Back to Search
Start Over
Laurence-Moon-Bardet-Biedl Syndrome: A Rare Case With a Literature Review
- Source :
- Cureus
- Publication Year :
- 2020
- Publisher :
- Cureus, Inc., 2020.
-
Abstract
- Laurence-Moon-Bardet-Biedl syndrome (LMBBS), a rare autosomal recessive genetic disorder, results from consanguineous marriage. It is a congenital ciliopathy manifesting with primary and secondary characteristics. Primary clinical features include rod and cone dystrophy, polydactyly, central obesity, genital abnormalities, and mental retardation, often presenting as poor schooling skills. Secondary clinical features include developmental delay, speech deficit, brachydactyly/syndactyly, dental defects, ataxia, olfactory deficit, diabetes mellitus (DM), and congenital heart disease. Herein, we report a case of a 15-year-old male with clinical manifestations of LMBBS, namely learning disabilities, night blindness, hypogonadism, polydactyly, polysyndactyly, and obesity. Physicians must be familiar with this syndrome, for which an early diagnosis, multidisciplinary approach, and regular follow-ups can profoundly diminish morbidity and mortality in LMBBS patients.
- Subjects :
- Pediatrics
medicine.medical_specialty
Ataxia
030204 cardiovascular system & hematology
03 medical and health sciences
0302 clinical medicine
retinitis pigmentosa
Retinitis pigmentosa
Genetics
Internal Medicine
hypogonadism
Medicine
Syndactyly
Psychiatry
Polydactyly
business.industry
laurence moon bardet biedl syndrome
Brachydactyly
General Engineering
Genetic disorder
polydactyly
medicine.disease
Ciliopathy
Polysyndactyly
medicine.symptom
consanguineous marriage
business
030217 neurology & neurosurgery
Subjects
Details
- ISSN :
- 21688184
- Database :
- OpenAIRE
- Journal :
- Cureus
- Accession number :
- edsair.doi.dedup.....d72b9a630ba8ebcc157148ecd49669d5