gastroschisis/seizures

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Diaphragmatic Eventration in Sisters with Asparagine Synthetase Deficiency: A Novel Homozygous ASNS Mutation and Expanded Phenotype.

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BACKGROUND Asparagine Synthetase Deficiency (ASNSD; OMIM #615574) is a newly described rare autosomal recessive neurometabolic disorder, characterised by congenital microcephaly, severe psychomotor delay, encephalopathy and progressive cerebral atrophy. To date, seven families and seven missense

Responsiveness to phenobarbital in an adult with Crigler-Najjar disease associated with neurological involvement and skin hyperextensibility.

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We present the case of a 23-yr-old man who had had since birth marked and sustained unconjugated non-hemolytic hyperbilirubinemia and who had had several attacks of grand mal seizures. Analysis of serum bilirubin by diazoreactive methods showed serum levels of unconjugated bilirubin as high as 445

Eclampsia complicating hydatidiform molar pregnancy with a coexisting, viable fetus. A case report.

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BACKGROUND Eclampsia is a rare and serious complication of pregnancy. The occurrence of preeclampsia prior to the 20th week of gestation has been associated with concurrent hydatidiform molar pregnancy. We present a case of eclampsia complicating a partial molar pregnancy associated with a viable

Fryns Syndrome

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Clinical characteristics: Fryns syndrome is characterized by diaphragmatic defects (diaphragmatic hernia, eventration, hypoplasia, or agenesis); characteristic facial appearance (coarse facies, wide-set eyes, a wide and depressed nasal

Fetal midgut herniation into the umbilical cord: improved definition of ventral abdominal anomaly with the use of transvaginal sonography.

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The most common anomalies of the fetal ventral abdominal wall include omphalocele and gastroschisis. Umbilical cord hernia is another abdominal wall defect that is poorly defined and usually mistakenly considered as a small omphalocele. The present report describes the sonographic features and

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