Joint and skin laxity with Dandy-Walker malformation and contractures: a distinct recessive syndrome?

McKee, Shane; Barnicoat, Angela; Fryer, Alan; Flinter, Frances; McCormick, David; McKeown, Carole

doi:10.1097/00019605-200107000-00004

Cited by 7 publications

(4 citation statements)

References 4 publications

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“…Microdactyly was not reported as a coexisting feature in DWC and ED syndrome, although it appears in several inherited conditions [39]. However, clinical descriptions of patients with other upper limb finger deformities observed in both DWC and ED syndrome such as polydactyly [12], swan‐neck finger deformities [37], and ED syndrome type VI with arachnodactyly combined with finger tapering [40] have been occasionally reported, indicating that connective tissue pathology may be more frequent than originally thought in DWC cases.…”

Section: Adult Cases Of Incidentally Diagnosed Dwcmentioning

confidence: 99%

Neuropathological analysis of an asymptomatic adult case with Dandy–Walker variant

Notaridis¹,

Ebbing²,

Giannakopoulos³

et al. 2006

Neuropathology Appl Neurobio

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The Dandy-Walker (DW) complex is a rare posterior fossa malformation, usually observed during the prenatal period or the early infancy. Clinically, it is characterized by mental retardation, seizures, cerebellar ataxia as well as symptoms of hydrocephalus. Structural imaging reveal a hypoplasia or agenesis of the cerebellar vermis, enlargement of the fourth ventricle with a posterior fossa cyst. Additional neurodevelopmental changes such as agenesis of the corpus callosum, lissencephaly and cortical dysplasia are also present. We report the first neuropathological analysis of an adult asymptomatic DW case. Brain computerized tomography showed a massive posterior fossa cyst and hypoplasia of the cerebellum. An Ehlers-Danlos syndrome type IV characterized by repetitive intestinal perforations and a saccular aneurysm on the left posterior communicating artery was also present. Macroscopic brain examination revealed hypoplasia of both cerebellar hemispheres and posterior part of the vermis, as well as dilatation of the fourth ventricle without hydrocephalus. The posterior fossa cyst wall was formed by an external arachnoid layer, middle layer with loose connective tissue and an internal layer of ependymal cells. There were two foci of cerebellar cortical dysplasia but no ectopic neurons, neuronal loss or gliosis in both cerebellum and cerebral cortex. No vascular or significant neurodegenerative lesions were observed. In comparison with previous reports in DW infants, this adult case displayed milder brain abnormalities compatible with a diagnosis of DW variant. The preservation of the cortical cytoarchitecture as well as the paucity of additional neurodevelopmental changes may explain the absence of clinical expression.

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Section: Adult Cases Of Incidentally Diagnosed Dwcmentioning

confidence: 99%

Neuropathological analysis of an asymptomatic adult case with Dandy–Walker variant

Notaridis¹,

Ebbing²,

Giannakopoulos³

et al. 2006

Neuropathology Appl Neurobio

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“…8) and Dandy-Walker syndrome and cutis laxa are also frequently associated with other inborn abnormalities, the combination of defects seen in our patient has not been described before. A combination of Dandy-Walker syndrome and cutis laxa with ligamentous laxity has already been described in two patients, both female (9,10). The first patient also had an atrial septal defect and a subaortic ventricular defect and minor bone abnormalities (9).…”

Section: Discussionmentioning

confidence: 90%

A concurrent occurrence of cutis laxa, Dandy-Walker syndrome and immunodeficiency in a girl

Litzman

Bučková²,

Ventruba

et al. 2003

Acta Paediatrica

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“…Hydrocephalus is associated with numerous negative effects in both children and adults, including intellectual disabilities, urinary incontinence, sexual impairment, epilepsy, visual impairment, and deafness (Simpson and Hemmer, 1993). There is a wide variety of inherited disorders associated with hydrocephalus, including ciliary dyskinesia (al-Shroof et al, 2001), Dandy-Walker malformation (Cavalcanti and Salomao, 1999;McKee et al, 2001), and a number of X-linked disorders (Brooks et al, 1994;Czarnecki et al, 1996;Kenwrick et al, 1996;Katsuragi et al, 2000).…”

Section: Indexing Terms: Qtl; Ventricle; Recombinant Inbred; Stereologymentioning

confidence: 99%

Quantitative trait loci modulate ventricular size in the mouse brain

Zygourakis

Rosen

2003

J of Comparative Neurology

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Cerebral ventricular size in humans varies significantly. Abnormal enlargement of the ventricles has been associated with schizophrenia, and hydrocephalus can lead to serious cognitive and motor deficiencies in humans and animals. In this study, we mapped quantitative trait loci (QTLs) modulating cerebroventricular size in mice. We hypothesized that genes underlying hydrocephalus might also modulate normal variation in ventricular size. By using digital images of mouse brain sections and stereological techniques, we estimated the volume of the combined lateral and third ventricles, as well as the volume of the entire brain, in 228 AXB and BXA recombinant inbred mice and their parent strains (A/J and C57BL/6J). Ventricle size, expressed as percentage of brain volume, is a heritable trait (h(2) = 0.32). We detected a major QTL controlling variance in volume on chromosome (Chr) 8 near the markers D8Mit94 and D8Mit189. We also detected a strong epistatic interaction affecting ventricular volume between loci on Chr 4 (near D4Mit237 and D4Mit214) and on Chr 7 (D7Mit178 and D7Mit191). These three QTLs, labeled Vent8a, Vent4b, and Vent7c, are close to genes that have been previously implicated in hydrocephalus.

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Joint and skin laxity with Dandy-Walker malformation and contractures: a distinct recessive syndrome?

Cited by 7 publications

References 4 publications

Neuropathological analysis of an asymptomatic adult case with Dandy–Walker variant

Neuropathological analysis of an asymptomatic adult case with Dandy–Walker variant

A concurrent occurrence of cutis laxa, Dandy-Walker syndrome and immunodeficiency in a girl

Quantitative trait loci modulate ventricular size in the mouse brain

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