chondrodysplasia punctata/seizures

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13 torthaí

Rhizomelic chondrodysplasia punctata and survival beyond one year: a review of the literature and five case reports.

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Logáil Isteach / Cláraigh

Rhizomelic chondrodysplasia punctata (RCDP), a peroxisomal disorder, is considered to be a lethal neonatal autosomal recessive chondrodysplasia. We report five patients, three of whom survived beyond 1 year, and we summarize the findings in 21 patients from a literature review who survived beyond 1

Molecular, biochemical, and phenotypic analysis of a hemizygous male with a severe atypical phenotype for X-linked dominant Conradi-Hunermann-Happle syndrome and a mutation in EBP.

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Logáil Isteach / Cláraigh

X-linked dominant Conradi-Hunermann-Happle syndrome (CDPX2; MIM 302960) is a rare chondrodysplasia punctata primarily affecting females. CDPX2 is presumed lethal in males, although a few affected males have been reported. CDPX2 is a cholesterol biosynthetic disorder due to

Rare Case of Rhizomelic Chondrodysplasia Punctata.

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Logáil Isteach / Cláraigh

BACKGROUND Rhizomelic chondrodysplasia punctata (RCDP) is a very rare disease. It impairs the normal development of many parts of the body. The features of this disorder include bony abnormalities, severe mental retardation, joint contractures, cataract and recurrent respiratory infections and

Rhizomelic chondrodysplasia punctata with maternal systemic lupus erythromatosus.

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Logáil Isteach / Cláraigh

We report Rhizomelic Chondrodysplasia Punctata (RDCP), a rare, autosomal recessive disorder with rhizomelic shortening of limbs, congenital cataracts and seizures but without any biochemical abnormality. The mother of the baby developed Systemic Lupus Erythromatosus (SLE) with Ro/SSA antibodies 11

The neurology of rhizomelic chondrodysplasia punctata.

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Logáil Isteach / Cláraigh

BACKGROUND To describe the neurologic profiles of Rhizomelic chondrodysplasia punctata (RCDP); a peroxisomal disorder clinically characterized by skeletal abnormalities, congenital cataracts, severe growth and developmental impairments and immobility of joints. Defective plasmalogen biosynthesis is

Rhizomelic chondrodysplasia punctata: Role of EEG as a biomarker of impending epilepsy.

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Logáil Isteach / Cláraigh

Progressive deterioration of neuroimaging and electroencephalography (EEG) had been described in rhizomelic chondrodysplasia punctata (RCDP); however, serial EEG data showing sequential EEG changes(before and after seizure onset) is lacking. We report a child with a diagnosis of type 1 RCDP, who had

Long term follow-up of two sibs with an autosomal recessive form of chrondrodysplasia punctata and epilepsy.

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Logáil Isteach / Cláraigh

Long term follow-up of two sibs with an autosomal recessive form of chrondrodysplasia punctata and epilepsy: A variety of osteodysplasias are referred to with the term chondrodysplasia punctata (CDP). Here we report on two sibs, a boy and a girl, with probable autosomal recessive form of CDP and

A syndrome of congenital ichthyosis, hypogonadism, small stature, facial dysmorphism, scoliosis and myogenic dystrophy.

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Logáil Isteach / Cláraigh

Rud syndrome formerly was considered as a genetically heterogeneous but distinct clinical entity with the manifestations of ichtyosis, hypogonadism, small stature, mental retardation, epilepsy and, infrequently, retinitis pigmentosa. The existence of such a syndrome has recently been dismissed based

Epilepsy in peroxisomal diseases.

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Logáil Isteach / Cláraigh

OBJECTIVE To clarify the electroclinical manifestation of epileptic seizures and the evolution of epilepsy in patients with peroxisomal diseases. METHODS Retrospective review of the medical records and EEGs of 14 patients with peroxisomal diseases: seven with Zellweger syndrome (ZS), two with

An infantile case of Zellweger syndrome presented with Kabuki-like phenotype.

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Logáil Isteach / Cláraigh

Zellweger syndrome is a peroxisomal disorder resulting from the mutations in PEX genes generally presenting in the neonatal period with profound hypotonia seizures, inability to feed, liver cysts with hepatic dysfunction, chondrodysplasia punctata. Kabuki make-up syndrome is a multiple congenital

Alkylglycerone phosphate synthase (AGPS) deficient mice: models for rhizomelic chondrodysplasia punctate type 3 (RCDP3) malformation syndrome.

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Logáil Isteach / Cláraigh

Rhizomelic chondrodysplasia punctata (RCDP) is a genetically heterogeneous autosomal recessive syndrome characterized by congenital cataracts, shortening of the proximal limbs, neurological abnormalities, seizures, growth delays, and severe intellectual disability. Most RCDP children die in the

A peroxisomal disorder of severe intellectual disability, epilepsy, and cataracts due to fatty acyl-CoA reductase 1 deficiency.

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Logáil Isteach / Cláraigh

Rhizomelic chondrodysplasia punctata (RCDP) is a group of disorders with overlapping clinical features including rhizomelia, chondrodysplasia punctata, coronal clefts, cervical dysplasia, congenital cataracts, profound postnatal growth retardation, severe intellectual disability, and seizures.

The peroxisome and the eye.

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Logáil Isteach / Cláraigh

Several childhood multisystem disorders with prominent ophthalmological manifestations have been ascribed to the malfunction of the peroxisome, a subcellular organelle. The peroxisomal disorders have been divided into three groups: 1) those that result from defective biogenesis of the peroxisome

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