Holoprosencephaly (HPE) is a rare congenital anomaly in which an embryo’s brain does not properly divide into two halves, known as the left and right hemispheres. HPE affects brain development and can ...

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

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, ...

Scientists from Cleveland, Ohio, and Paris, France, reached an important milestone in understanding a molecular cause of a rare, but serious birth defect, Holoprosencephaly. In this February's FASEB ...

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 ...

Long-Term Survival in a Child with Alobar Holoprosencephaly—Developmental Improvement with Supportive Pharmacotherapy Holoprosencephaly (HPE) is a severe congenital brain malformation characterized by ...

Reprint from Mental retardation and developmental disabilities research reviews, vol. 6, pages 15-21 (2000). SCDIRB has two copies: c. 1 (39088019634443) and c. 2 (39088019634401). SCDIRB c. 1 and c.

For any mother, hearing their baby's first word is a momentous occasion. But for Emma Murray, it was a moment she thought would never happen with her youngest child Aaron. When the two-year-old said ...