In this study we describe the detection of a de novo 1.24 Mb microduplication at 5q35.1 in a 19-year-old boy with HPE and preaxial polydactyly using a genome-wide tiling path resolution microarray.

Fetal magnetic resonance imaging (MRI) can reliably spot holoprosencephaly as early as 18 gestational weeks, providing an opportunity to counsel families earlier in their pregnancy, according to ...

BRITISH teen Nora Quoirin was tragically found dead in the Malaysian jungle on August 13 after she was reported missing a week earlier. Nora suffered from holoprosencephaly - but what is the disease, ...

Fetal magnetic resonance imaging can reliably spot holoprosencephaly as early as 18 gestational weeks, providing an opportunity to counsel families earlier in their pregnancy, according to new ...

Cyclopia is a rare condition that causes a child to be born with one eye, no nose, and a proboscis (a nose-like growth) above the eye. It's caused by a severe malformation of the baby’s brain early in ...

Homer's Cyclops might be myth, but a disorder that can cause babies to be born with only one eye is very real. Scientists from Cleveland, Ohio, and Paris, France, reached an important milestone in ...

If the cerebral hemispheres of the forebrain fail to divide properly in an unborn child, this results in holoprosencephaly. An MDC team led by Annette Hammes has discovered candidate genes that can ...

In 2004, we reported central nervous system and limb anomalies that followed exposure to statin drugs in the first trimester of pregnancy (April 8, 2004, issue). 1 One case, in which there had been ...

Researchers have discovered how the expression of the Sonic hedgehog gene is regulated during brain development and how mutations that alter this process cause brain malformations. University of ...