What is it about?
Hallermann-Streiff- Syndrome is a rare sporadic genetic pathology characterised by a phenotype consisting of growth retardation, ocular abnormalities, and a “bird-like head”. We hereby report a case of this syndrome found in three generations of the same family; father, daughter and grand-daughter, who presented a short stature with facial dysmorphic features, a nystagmus, a congenital cataract, and bilateral microphthalmia.
Featured Image
Why is it important?
We hereby report a case of Hallermann-Streiff- Syndrome discovered in Nkolkock via Obala in Central Cameroon, found in three generations of the same family; father, daughter and grand-daughter during outreach activities in resource-limited communities. They were noted with similarities; a short stature, facial dysmorphic features, a nystagmus, a congenital cataract, and bilateral microphthalmia. The discussion is based on the clinical, genetic aspects and the challenges in management of this oculo-mandibulo-facial syndrome; poor prognosis for cataract surgery, impaired vision or blindness. The association of congenital cataract, facial dysmorphic features, and microphthalmia, should lead to dysmorphic syndromes of which Hallermann-Streiff- syndrome is part of.
Perspectives
I research on primary eye care, this is one of my discovery during outreach activities; poverty and blindness. It’s diagnosis is not easy and the circumstances of diagnosis showcases the value of outreach resource-limited community strategies in an environment where all rare diseases are considered evil, without any hope outlet nor solutions.
Dr Epee Emilienne
university of Yaoundé I
Read the Original
This page is a summary of: A familial study of Hallermann–Streiff–François syndrome, International Medical Case Reports Journal, June 2017, Dove Medical Press,
DOI: 10.2147/imcrj.s114115.
You can read the full text:
Contributors
The following have contributed to this page
