Ignite Creation Date:
2024-10-26 @ 3:41 PM
Last Modification Date:
2024-10-26 @ 3:41 PM
Study NCT ID:
NCT06615011
Status:
NOT_YET_RECRUITING
Last Update Posted:
None
First Post:
2024-09-24
Brief Title:
Bardet Beidle Syndrome in a Syrian Adolescent a Rare Case Report
Sponsor:
None
Organization:
None
Study Overview
Official Title:
Bardet Beidle Syndrome in a Syrian Adolescent a Rare Case Report
Status:
NOT_YET_RECRUITING
Status Verified Date:
2024-09
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
No
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
AlBaathU
Brief Summary:
Bardet-Biedl Syndrome BBS is an uncommon genetic disorder that affects multiple organs and presents with a variety of characteristics It is caused by a dysfunction in the cilia We present a case of bradet-biedl syndrome presenting with intellectual disabilities post-axial polydactyly gingival hyperplasia and a significant family history of scleroderma The diagnosis was determined based on clinical physical examination findings The patient is undergoing treatment with Thyroxine Although medical staff are incapable of treatment systems support adjust the overall well-being and quality of life for individuals with Bardet-Biedl syndrome and their families
Detailed Description:
Bardet-Biedl Syndrome BBS is a rare genetic disorder that affects multiple organ systems presents with a variety of characteristics It is caused by a dysfunction in the cilia The disorder is autosomal recessive and has a prevalence rate of 1 per 160000 live births in Europe The primary manifestations include central obesity post-axial polydactyly retinal dystrophy hypogonadism learning difficulties and renal malformations Secondary manifestations include diabetes brachydactyly syndactyly strabismus cardiac problems speech difficulties and ataxia The diagnosis of BBS requires the presence of four primary features or three primary features and two secondary features a new paper suggests that modified criteria for diagnosis can be at a moderate level of confidence if it includes at least 2 primary criteria In this paper we describe an adolescent male with a unique presentation of BBS To the best of our knowledge this is the first case in Syria described in the literature
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None