Journal of Cell Science and Mutations

All submissions of the EM system will be redirected to Online Manuscript Submission System. Authors are requested to submit articles directly to Online Manuscript Submission System of respective journal.
Reach Us +44-7360-538437

Rapid Communication - Journal of Cell Science and Mutations (2022) Volume 6, Issue 4

Point mutation holoprosencephaly through impaired pancreatic and neurological development.

Holoprosencephaly is the foremost common brain mutation in humans and it may be a complex hereditary clutter. We report on a persistent with holoprosencephaly caused by a uncommon ZIC2 transformation displaying a bifid nose related with a nasal fistula and an epidermal sore, other than hypernatremia. The understanding was a 1 year and 4 months ancient young lady that created an imperative neuro psychomotor delay. As of now, her employments a wheelchair to move around and as it were emanate sounds. Computed Tomography (CT) check uncovered a semi lobar holoprosencephaly and a Dandy-Walker variation. Head attractive reverberation imaging too uncovered corpus callosum agenesis and prefrontal subarachnoid space extension. On physical examination at 1 year and 4 months of age, we confirmed development impediment, microcephaly, and two-sided epicantic overlap, up slanting palpebral gaps, bifid nose, and appendages spasticity auxiliary to hypertonia. Afterward, she started to show hypernatremia; be that as it may, its exact cause was not distinguished.

Author(s): Patrick Meloche

Abstract Full Text PDF

Get the App