1999
DOI: 10.1023/a:1026560721525
|View full text |Cite
|
Sign up to set email alerts
|

Untitled

Abstract: Bardet-Biedl syndrome (BBS) is a hereditary autosomal-recessive disorder, characterized by mental retardation, obesity, pigmentary retinopathy, polydactyly and, only in males, hypogenitalism. Even though genetic studies have revealed five different forms of BBS correlated to distinct loci on different chromosomes, a diagnosis of BBS is still primarily based on clinical data. The present study discusses the evolution of clinical ophthalmological and electrophysiological characteristics of BBS patients in develo… Show more

Help me understand this report

Search citation statements

Order By: Relevance

Paper Sections

Select...
4
1

Citation Types

2
3
1

Year Published

2003
2003
2022
2022

Publication Types

Select...
7

Relationship

0
7

Authors

Journals

citations
Cited by 14 publications
(6 citation statements)
references
References 25 publications
2
3
1
Order By: Relevance
“…These results are consistent with previously reported findings in both adults and pediatric BBS patients (20,21). However, other studies have described a slight female predominance (5).…”
Section: Discussionsupporting
confidence: 94%
See 3 more Smart Citations
“…These results are consistent with previously reported findings in both adults and pediatric BBS patients (20,21). However, other studies have described a slight female predominance (5).…”
Section: Discussionsupporting
confidence: 94%
“…In six patients with strabismus, there was a fair distribution between esotropias and exotropias. Similar findings have been described in young BBS patients presenting nystagmus, but a tendency to exotropia was not found in our cohort (20,21). …”
Section: Discussionsupporting
confidence: 92%
See 2 more Smart Citations
“…Retinitis pigmentosa in LMBB syndrome is known to present early in the life and affecting males similar to our study. [ 11 20 21 ] Affection of males predominantly in an autosomal recessive pattern of inheritance is to be studied further; the male and female number may also vary due to more male child presenting to the hospital.…”
Section: Discussionmentioning
confidence: 99%