Family case of holoprosencephaly

Holoprosencephaly is a heterogenous group of diseases. It is caused by full or partial lack of separatio of the embryonic prosencephalon into two different hemisfere. It may by associated with malformations in the central part of the face. It is often caused by the mothers explosure to teratogens in the first weeks of pregnancy or chromosomal abberationions. Hereditary holoprosencephalies are described as autosomal dominant diseases with varied penetration or autosomal recessive or X-linked syndromes.