 with a multipoint parametric LOD score of 3.3, while haplotype analysis refined the locus to 1.1 Mb. Sequencing of the five known genes in this locus did not identify any protein-altering mutations. However, a terminal deletion of chromosome 2 in a patient with an isolated case of Dandy-Walker malformation also encompassed the 2q36.1 chromosomal region. The Brazilian pedigree did not show linkage to this 2q36.1 region. Taken together, these results demonstrate a locus for ADDWOC on 2q36.1 and also suggest locus heterogeneity for ADDWOC.

show abstract

Familial Occurrence of Atretic Cephaloceles

Cited by 17 publications

References 13 publications

Cephalocele: Report of 55 Cases over 8 Years

Cephalocele: Report of 55 Cases over 8 Years

NID1 variant associated with occipital cephaloceles in a family expressing a spectrum of phenotypes

Linkage to chromosome 2q36.1 in autosomal dominant Dandy-Walker malformation with occipital cephalocele and evidence for genetic heterogeneity

Contact Info

Product

Resources

About