Developmental abnormalities of mid and hindbrain : a study of 23 Egyptian patients

Abstract EN

Holoprosencephaly is a common developmental defect of the forebrain and midrace in humans.

Clinical expression is variable, extending in unbroken sequence from a small brain with a single cerebral ventricle and cyclopean to clinically unaffected carriers in familial holoprosencephaly.

Here, we describe two unrelated affected cases, with alobar, and semi lobar holoprosencephaly with different presentations and clarified the associated phenotypic changes in form of microcephaly, hypotelorism, flat nose, a single nostril ; a midline cleft lip and palate in the first case and solitary median maxillary central incisor, associated with prominent midline palatal ridge in the second case.