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(Laurence Moon Biedl syndrome)
622 results
  • Rarity of Laurence Moon Bardet Biedl Syndrome and its Poor Management in the Pakistani Population. [Case Reports]
    Cureus 2019; 11(2):e4114Khan OA, Majeed R, … Ghassan A
  • Laurence Moon Bardet Biedl syndrome is characterized as a rare genetic disorder, with a wide range of presenting symptoms such as mental retardation, decreased visual acuity, obesity, hypogonadism, and polydactyly. The diagnosis of this syndrome is easily overlooked due to its rarity, with a prevalence rate of one in 125,000-160,000 reported within Europe. Delayed diagnosis and inappropriate mana…
  • Pallister-Hall Syndrome. [Case Reports]
    J Pediatr Neurosci 2017 Jul-Sep; 12(3):276-279Chandra SR, Daryappa MM, … Arivazhagan A
  • Polydactyly is a relatively common abnormality in infants. However, it can be a marker of a wide variety of neurological and systemic abnormality. Hence, it is important for pediatrician and physician to have insight into the various association of this apparently innocuous anomaly. In this write-up, we report an extremely rare syndrome associated with polydactyly that is Pallister-Hall syndrome.…
  • GeneReviews®: PNPLA6-Related Disorders [BOOK]
    University of Washington, Seattle: Seattle (WA)Adam MP, Ardinger HH, … Amemiya ASynofzik M, Hufnagel RB, … Züchner SBOOK
  • PNPLA6-related disorders span a phenotypic continuum characterized by variable combinations of cerebellar ataxia, upper motor neuron involvement manifesting as spasticity and/or brisk reflexes, chorioretinal dystrophy associated with variable degrees of reduced visual function, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics), either in isolation or as…
  • Nystagmus in laurence-moon-biedl syndrome. [Journal Article]
    Case Rep Ophthalmol Med 2015; 2015:439409Janati AB, ALGhasab NS, … Osman A
  • CONCLUSIONS: The data support the previous hypothesis that there is a common brain stem motor abnormality in sensory-defect and motor-defect nystagmus.
  • Endotext: Atypical Forms of Diabetes [BOOK]
    MDText.com, Inc.: South Dartmouth (MA)Feingold KR, Anawalt B, … Wilson DPFeingold KRBOOK
  • While most patients with diabetes have Type 1 or Type 2 diabetes there are other etiologies of diabetes that occur less frequently. In this chapter we will discuss a number of these less-common causes of diabetes. It is clinically very important to recognize these uncommon causes of diabetes as treatment directed towards the underlying etiology can at times result in the remission of the diabetes…
  • Laurence Moon Bardet Biedl Syndrome with anaemia. [Case Reports]
    J Ayub Med Coll Abbottabad 2014 Oct-Dec; 26(4):625-7Asif M, Aziz T, … Sattar RA
  • Laurence Moon Bardet Biedl Syndrome is a rare genetic disorder. Consanguineous marriage is usually the common cause. Principal features of Bardet Biedl Syndrome are red cone dystrophy, obesity, polydactyl, hypogonadism and renal anomalies. The diagnosis was overlooked in our patient until he came in our hospital. We here report an infrequent case of autosomal recessive disorder with Anaemia.
  • Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes. [Journal Article]
    J Med Genet 2015; 52(2):85-94Hufnagel RB, Arno G, … Ahmed ZM
  • CONCLUSIONS: Previously, PNPLA6 mutations have been associated with spastic paraplegia type 39, Gordon-Holmes syndrome and Boucher-Neuhäuser syndromes. Discovery of these additional PNPLA6-opathies further elucidates a spectrum of neurodevelopmental and neurodegenerative disorders associated with NTE impairment and suggests a unifying mechanism with diagnostic and prognostic importance.
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