Ponte Academic Journal Nov 2015, Volume 71, Issue 11 |
Barber?Say Syndrome: A Case Report Author(s): Bozgia M, Elhony N, Elshrief N, Duweb G J. Ponte - Nov 2015 - Volume 71 - Issue 11 Abstract: Barber-Say syndrome is a rare entity described in less than 10 patients in the literature. In 1982, Barber and colleagues reported the first case with a new syndrome characterized by ectropion, macrostomia, abnormal skin, severe hypertrichosis and growth retardation. We report the case of a 12-months old female Libyan child who is the fourth child of healthy non-consanguineous parents and has three healthy siblings with no relevant family history. The case was presented to us with striking dysmorphic features: sparse eye brows and lashes, hypertelorism, telecanthus, bilateral ectropion, broad nasal bridge, bulbous nose, low set ears and absent tragus, bilateral symmetrical temporal depressed atrophied areas, bilateral nipple hypoplasia, generalized hypertrichosis mainly of the back, hyper laxity and redundancy of the skin all over the body giving rise to aged appearance of the patient. Physical and mental growth are both mildly delayed. Laboratory tests were within normal limits. The banded karyotype was 46,XX. In conclusion, we add to the literature a rare case and to the best of our knowledge this is the first case of the Barber-Say syndrome be reported from Libya and Africa.
|
Download full text: Check if you have access through your login credentials or your institution |
|
Guide for Authors
This guideline has been prepared for the authors to new submissions and after their manuscripts have been accepted |
Authors Login
We welcome refrees who would be willing to act as reviewers |
Paper Tracking
You can track your submitted article from this tab |
Editorial Board
The international editorial board is headed by Dr. Maria E. Boschi |
General Policies
Papers that are published or held by the Journal may not be published elsewhere |
Peer Review Process
Papers will be sent to three peer reviewers for evaluation |