Isolated Congenital Anosmia: Case Report and Literature Review.

Isolated congenital anosmia (ICA) is a rare entity worldwide with poorly understood genetic variation. The diagnosis of ICA is made by exclusion of acquired causes of anosmia. Additionally, magnetic resonance imaging in ICA is essential for diagnosis, as it shows reduced or absent development of olfactory bulbs and shallow olfactory sulci.

Perinatal atypical teratoid/rhabdoid tumor involving the deep ear structures and complicated by arterial infarction.

Atypical teratoid/rhabdoid tumor is a malignant pediatric brain tumor. Unusual invasive behavior of the dura and bony involvement of the deep ear structures and rapid progression in size complicated by arterial infarction have not been described before. A newborn girl presented with increased intracranial pressure.

Potential oligogenic disease of mental retardation, short stature, spastic paraparesis, and osteopetrosis.

The interaction of multiple genetic factors, as opposed to monogenic inheritance, has been suspected to play a role in many diseases. This interaction has been described as an oligogenic inheritance model, which may be a useful tool in explaining certain clinical observations. The purpose of this study was to search for novel genetic defects among members of a family with traits that include mental retardation, short stature, osteopetrosis, calcification of basal ganglia, and thinning of the corpus callosum.