lissencephaly/edema

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A collodion baby with facial dysmorphism, limb anomalies, pachygyria and genital hypoplasia: a mild form of Neu-laxova syndrome or a new entity?

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Prijava / prijava

Neu-Laxova syndrome is a rare, lethal, autosomal recessive disorder characterized by intrauterine growth retardation, central nervous system anomalies, skin findings, such as ichthyosis, edema, collodion baby and harlequin fetus, facial dysmorphic features, limb anomalies and genital hypoplasia.

Lissencephaly type III, stippled epiphyses and loose, thick skin: a new recessively inherited syndrome.

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Prijava / prijava

We report on two new cases of syndromic lissencephaly in two consanguineous sibs, with skeletal abnormality, born to young, healthy, second cousin parents with healthy children. In Case 1, fetal ultrasound screening at 32 weeks of gestation showed microcephaly, skin infiltration and equinovarus

Brief clinical observations: the Neu-Laxova syndrome--a distinct entity.

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Prijava / prijava

We report a stillborn girl with a complex syndrome of microcephaly, lissencephaly, severe subcutaneous edema, atrophic muscles, camptodactyly, syndactyly of toes and fingers, hypoplastic genitalia, and numerous structural changes of the brain and eyes. Similar cases have been reported by Neu et al

Neu-Laxova syndrome: report of two cases.

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Prijava / prijava

Two cases of Neu-Laxova syndrome are reported. The pathological features are described. There is marked swelling of the palms and soles, which is due to massive fat and myxomatous connective tissue proliferation in addition to edema. Lissencephaly with hypoplasia of cortical descending fibers is

Short rib-polydactyly syndrome, Majewski type.

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Prijava / prijava

A term infant had dwarfism with characteristic skeletal and extraskeletal changes of the short rib-polydactyly syndrome type 2 (Majewski). The skeletal changes included extremely short horizontal ribs, extreme micromelia with disproportionately short ovoid tibiae, and pre- and post-axial

[Diagnostic imaging of the CNS disorders].

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Prijava / prijava

In this lecture, I attempted to demonstrate MR imaging of the cerebral tracts, medullospinal junction and spinal cord. Cortical migration disorders includes heterotopic gray matter, pachygyria and polymicrogyria. Delayed myelination and dysmyelination are shown as hyper signal intensity in the white

Mechanics of the brain: perspectives, challenges, and opportunities.

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Prijava / prijava

The human brain is the continuous subject of extensive investigation aimed at understanding its behavior and function. Despite a clear evidence that mechanical factors play an important role in regulating brain activity, current research efforts focus mainly on the biochemical or

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