global medical database
The research paper was accepted from the Kingdom of Saudi Arabia in the name of Dr. Abdullah Saad Al-Awashz Al-Shahrani, a consultant endocrinologist and diabetes in children, during the annual European Medical Conference on Pediatric Endocrinology, scheduled to be held from 19 to 12 September.
And the research paper, entitled "A girl suffering from severe stunting due to a genetic defect recorded for the first time in the medical database". The girl was examined immediately after birth after severe stunting was noticed and clinical signs indicating a link to the well-known syndrome "Laron" with additional unexplained signs .
All the necessary initial tests and genetic analysis of the girl were conducted, and the analyzes showed the presence of a rare genetic defect indicating that the girl had Laron syndrome, but the location of the defect in a gene was previously unknown in the medical history.
There is also another defect in a new genetic site that confirms that the girl has a syndrome called "spondyloepiphyseal dysplasia".
The case was officially accepted, after presenting its details to the conference committee. To become the first case recorded in the global medical database To be discussed and the scientific data related to it will be the first building block for any similar case later in the medical field and for making a treatment plan for this rare case.
