Barbara F. Crandall

TL;DR: It is reported that RAPADILINO patients identified as carriers of the c.1390+2delT mutation are at increased risk to develop lymphoma or osteosarcoma and 14 novel RECQL4 mutations with accompanying clinical data are provided.

TL;DR: Initial observations and attempts at genotype/phenotype correlation lay the groundwork for identifying the genetic basis of these malformations, a common objective of gene mapping efforts and chromosome deletion studies.

TL;DR: The CSA is a useful adjunctive test for confirming an early clinical diagnosis of ataxia-telangiectasia and is also abnormal in other chromosomal instability and immunodeficiency disorders.

TL;DR: There was a statistically significant increase in late fetal and perinatal death, prematurity and growth retardation, oligohydramnios, abruptio placentae, preeclampsia, and congenital abnormalities.

TL;DR: The neuroimaging findings and neurological changes in 17 unpublished patients with Macrocephaly–Capillary Malformation suggest a dynamic process of mechanical compromise in the posterior fossa, perhaps initiated by a rapidly growing cerebellum, which leads to congestion of the venous drainage with subsequently compromised cerebrospinal fluid reabsorption, all of which increases the posterior Fossa pressure and leads to acquired tonsillar herniation.