Oculo‐palatal‐cerebral syndrome: A second case

Pellegrino, Joan E.; Engel, Joel; Chavez, Donna L.; Day‐Salvatore, Debra

doi:10.1002/1096-8628(2001)9999:9999<::aid-ajmg1152>3.0.co;2-6

Cited by 7 publications

(7 citation statements)

References 6 publications

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“…PHPV associated with genetic syndromes has been published with many different entities, but the distinct features of our patient, and the previous cases demonstrated by Frydman et al [1985] and Pellegrino et al [2001] leaves no doubt that oculo‐palato‐cerebral syndrome is a unique entity.…”

Section: Discussioncontrasting

confidence: 41%

“…She shares similar features with the previously reported cases (Table I). The patient reported by Pellegrino et al [2001] had the same phenotypic features as the sibs described by Frydman et al [1985], but had milder neurological impairment. He did not have spasticity, or hearing loss, and showed mild delay in development.…”

Section: Discussionmentioning

confidence: 56%

“…Autosomal‐recessive inheritance was suggested then, considering the familial occurrence of these unrelated, nonspecific features as part of a new syndrome. The second case was identified 16 years later by Pellegrino et al [2001]. This patient was born to a non‐consanguineous couple of Eastern European Jewish descent.…”

Section: Discussionmentioning

confidence: 99%

“…Herein, we report a third case of oculo‐palato‐cerebral syndrome. The first report by Frydman et al [1985] suggested autosomal recessive inheritance, but this could not be supported by the second case reported by Pellegrino et al [2001], although the parents came from the same ethnic background. The present patient demonstrates the unique features of this rare syndrome and supports the suggested mode of inheritance as autosomal recessive.…”

Section: Introductionmentioning

confidence: 95%

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Three‐month, zero‐order piroxicam release from monodispersed double‐walled microspheres of controlled shell thickness

Berkland

Cox

Kim

et al. 2004

J Biomedical Materials Res

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Double-walled microspheres represent an increasingly important class of drug delivery devices that provide enhanced control of drug delivery schedules. Clearly, the overall particle size and shell thickness are important parameters in modulating the drug release rates. Precision particle fabrication technology has been used to fabricate double-walled microspheres of predefined uniform diameters of 40-60 microm exhibiting a poly(D,L-lactide-co-glycolide) (PLG) core and poly(L-lactide) (PL) shell of controllable thickness from approximately 2 to 10 microm. The release of a model small-molecule drug, piroxicam, from uniform microspheres of pure PLG and PL is compared to the release from double-walled microspheres exhibiting different PL shell thicknesses. The presence of the PL shell enveloping a PLG core essentially eliminated the initial "burst" of piroxicam that was observed when the drug was released from pure PLG microspheres. In addition, increasing the PL shell thickness shifted the release profile from a biphasic shape for pure PLG microspheres to zero-order piroxicam release over 3 months for the thickest (approximately 10 microm) PL shell.

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Section: Discussioncontrasting

confidence: 41%

Section: Discussionmentioning

confidence: 56%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 95%

See 2 more Smart Citations

Three‐month, zero‐order piroxicam release from monodispersed double‐walled microspheres of controlled shell thickness

Berkland

Cox

Kim

et al. 2004

J Biomedical Materials Res

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show abstract

“…MRI findings have allowed a better definition of the Oculo‐palatal‐cerebral syndrome [Pellegrino et al, 2001], the Mowat syndrome [Amiel et al, 2001], the 22q13 deletion syndrome [Phelan et al, 2001], and the 1p36 deletion syndrome [Battaglia et al, 2002].…”

Section: Recognizable Patterns Of Human Malformationmentioning

confidence: 99%

Neuroimaging studies in the evaluation of developmental delay/mental retardation

Battaglia

2002

American J of Med Genetics Pt C

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The employment of neuroimaging studies in the evaluation of individuals with developmental delay/mental retardation (DD/MR) is still highly debated. The Consensus Conference of the American College of Medical Genetics has suggested that "neuroimaging appears to have an especially important role in patients with microcephaly or macrocephaly, seizures, loss of psychomotor skills and neurologic signs," whereas the value of neuroimaging investigations "in the normocephalic patient without focal neurological signs is unclear" [Curry et al., 1997]. However, recent literature reports show how the latest neuroimaging techniques (in vivo proton magnetic resonance spectroscopy [H-MRS]) may prove to be useful in the diagnostic process of those individuals with DD/MR and no neurological signs/symptoms. The use of these techniques can, in addition, help in monitoring treatment in distinct metabolic disorders. This review will focus on the usefulness of neuroimaging studies in some of the newer metabolic disorders. This paper will also cover those recognizable patterns of human malformation where neuroimaging findings seem to be relevant both toward diagnosis and management, and add to our understanding of the related behavior phenotype. The essential role of magnetic resonance imaging (MRI) on the progress in the diagnostic recognition of malformations of cerebral cortical development is stressed.

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Oculo‐palato‐cerebral syndrome: A third case supporting autosomal recessive inheritance

Alanay

Boduroğlu

Sönmez

et al. 2004

American J of Med Genetics Pt A

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In 1985, Frydman et al. [1985: Clin Genet 27:414-419] described a syndrome characterized by growth failure, microcephaly, persistent hyperplastic primary vitreous (PHPV) with microphthalmia, cleft palate, connective tissue abnormality, mental retardation, and spastic quadriplegia. The syndrome was termed as oculo-palato-cerebral dwarfism. The first patients described were offsprings of a consanguineous couple of Moroccan Jewish descent, suggesting autosomal recessive inheritance. An additional case was reported by Pellegrino et al. [2001: Am J Med Genet 99:200-203] in 2001. The clinical features were milder than the original cases, and there was no consanguinity. We report a third patient with oculo-palato-cerebral syndrome, supporting autosomal recessive inheritance, and a detailed comparison with the previous cases. This article contains supplementary material, which may be viewed at the American Journal of Medical Genetics website at http://www.interscience.wiley.com/jpages/0148-7299/suppmat/index.html.

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Oculo‐palatal‐cerebral syndrome: A second case

Cited by 7 publications

References 6 publications

Three‐month, zero‐order piroxicam release from monodispersed double‐walled microspheres of controlled shell thickness

Three‐month, zero‐order piroxicam release from monodispersed double‐walled microspheres of controlled shell thickness

Neuroimaging studies in the evaluation of developmental delay/mental retardation

Oculo‐palato‐cerebral syndrome: A third case supporting autosomal recessive inheritance

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