Raimund Kraschl

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Objective Surfactant protein B (SP-B) deficiency is a rare autosomal recessive disorder that is usually rapidly fatal. The c.397delCinsGAA mutation (121ins2) in exon 4 is found in more than two-thirds of patients. Design We report on a fatal case of SP-B deficiency caused by a homozygous C248X mutation in exon 7 of the SP-B gene. In addition, we provide an(More)
We describe additional phenotypic features in a boy and his mother. Both manifested the phenotypic/genotypic correlation of oto-palato-digital syndrome type II. The mother's radiographs showed wormian bones of the skull, and paranasal bossing, her feet showed bilateral fusion of the cuboid with the lateral cuneiform bone with subsequent development of(More)
Fetal magnetic resonance imaging is increasingly being used as an adjunct to ultrasound. It allows for better visualization of in utero brain development and intracranial abnormalities (especially cerebral malformations). Hypothalamic hamartoma is a nonneoplastic malformation resembling normal hypothalamic tissue both histologically and on magnetic(More)
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