Lethal olivopontoneocerebellar hypoplasia with dysmorphic features in sibs.

Young, Ian; McKeever, P A; Squier, M. V.; Grant, John H.

doi:10.1136/jmg.29.10.733

Cited by 16 publications

(2 citation statements)

References 7 publications

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“…Two other patients were reported to have polyhydramnios, dysmorphism, contractures, seizures, and PCH with sparing of the vermis [Young et al, 1992]. However, the particular dysmorphism described, the rockerbottom feet and the trisomy 18-like finger configuration in these patients indicate they likely had Bowen-Conradi syndrome.…”

Section: Differential Diagnosis Of (O)pchmentioning

confidence: 75%

Severe, fetal‐onset form of olivopontocerebellar hypoplasia in three sibs: PCH type 5?

Patel

Becker

Toi

et al. 2006

American J of Med Genetics Pt A

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We present three siblings with a precise onset of fetal seizure-like activity who had severe olivopontocerebellar hypoplasia (OPCH) and degeneration. Autopsies at 20, 27, and 37 weeks gestation showed diffuse central nervous system volume loss that was most marked for the cerebellum and brain stem structures. Neuropathological abnormalities included dysplastic, C-shaped inferior olivary nuclei, absent or immature dentate nuclei, and cell paucity more marked for the cerebellar vermis than the hemispheres. Delayed development was seen in layer 2 of the cerebral cortex and in Purkinje cells of the cerebellum. Prenatal monitoring defined a developmental window of 16-18 weeks gestation when ultrasonic assessment of cerebellar width was used for prenatal diagnosis. We discuss our findings in the context of the differential diagnosis for infantile (O)PCH and propose a classification scheme for the pontocerebellar hypoplasias. These patients represent the earliest reported with OPCH and provide unique information regarding the developmental neuropathology of this condition.

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Section: Differential Diagnosis Of (O)pchmentioning

confidence: 75%

Severe, fetal‐onset form of olivopontocerebellar hypoplasia in three sibs: PCH type 5?

Patel

Becker

Toi

et al. 2006

American J of Med Genetics Pt A

View full text Add to dashboard Cite

show abstract

“…Two other patients were reported to have polyhydramnios, dysmorphism, contractures, seizures, and PCH with sparing of the vermis [Young et al, 1992]. However, the particular dysmorphism described, the rockerbottom feet and the trisomy 18‐like finger configuration in these patients indicate they likely had Bowen–Conradi syndrome.…”

Section: Discussionmentioning

confidence: 97%

Enzymatic biodegradation of HEMA/bisGMA adhesives formulated with different water content

Kostoryz

Dharmala

et al. 2008

J Biomed Mater Res

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Dentin adhesives may undergo phase separation when bonding to wet demineralized dentin. We hypothesized that adhesives exhibiting phase separation will experience enhanced biodegradation of methacrylate ester groups. The objective of this project was to study the effect of enzyme-exposure on the release of methacrylic acid (MAA) and 2-hydroxyethyl methacrylate (HEMA) from adhesives formulated under conditions simulating wet bonding. HEMA/bisGMA(2,2-bis[4(2-hydroxy-3-methacryloyloxy-propyloxy)-phenyl] propane), 45/55 w/w ratio, was formulated with different water content: 0 Wt % (A00), 8 wt % (A08), and 16 wt % (A16). After a three day prewash, adhesive discs were incubated with/without porcine liver esterase (PLE) in phosphate buffer (PB, pH 7.4) at 37°C for 8 days. Supernatants were collected daily and analyzed for MAA and HEMA by HPLC. For all formulations, daily MAA release in the presence of PLE was increased compared to MAA release in PB. HEMA release in the presence of PLE was not detected while HEMA release was consistently measured in PB. A08 and A16 released significantly larger amounts of HEMA compared to A00. Analysis of the cumulative release of analytes showed that the leachables in PLE was significantly increased (p < 0.05) as compared with that released in PB indicating that MAA release was not only formed from unreacted monomers but from pendant groups in the polymer network. However, the levels of analytes HEMA in PB or MAA in PLE were increased in A08 and A16 as compared with A00, which suggests that there could be a greater loss of material in HEMA/bisGMA adhesives that experience phase separation under wet bonding conditions.

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Malformations of the Nervous System and Hydrocephalus

Squier¹

2001

Fetal and Neonatal Pathology

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Lethal olivopontoneocerebellar hypoplasia with dysmorphic features in sibs.

Cited by 16 publications

References 7 publications

Severe, fetal‐onset form of olivopontocerebellar hypoplasia in three sibs: PCH type 5?

Severe, fetal‐onset form of olivopontocerebellar hypoplasia in three sibs: PCH type 5?

Enzymatic biodegradation of HEMA/bisGMA adhesives formulated with different water content

Malformations of the Nervous System and Hydrocephalus

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