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 ...

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 ...

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 ...

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, ...

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 ...

We describe the use of preimplantation genetic diagnosis for SHH mutation in a family with holoprosencephaly. The use of this technique, followed by confirmation of mutation-free status by ...

Recognition of the clinical features of Trisomy 13 syndrome, a common autosomal trisomy, provides the basis for diagnostic testing and counseling of families. This article provides a systematic guide ...

Cyclopia is a rare birth defect that occurs when the front part of the brain doesn’t cleave into right and left hemispheres. The most obvious symptom of cyclopia is a single eye or a partially divided ...