A fetus with upper limb amelia, “caudal regression” and Dandy-Walker defect with an insulin-depedent diabetic mother

Bruyere, Harold J.; Viseskul, Chirane; Opitz, John M.; Langer, Leonard O.; Ishikawa, Shizen; Gilbert, Enid F.

doi:10.1007/bf01846033

Cited by 26 publications

(16 citation statements)

References 39 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…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

View full text Add to dashboard Cite

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.

show abstract

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

View full text Add to dashboard Cite

show abstract

“…These data limitations also raise the concern for bias in the current data, making interpretations and generalizations difficult. The few studies that have examined non‐genetic risk factors of DWM have reported warfarin [Kaplan et al, ], rubella [Murray et al, ], isotretinoin [Benke, ], diabetes [Bruyere Jr. et al, ], and clomiphene citrate [Reefhuis et al, ] as potential factors for increasing the risk for DWM; however, with the exception of the study by Reefhuis et al [], these associations were reported in individual case reports or case‐series using clinic‐based data.…”

Section: Introductionmentioning

confidence: 99%

Risk factors for Dandy–Walker malformation: A population‐based assessment

Reeder

Botto

Keppler‐Noreuil

et al. 2015

American J of Med Genetics Pt A

View full text Add to dashboard Cite

Dandy-Walker malformation (DWM) is the most common congenital malformation of the cerebellum, but its causes are largely unknown. An increasing number of genes associated with congenital cerebellar malformations have been identified; however, few studies have examined the potential role of non-genetic, potentially modifiable risk factors. From the National Birth Defects Prevention Study, we examined maternal, paternal, and infant characteristics and maternal conditions and periconceptional exposures (from 1 month before to 3 months after conception) among infants with DWM (n = 160) and unaffected controls (n = 10,200), delivered between 1997 and 2009. Odds ratios, crude (cOR) and adjusted (aOR) were computed using logistic regression. Maternal factors associated with DWM included non-Hispanic black race/ethnicity (aOR = 2.0, 95%CI: 1.3-3.2). Among maternal conditions, a history of infertility increased the risk for DWM (all: aOR = 2.4, 95%CI: 1.3-4.6; multiple: aOR = 3.9, 95%CI: 1.7-8.9). The lack of association with many maternal exposures supports the hypothesis of a major contribution of genetic factors to the risk for DWM; however, the observed associations with maternal non-Hispanic black race/ethnicity and maternal history of infertility indicate that further research into factors underlying these characteristics may uncover potentially modifiable risk factors, acting alone or as a component of gene-environment interactions.

show abstract

“…Associated congenital anomalies include hypertelorism and cardiac, renal, and skeletal malformations, including syndactyly, polydactyly, and limb and vertebral abnormalities . In regards to craniofacial abnormalities, the frequency of cleft lip/palate, high‐arched palate, retrognathia, maldentition, and low‐set, poorly lobulated ears appear to occur more commonly in patients with DWS . However, no previous studies have reported on the dental manifestations and management of DWS.…”

Section: Introductionmentioning

confidence: 99%

Oral findings and dental treatment in a patient with Dandy–Walker syndrome: a case report

Kusumoto

Shinozuka

2013

Special Care in Dentistry

View full text Add to dashboard Cite

Dandy-Walker syndrome (DWS) is congenital disease characterized by hypoplasia of the cerebellum, the formation of cysts that communicate with the fourth ventricle of the posterior cranial fossa, and hydrocephalus. In addition to various other complications, cleft lip/palate, facial retrognathia, a high-arched palate, and maldentition occur at an increased frequency in patients with DWS. However, few studies have reported the dental manifestations of DWS. Herein, we report the clinical manifestations, oral findings, and dental management of a DWS patient who was treated under general anesthesia. Poor oral hygiene, gingivitis, and several congenital dental abnormalities (e.g., generalized microdontia, conical tooth, transposition, and congenitally missing teeth) were observed. This report is the first to describe the oral findings and dental treatment of DWS. Our findings emphasize the importance of a multidisciplinary approach in the diagnosis and treatment of DWS.

show abstract

A fetus with upper limb amelia, “caudal regression” and Dandy-Walker defect with an insulin-depedent diabetic mother

Cited by 26 publications

References 39 publications

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

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

Risk factors for Dandy–Walker malformation: A population‐based assessment

Oral findings and dental treatment in a patient with Dandy–Walker syndrome: a case report

Contact Info

Product

Resources

About