C is characterized as the early closure of the calvarial sutures.1 The classification of skull malformations in craniosynostosis is based on the sutures involved.1 Craniosynostosis involves approximately one infant in 2000 live births. More than 150 different types of craniosynostosis have been described and most isolated cases of craniosynostosis have multifactorial or sporadic inheritance,2 a...

We have developed the hyperprocessing technique to evaluate the stability of the cloverleaf shape of pre-transfer RNA (pre-tRNA). Application of this strategy to hyperprocessible human tyrosine pre-tRNA indicated that the natural intron sequence did not contribute to stabilization of the cloverleaf shape of this pre-tRNA, while the artificial intron with elongated anticodon-stem completely inhi...

We shall touch upon four issues of software engineering (SE): domain engineering, formal techniques, SE sociology, and academic software architects. First, before software can be designed one must understand its requirements; but before requirements can be formulated one must understand the domain. So we assume that requirements development is based on first having established models of the (ap...

New millimeter-wavelength emission lines are reported for the Cloverleaf (H1413+117), a gravitationally lensed quasar at redshift 2.56. High signal-to-noise ratio spectra of four lines in CO (J = 3 → 2, 4 → 3, 5 → 4, and 7 → 6) have been obtained and are modelled using an escape probability formalism. The line brightness temperatures are flat or rising between CO(3 → 2) and CO(4 → 3) and then d...

Thanatophoric dwarfism (TD) is a sporadic lethal skeletal dysplasia with micromelic shortening of the limbs, macrocephaly, platyspondyly and reduced thoracic cavity. In the most common subtype (TD1), femurs are curved, while in TD2, straight femurs are associated with cloverleaf skull. Mutations in the fibroblast growth factor receptor 3 (FGFR3) gene were identified in both subtypes. While TD2 ...

Interstitial deletions in the short arm of chromosome 1 are infrequent. We report a female with a 1p31.1p31.3 deletion and cloverleaf skull, who presented with renal and central nervous system malformations, cleft palate, severe ocular anomalies, and cutis laxa, in addition to the previously described clinical data present in other cases with deletions encompassing this region, such as developm...

OBJECTIVE To improve the prenatal diagnosis of thanatophoric dysplasia by defining the change in fetal size across gestation and the frequency of sonographic features, and developing non-invasive molecular genetic diagnosis based on cell-free fetal DNA (cffDNA) in maternal plasma. METHODS Fetuses with a confirmed diagnosis of thanatophoric dysplasia were ascertained, records reviewed, sonogra...