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A Rare Presentation of Laurence-Moon-Bardet-Biedl Syndrome: Atypical Retinitis Punctata Albescens and Non-alcoholic Fatty Liver Disease.
Cureus
February 2024
Ophthalmology, Jawaharlal Nehru Medical College, Datta Meghe Institute of Higher Education and Research, Wardha, IND.
This case report emphasizes the varied clinical features of Laurence-Moon-Bardet-Biedl syndrome (LMBBS) in a 10-year-old girl, presenting a rare combination of atypical retinitis punctata albescens, polydactyly, central obesity, and non-alcoholic fatty liver disease (NAFLD). Despite extensive management efforts, the patient's visual impairment remained unchanged, highlighting the challenging and progressive nature of LMBBS, particularly its ocular manifestations. Genetic counseling played a crucial role, stressing the significance of early genetic analysis in consanguineous marriages for anomaly detection and informed family planning.
View Article and Find Full Text PDFLaurence-Moon-Bardet Biedl Syndrome With Cholelithiasis.
Cureus
October 2023
Internal Medicine, Bhaarath Medical College & Hospital, Chennai, IND.
Laurence-Moon-Bardet Biedl syndrome (LMBBS) is a rare autosomal recessive genetic disorder that is most frequently found in children born from consanguineous marriages. The most prominent clinical characteristics of this syndrome include rod and cone dystrophy, nystagmus, central obesity, polydactyly, hypogonadism in males, renal anomalies, developmental delay, ataxia, speech difficulties, and poor coordination. In this report, we describe the case of a 31-year-old male who had the classical clinical features of LMBBS like developmental delay, retinitis pigmentosa, nystagmus, obesity, hypogonadism, and central obesity, presenting with abdominal pain associated with vomiting and tenderness in the right lower quadrant.
View Article and Find Full Text PDFMegaloblastic Anemia in Bardet-Biedl Syndrome: A Rare Case Report.
Clin Med Insights Case Rep
August 2023
Saint Louis University, St.Louis, MO, USA.
Background: Bardet-Biedl syndrome (BBS) also known as Laurence-Moon-Bardet-Biedl syndrome one of the rarely reported genetic disorder characterized by an intellectual disability, limb, kidney abnormalities, obesity, and Rod-cone dystrophy. Other associated condition includes diabetes mellitus, hypertension, hypogonadism, facial dysmorphism, and congenital heart defects. This case highlights megaloblastic anemia associated with BBS.
View Article and Find Full Text PDFBardet-Biedl Syndrome Presenting With Bifid Epiglottis: A Case Report and Review of Literature.
Cureus
April 2023
Histopathology, King Fahad Armed Forces Hospital, Jeddah, SAU.
Bifid epiglottis is a rare congenital laryngeal anomaly that is most commonly a syndromic rather than an isolated entity. It has been associated with specific syndromes, such as Pallister-Hall syndrome, Bardet-Biedl syndrome, and other related syndromes. Bardet-Biedl syndrome is a rare autosomal-recessive disorder characterized by hand and/or feet polydactyly, obesity, short stature, mental retardation, renal anomalies, and genital anomaly.
View Article and Find Full Text PDFA Case of Laurence Moon Bardet Biedl Syndrome.
J Assoc Physicians India
January 2023
Saveetha Medical College & Hospital, Chennai, Tamil Nadu, India.
Introduction: Laurence-Moon-Bardet-Biedl syndrome (LMBBS) is a rare autosomal recessive disorder characterised by polydactyly, retinitis pigmentosa, obesity, hypogonadism and mental retardation.
Materials: A 20-year old male, who is morbidly obese [BMI = 41] with history of intellectual delay, speech impairment and progressive vision loss. Presented to Saveetha medical college, Chennai with chief complaints of breathlessness, oliguria, abdominal distension.
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