Rubinstein–Taybi syndrome associated with Chiari type I malformation caused by a large 16p13.3 microdeletion: A contiguous gene syndrome?

Wójcik, Cezary; Volz, Kim; Ranola, Maria; Kitch, Karla; Karim, Tariza; O’Neil, Joseph; Smith, Jodi M.; Torres-Martinez, Wilfredo

doi:10.1002/ajmg.a.33303

Cited by 28 publications

(25 citation statements)

References 29 publications

(38 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Neuroradiological features described so far include reduced WM bulk and callosal dysgenesis, low position of the cerebellar tonsils (Chiari 1) and syringomyelia (23)(24)(25). However the presence of Chiari 1 and syrinx were related to abnormalities of the posterior fossa and of the cranio-vertebral junction, not with a volumetric enlargement of the CB.…”

Section: Discussionmentioning

confidence: 94%

Isolated macrocerebellum: description of six cases and literature review

D’Arco

Ugga

Caranci

et al. 2016

Quant. Imaging Med. Surg.

View full text Add to dashboard Cite

Background: Macrocerebellum is a rare entity described as an isolated and abnormal increase of the cerebellum (CB) size without morphological or signal abnormalities. There have been only eleven patients with macrocerebellum reported in the literature so far. Results and Discussion: Quantitative analysis confirmed an increased cerebellar volume relatively to the STB volume ("t": 6.9518; P<0.001) and to the WB ("t": 7.1415; P<0.001) volume in comparison to the normal controls available in literature. Clinical characteristics and other neuroradiological findings of the patients are described. We also describe the differential features between isolated macrocerebellum and other pathological conditions that are characterized by cerebellar enlargement such as Lhermitte-Duclos, Sotos syndrome, Costello syndrome, Williams syndrome, Alexander disease and fucosidosis. Furthermore a detailed literature review is provided. Macrocerebellum is always associated with an abnormal mental and motor development. Conclusion:Macrocerebellum is a neuroradiological entity that can be identified qualitatively and confirmed quantitatively through volumetric analysis. This is the largest cohort of patients with macrocerebellum described so far. The data available in literature on this entity show that macrocerebellum is not a specific disease but an epiphenomenon found in heterogeneous brain disorders.

show abstract

Section: Discussionmentioning

confidence: 94%

Isolated macrocerebellum: description of six cases and literature review

D’Arco

Ugga

Caranci

et al. 2016

Quant. Imaging Med. Surg.

View full text Add to dashboard Cite

show abstract

“…The subset of families showing maximal evidence for linkage to this region were defined by a large PF height which is positively correlated with the width of the foramen magnum (ρ= 0.19, p-value=0.03). In addition, RSTS and Chiari Malformation have been reported to co-occur (Parsley et al , 2011, Wojcik et al , 2010, Kim et al , 2010). Interestingly, within a morphometrically similar subset of families (large PF height) we observed a slight increase in evidence for linkage to a region containing the related gene, CREBBP (N=8 families, Max LOD=1.9, Δ LOD=1.87, emp p-value=0.05).…”

Section: Discussionmentioning

confidence: 99%

Genetic Evaluation and Application of Posterior Cranial Fossa Traits as Endophenotypes for Chiari Type I Malformation

Markunas

Enterline

Dunlap

et al. 2013

Annals of Human Genetics

View full text Add to dashboard Cite

SUMMARY Chiari Type I Malformation (CMI) is characterized by herniation of the cerebellar tonsils through the base of the skull. Although cerebellar tonsillar herniation (CTH) is hypothesized to result from an underdeveloped posterior cranial fossa (PF), patients are frequently diagnosed by the extent of CTH without cranial morphometric assessment. We recently completed the largest CMI whole genome qualitative linkage screen to date. Despite an initial lack of statistical evidence, stratified analyses using clinical criteria to reduce heterogeneity resulted in a striking increase in evidence for linkage. The present study focused on the use of cranial base morphometrics to further dissect this heterogeneity and increase power to identify disease genes. We characterized the genetic contribution for a series of PF traits and evaluated the use of heritable, disease-relevant PF traits in ordered subset analysis (OSA). Consistent with a genetic hypothesis for CMI, much of the PF morphology was found to be heritable and multiple genomic regions were strongly implicated from OSA, including regions on chromosomes 1 (LOD=3.07, p=3×10−3) and 22 (LOD=3.45, p=6×10−5) containing several candidates warranting further investigation. This study underscores the genetic heterogeneity of CMI and the utility of PF traits in CMI genetic studies.

show abstract

“…This may result in stenosis at the craniovertebral junction leading to cervical myelopathy and predisposition to quadriparesis in the event of mild trauma. Other neurodevelopmental disorders associated with RSTS include dysgenesis of the corpus callosum [5-6], Dandy Walker malformation [7-8], Arnold Chiari malformation type 1 with and without syringomyelia [9-12], and tethered cord syndrome [13]. Dissecting aneurysms have also been associated with RSTS in the literature.…”

Section: Discussionmentioning

confidence: 99%

Rubinstein-Taybi Syndrome Associated with Pituitary Macroadenoma: A Case Report

Olyaei¹,

Sarmiento²,

Bannykh³

et al. 2017

Cureus

View full text Add to dashboard Cite

Rubinstein-Taybi Syndrome (RSTS) is an autosomal dominant disorder that is classically characterized by prenatal and postnatal growth restriction, microcephaly, dysmorphic craniofacial features, broad thumbs and toes, and intellectual disability. We describe the first reported case of a pituitary macroadenoma associated with RSTS.A 39-year-old Caucasian female with a past medical history of RSTS diagnosed at age two was found to have a gadolinium-enhancing pituitary mass on magnetic resonance imaging (MRI) of the brain three years ago during workup for migraine-like headaches. Subsequent serial imaging showed radiographic evidence of growth up to 11.5 x 14.0 x 10.0 mm in size. The pituitary sellar lesion was resected through an endoscopic transnasal transsphenoidal approach and was found to be a thyrotroph adenoma.RSTS is a rare, neurodevelopmental genetic disease where most patients with disabilities survive into adulthood. The disorder is associated with an increased predisposition for development of nervous system tumors, including pituitary adenomas.

show abstract

Rubinstein–Taybi syndrome associated with Chiari type I malformation caused by a large 16p13.3 microdeletion: A contiguous gene syndrome?

Cited by 28 publications

References 29 publications

Isolated macrocerebellum: description of six cases and literature review

Isolated macrocerebellum: description of six cases and literature review

Genetic Evaluation and Application of Posterior Cranial Fossa Traits as Endophenotypes for Chiari Type I Malformation

Rubinstein-Taybi Syndrome Associated with Pituitary Macroadenoma: A Case Report

Contact Info

Product

Resources

About