تقرير
Laurence-Moon-Bardet-Biedl Syndrome: A Rare Case With a Literature Review.
| العنوان: | Laurence-Moon-Bardet-Biedl Syndrome: A Rare Case With a Literature Review. |
|---|---|
| المؤلفون: | Kumar A; Psychiatry and Behavioral Sciences, Jinnah Medical and Dental College, Karachi, PAK., Husain A Sr; Opthalmology, Jinnah Medical and Dental College, Karachi, PAK., Saleem A; Medicine and Surgery, Jinnah Medical and Dental College, Karachi, PAK., Khawaja UA; Internal Medicine, Jinnah Medical and Dental College, Karachi, PAK.; Clinical and Translational Research, Larkin Community Hospital, Miami, USA., Virani S; Medicine and Surgery, Jinnah Medical and Dental College, Karachi, PAK. |
| المصدر: | Cureus [Cureus] 2020 Nov 05; Vol. 12 (11), pp. e11355. Date of Electronic Publication: 2020 Nov 05. |
| نوع المنشور: | Case Reports |
| اللغة: | English |
| بيانات الدورية: | Publisher: Cureus, Inc Country of Publication: United States NLM ID: 101596737 Publication Model: Electronic Cited Medium: Print ISSN: 2168-8184 (Print) Linking ISSN: 21688184 NLM ISO Abbreviation: Cureus Subsets: PubMed not MEDLINE |
| أسماء مطبوعة: | Original Publication: Palo Alto, CA : Cureus, Inc. |
| مستخلص: | 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. Competing Interests: The authors have declared that no competing interests exist. (Copyright © 2020, Kumar et al.) |
| References: | Cureus. 2019 Feb 21;11(2):e4114. (PMID: 31058008) Sci Rep. 2016 Oct 06;6:34764. (PMID: 27708425) Eur J Hum Genet. 2013 Jan;21(1):8-13. (PMID: 22713813) Cureus. 2019 Sep 10;11(9):e5618. (PMID: 31696011) Mol Genet Metab. 2019 Apr;126(4):495-503. (PMID: 30902542) Cureus. 2019 Sep 21;11(9):e5717. (PMID: 31720185) N Engl J Med. 1989 Oct 12;321(15):1002-9. (PMID: 2779627) Cureus. 2019 Jun 11;11(6):e4885. (PMID: 31497414) Am J Med Genet A. 2005 Feb 1;132A(4):352-60. (PMID: 15637713) |
| فهرسة مساهمة: | Keywords: hypogonadism; laurence moon bardet biedl syndrome; polydactyly; retinitis pigmentosa; consanguineous marriage |
| تواريخ الأحداث: | Date Created: 20201211 Latest Revision: 20201212 |
| رمز التحديث: | 20231215 |
| مُعرف محوري في PubMed: | PMC7720918 |
| DOI: | 10.7759/cureus.11355 |
| PMID: | 33304690 |
| قاعدة البيانات: | MEDLINE |
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